Le Pubblicazioni sul PXE – PXE Italia Odv

Lo Psedoxantoma elastico (PXE) è stato descritto per la prima volta nel 1881.

Da allora, nel corso degli anni, diversi Ricercatori in varie parti del mondo si sono interessati al PXE pubblicando i risultati delle loro ricerche su riviste internazionali.

Di seguito viene riportato, in ordine cronologico, un elenco dei principali lavori pubblicati sull’argomento con indicazione del nome degli Autori, il titolo dello studio e la rivista sulla quale è possibile trovare il lavoro per esteso (se liberamente accessibile online) o un breve riassunto.

2023

Almutairi R, Al-Sabah H. Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report. Cureus. 2023;15:e47041.
Borrego Garcia E, Peña Ortega M, Ramírez Gómez M, Ortega Del Olmo R, Navas-Parejo Casado A. Pseudoxanthoma elasticum and hereditary renal hypouricemia: Complication of systemic disorders or different entities? Presentation of a case. Nefrologia (Engl Ed). 2023;43 Suppl 2:110-111
Brunet-Garcia L, Prada Martínez FH, Sanchez-de-Toledo J, Carretero Bellón JM. Massive Dilatation of the Ascending Aorta in a Patient With Generalized Arterial Calcification of Infancy. World J Pediatr Congenit Heart Surg. 2023 ;14:93-95.
Burghaus-Zhang J, Schneiderbauer R, Toberer F. Pseudoxanthoma elasticum : Die Lotsenfunktion des Dermatologen. Dermatologie (Heidelb). 2023;74:190.
Calado R, Figueiredo C, Cardoso JC, Oliveira HS. Generalized Papular Granuloma Annulare Presenting With Pseudoxanthoma Elasticum-Like Lesions. Actas Dermosifiliogr. 2023;114:T839-T840.
Calado R, Figueiredo C, Cardoso JC, Oliveira HS. Generalized Papular Granuloma Annulare Presenting With Pseudoxanthoma Elasticum-Like Lesions. Actas Dermosifiliogr. 2023;114:839-840.
Fésűs L, Kiss N, Farkas K, Plázár D, Pálla S, Navasiolava N, Róbert L, Wikonkál NM, Martin L, Medvecz M. Correlation of systemic involvement and presence of pathological skin calcification assessed by ex vivo nonlinear microscopy in Pseudoxanthoma elasticum. Arch Dermatol Res. 2023;315:1897-1908.
Fujisaki T, Ishii M, Atari B, Matsumura T, Tsujita K. Pseudoxanthoma Elasticum With Detailed Analyses of Coronary Artery Disease. JACC Case Rep. 2023;16:101894.
Harmsen IM, Visseren FLJ, Kok M, de Jong PA, Spiering W. Plasma lipids in Pseudoxanthoma Elasticum (PXE) patients: A comparative study with population-based reference values and Non-PXE controls. Atheroscler Plus. 2023;55:5-11.
Hegde KR, Ray K, Szmacinski H, Sorto S, Puche AC, Lengyel I, Thompson RB. Two-Photon Excited Fluorescence Lifetime Imaging of Tetracycline-Labeled Retinal Calcification. Sensors (Basel). 2023;23:6626.
Hess K, Raming K, Charbel Issa P, Herrmann P, Holz FG, Pfau M. Inner retinal degeneration associated with optic nerve head drusen in pseudoxanthoma elasticum. Br J Ophthalmol. 2023;107:570-575.
Jacobs IJ, Li Q. Novel Treatments for PXE: Targeting the Systemic and Local Drivers of Ectopic Calcification. Int J Mol Sci. 2023;24:15041.
Jahr C, Vera V, Bustos R, Contreras J. Diagnosis of pseudoxanthoma elasticum in a patient with discrete skin lesions. An Bras Dermatol. 2023;98:542-544.
Kozák E, Bartstra JW, de Jong PA, Mali WPTM, Fülöp K, Tőkési N, Pomozi V, Risseeuw S, Norel JO, van Leeuwen R, Váradi A, Spiering W. Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype. J Clin Med. 2023;12:1047.
Kumar M, Saifudeen AR. Pseudoxanthoma Elasticum-like Syndrome. N Engl J Med. 2023;388:e26.
Lee KE, Thuma TBT, Salabati M, Sivalingam MD, Pulido JS, Gunton KB. Pseudoxanthoma elasticum-associated angioid streaks near a scleral buckle. Am J Ophthalmol Case Rep. 2023;34:101970.
Lindenkamp C, Plümers R, Osterhage MR, Vanakker OM, Van Wynsberghe J, Knabbe C, Hendig D. The Activation of JAK/STAT3 Signaling and the Complement System Modulate Inflammation in the Primary Human Dermal Fibroblasts of PXE Patients. Biomedicines. 2023;11:2673.
Loewinger AS, Pfau M, Herrmann P, Holz FG, Pfau K. Choriocapillaris Flow Signal Impairment in Patients With Pseudoxanthoma Elasticum. Invest Ophthalmol Vis Sci. 2023;64:21.
Miyazaki A, Takeichi T, Tanahashi K, Taki T, Taki Y, Muro Y, Akiyama M. Whole-exome sequencing reveals a retinitis pigmentosa-causative PRPH2 variant as a secondary finding in a patient with pseudoxanthoma elasticum. J Dermatol. 2023;50:e85-e86.
Morikane S, Ishida K, Taniguchi T, Ashizawa N, Matsubayashi M, Kurita N, Kobashi S, Iwanaga T. Identification of a DBA/2 Mouse Sub-strain as a Model for Pseudoxanthoma Elasticum-Like Tissue Calcification. Biol Pharm Bull.2023;46:1737-1744.
Murcia Casas B, Carrillo Linares JL, Baquero Aranda I, Rioja Villodres J, Merino Bohórquez V, González Jiménez A, Rico Corral MÁ, Bosch R, Sánchez Chaparro MÁ, García Fernández M, Valdivielso P. Lansoprazole Increases Inorganic Pyrophosphate in Patients with Pseudoxanthoma Elasticum: A Double-Blind, Randomized, Placebo-Controlled Crossover Trial. Int J Mol Sci. 2023;24:4899.
Nadelmann JB, Li Y, McGeehan B, Yu Y, VanderBeek BL. Systemic disease associations with angioid streaks in a large healthcare claims database. Eye (Lond). 2023;37:1596-1601.
Pizarro C, Stumpf MJ, Staberock L, Schaefer CA, Schahab N, Nickenig G, Skowasch D. Pseudoxanthoma elasticum is associated with cardiocirculatory inefficiency. Intractable Rare Dis Res. 2023;12:126-128.
Plázár D, Joura MI, Kiss N, Medvecz M. Dermoscopy of genodermatoses. Dermatologie (Heidelb). 2023;74:256-261. German.
Plázár D, Meznerics FA, Pálla S, Anker P, Farkas K, Bánvölgyi A, Kiss N, Medvecz M. Dermoscopic Patterns of Genodermatoses: A Comprehensive Analysis. Biomedicines. 2023;11:2717.
Plümers R, Lindenkamp C, Osterhage MR, Knabbe C, Hendig D. Matrix Metalloproteinases Contribute to the Calcification Phenotype in Pseudoxanthoma Elasticum. Biomolecules. 2023;13:672..
Ricciotti G, Amoroso F, Miere A, Souied EH. Multimodal Imaging of “Comet Lesions” in Pseudoxanthoma Elasticum With Retromode Scanning Laser Ophthalmoscopy. Retina. 2023;43:e60-e61.
Risseeuw S, Pilgrim MG, Bertazzo S, Brown CN, Csincsik L, Fearn S, Thompson RB, Bergen AA, Ten Brink JB, Kortvely E, Spiering W, Ossewaarde-van Norel J, van Leeuwen R, Lengyel I. Bruch’s Membrane Calcification in Pseudoxanthoma Elasticum: Comparing Histopathology and Clinical Imaging. Ophthalmol Sci. 2023;4:100416.
Robert M, Audebert S, Eveillard JR, Galacteros F, El Aridi L, Glen LF,Billon C, Misery L, Abasq-Thomas C. Acquired pseudoxanthoma elasticum-like syndrome and pyruvate kinase deficiency: a case of iron overload? Eur J Dermatol. 2023;33:319-320.
Rohart C, Le HM, Estrada-Walker J, Giocanti-Auregan A, Cohen SY. Long-term prognosis of choroidal neovascularization complicating angioid streaks. Retina. 2023;43:882-887.
Romeo M, Dallio M, Federico A. Is it time to reconsider the MRP6 role in bile secretion and LPAC genetic signature? J Hepatol. 2023;79:e152-e154.
Routsi E, Kanelleas A, Papaefthymiou V, Pappa G, Katoulis A. Penicillamine-Induced Localised Cutis Laxa in a Patient with Wilson Disease: A Case Report. Mediterr J Rheumatol. 2023;35:184-186.
Sacconi R, Tombolini B, Zucchiatti I, Servillo A, Menean M, Alessandrini GF, Querques L, Prascina F, Charbel Issa P, Bandello F, Querques G. Subclinical Angioid Streaks with Pseudodrusen: A New Phenotype of Age-Related Macular Degeneration. Ophthalmol Ther. 2023;12:2729-2743..
Sargent B, Birmingham SW, Skupsky H. Bilateral axillary plaques. J Cutan Pathol. 2023;50:617-618.
Sun Q, Qiao J. Sudden onset generalised yellowish papules. BMJ. 2023;383:e075323.
Tiemann J, Lindenkamp C, Wagner T, Brodehl A, Plümers R, Faust-Hinse I, Knabbe C, Hendig D. The Consideration of Pseudoxanthoma Elasticum as a Progeria Syndrome. Front Biosci (Landmark Ed). 2023;28:55.
Van Gils M, Depauw J, Coucke PJ, Aerts S, Verschuere S, Nollet L, Vanakker OM. Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype. J Clin Med. 2023;12:1893.
Verwer MC, Hazenberg CEVB, Spiering W, de Borst GJ. Peripheral Interventions in Patients with Pseudoxanthoma Elasticum (PXE). Eur J Vasc Endovasc Surg. 2023;65:142-148.
Wada S, Miyake M, Kido A, Kamei T, Hiragi S, Ikeda HO, Hata M, Ueshima H, Tsujikawa A, Tamura H. Epidemiology of Angioid Streaks and Pseudoxanthoma Elasticum (2011-2020): A Nationwide Population-based Cohort Study. Ophthalmol Sci. 2023 ;4:100370.
Weigelt MA, Franklin MJ, Mathur D, Billings SD, Ronen S. Pseudoxanthoma- elasticum-like changes on the soft palate. J Cutan Pathol. 2023;50:730-733.
Yao R, Yang F, Zhang Q, Yu T, Yu Y, Chang G, Wang X. Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare ABCC6 Mutation. J Pers Med. 2023;14:54.

2022

Bahena P, Daftarian N, Maroofian R, Linares P, Villalobos D, Mirrahimi M, Rad A, Doll J, Hofrichter MAH, Koparir A, Röder T, Han S, Sabbaghi H, Ahmadieh H, Behboudi H, Villanueva-Mendoza C, Cortés-Gonzalez V, Zamora-Ortiz R, Kohl S, Kuehlewein L, Darvish H, Alehabib E, Arenas-Sordo ML, Suri F, Vona B, Haaf T. Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment. Hum Genet. 2022;141:785-803.
Bailleux S, Collins P, Nikkels AF. The Relevance of Skin Biopsies in General Internal Medicine: Facts and Myths. Dermatol Ther (Heidelb). 2022;12:1103-1119.
Berkner KL, Runge KW. Vitamin K-Dependent Protein Activation: Normal Gamma-Glutamyl Carboxylation and Disruption in Disease. Int J Mol Sci. 2022;23:5759.
Bernhard E, Nitschke Y, Khursigara G, Sabbagh Y, Wang Y, Rutsch F. A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method. J Clin Endocrinol Metab. 2022;107:109-118.
Bhutani N, Kamlesh, Nadesan A. Pseudoxanthoma elasticum as a diagnostic challenge for pathologists: A rare case report. Ann Med Surg (Lond). 2022;77:103571.
Boneski PK, Madhu V, Tomlinson RE, Shapiro IM, van de Wetering K, Risbud MV. Abcc6Null Mice-a Model for Mineralization Disorder PXE Shows Vertebral Osteopenia Without Enhanced Intervertebral Disc Calcification With Aging. Front Cell Dev Biol. 2022;10:823249.
Bouderlique E, Nollet L, Letavernier E, Vanakker OM. Minocycline Counteracts Ectopic Calcification in a Murine Model of Pseudoxanthoma Elasticum: A Proof-of-Concept Study.Int J Mol Sci. 2022;23:1838.
Bouderlique E, Tang E, Zaworski J, Coudert A, Bazin D, Borondics F, Haymann JP, Leftheriotis G, Martin L, Daudon M, Letavernier E. Vitamin D and Calcium Supplementation Accelerate Vascular Calcification in a Model of Pseudoxanthoma Elasticum. Int J Mol Sci. 2022;23:2302.
Brokamp G, Mori M, Faith EF. Pseudoxanthoma Elasticum. JAMA Dermatol. 2022;158:100.
Brunet-Garcia L, Prada Martínez FH, Sanchez-de-Toledo J, Carretero Bellón JM. Massive Dilatation of the Ascending Aorta in a Patient With Generalized Arterial Calcification of Infancy. World J Pediatr Congenit Heart Surg. 2022:21501351221129188.
Burghaus J, Schneiderbauer R, Toberer F. Pseudoxanthoma elasticum: the dermatologist as a guide. Dermatologie (Heidelb). 2022;73:804-808.
Carande EJ, Roberts EF, Probert AM, Dicken B, Ionescu A. Pseudoxanthoma elasticum causing extensive myocardial calcification. Eur Heart J Case Rep. 2022;6:ytac141.
Cărăuș CV, Spînu AM, Negrii AA. Case report: Grönblad-Strandberg syndrome. Rom J Ophthalmol. 2022;66:158-163.
Charbel Issa P, Hess K. The complexity of visual dysfunction in patients with pseudoxanthoma elasticum. Eye (Lond). 2022;36:492-494.
Choe Y, Shin CH, Lee YA, Kim MJ, Lee YJ. Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Front Endocrinol (Lausanne). 2022;13:911672.
Das A, Nair SP, Kumar GN, Mathew R, Bindu RS, Mathew R, Gopinath DV. Pseudoxanthoma elasticum-like changes in longstanding gadolinium-naïve nephrogenic systemic fibrosis in a patient with chronic kidney disease. Indian J Dermatol Venereol Leprol. 2022;88:401-403.
Fantini F, Dainese E, Recalcati S. Late-onset focal dermal elastosis: Report of a case and review of the literature. Dermatol Reports. 2022;14:9337.
Fésűs L, Plázár D, Kolonics A, Martin L, Wikonkál N, Medvecz M, Szipőcs R. Low concentration Phloxine Bstaining for high chemical contrast, nonlinear microscope mosaic imaging of skin alterations in pseudoxanthoma elasticum. Biomed Opt Express. 2021;13:252-261.
Gaufin M, Cardis MA. Pseudoxanthoma Elasticum With Cutis Laxa-Like Features. JAMA Dermatol. 2022;158:99.
Golüke NMS, Schoffelmeer MA, De Jonghe A, Emmelot-Vonk MH, De Jong PA, Koek HL. Serum biomarkers for arterial calcification in humans: A systematic review. Bone Rep. 2022;17:101599.
Huang J, Ralph D, Boraldi F, Quaglino D, Uitto J, Li Q. Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum. J Invest Dermatol. 2022;142:2140-2148.e1.
Iwanaga A, Murota H. Author reply to comment on “Clinical practice guidelines for pseudoxanthoma elasticum (2017)”: The importance of mutation analysis. J Dermatol. 2022;49:e250.
Iwanaga A, Utani A, Koike Y, Okubo Y, Kuwatsuka Y, Endo Y, Tanizaki H, Wataya-Kaneda M, Hatamochi A, Minaga K, Ogi T, Yamamoto Y, Ikeda S, Tsuiki E, Tamura H, Maemura K, Kitaoka T, Murota H. Clinical practice guidelines for pseudoxanthoma elasticum (2017): Clinical Practice Guidelines for Pseudoxanthoma Elasticum Drafting Committee. J Dermatol. 2022;49:e91-e98.
Jacobs IJ, Cheng Z, Ralph D, O’Brien K, Flaman L, Howe J, Thompson D, Uitto J, Li Q, Sabbagh Y. INZ-701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6^-/-mouse model of pseudoxanthoma elasticum. Exp Dermatol. 2022;31:1095-1101.
Kauffenstein G, Chappard D, Leftheriotis G, Martin L. ABCC6 deficiency and bone loss: A double benefit of etidronate for patient presenting with pseudoxanthoma elasticum? Exp Dermatol. 2022;31:1635-1637.
Kowal L, Huang J, Luo H, Singh J, Snook AE, Uitto J, Li Q. Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder. J Invest Dermatol. 2022;142:1085-1093.
Kozák E, Fülöp K, Tőkési N, Rao N, Li Q, Terry SF, Uitto J, Zhang X, Becker C, Váradi A, Pomozi V. Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum. Exp Dermatol. 2022;31:548-555.
Kwok JM, VandenHoven C, Muni RH. Retinal crystalline lesions in pseudoxanthoma elasticum. Can J Ophthalmol. 2022;57(2):e39.
Kyo A, Yamamoto M, Honda S. A case of angioid streaks that produced choroidal neovascularization after the onset of unilateral acute retinopathy in pseudoxanthoma elasticum. Am J Ophthalmol Case Rep. 2022;27:101591.
Lattouf R, Assoumou-Abroh A, Younes R, Lutomski D, Bassil J, Blanchet-Bardon C, Naaman N, Changotade S, Godeau G, Senni K. Inherited connective tissue diseases highlight macromolecular network interdependences in skin extracellular matrix: a histomorphometric study. J Histotechnol. 2022;45:66-76.
Lechevalier D, Sigg N, Humeau H, Vermersch C, Leducq S, Maruani A, Martin L. Healthcare transition from childhood to adulthood in pseudoxanthoma elasticum: Patient experience and recommendations for health practitioners. Ann Dermatol Venereol. 2022;149:191-194.
Leftheriotis G, Navasiolava N, Clotaire L, Duranton C, Le Saux O, Bendahhou S, Laurain A, Rubera I, Martin L. Relationships between Plasma Pyrophosphate, Vascular Calcification and Clinical Severity in Patients Affected by Pseudoxanthoma Elasticum. J Clin Med. 2022;1:2588.
Li Q, Terry SF, Uitto J. Comment on “Clinical practice guidelines for pseudoxanthoma elasticum (2017)”: The importance of mutation analysis. J Dermatol. 2022;49:e248-e249.
Lima-Fontes M, Godinho G, Cunha AM, Madeira C, Falcão M, Falcão-Reis F, Carneiro Â. Hypotony Maculopathy Related to Anti-VEGF Intravitreal Injection. Int Med Case Rep J. 2022;15:517-520.
Lucci C, van den Beukel TC, Bartstra JW, Zwanenburg J, van der Kolk A, Takx R, Hendrikse J, Geerlings MI, Bos D, Spiering W, de Jong PA. Intracranial atherosclerosis in pseudoxanthoma elasticum: A case-control study. 2022;350:19-24.
Ly TD, Lindenkamp C, Kara E, Schmidt V, Kleine A, Fischer B, Hendig D, Knabbe C, Faust-Hinse I. The Impact of Inflammatory Stimuli on Xylosyltransferase-I Regulation in Primary Human Dermal Fibroblasts. 2022;10:1451.
Miyazaki A, Takeichi T, Tanahashi K, Taki T, Taki Y, Muro Y, Akiyama M. Whole-exome sequencing reveals a retinitis pigmentosa-causative PRPH2 variant as a secondary finding in a patient with pseudoxanthoma elasticum. J Dermatol. 2022 in press
Nadelmann JB, Li Y, McGeehan B, Yu Y, VanderBeek BL. Systemic disease associations with angioid streaks in a large healthcare claims database. Eye (Lond). 2022. In press
Nollet L, Campens L, De Zaeytijd J, Leroy B, Hemelsoet D, Coucke PJ, Vanakker OM. Clinical and subclinical findings in heterozygous ABCC6carriers: results from a Belgian cohort and clinical practice guidelines. J Med Genet. 2022;59(5):496-504.
Nollet L, Van Gils M, Fischer S, Campens L, Karthik S, Pasch A, De Zaeytijd J, Leroy BP, Devos D, De Backer T, Coucke PJ, Vanakker OM. Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum. J Clin Med. 2022;11:3727.
Nollet L, Van Gils M, Willaert A, Coucke PJ, Vanakker OM. Minocycline Attenuates Excessive DNA Damage Response and Reduces Ectopic Calcification in Pseudoxanthoma Elasticum. J Invest Dermatol. 2022;142:1629-1638.e6.
Ogawa R, Nishikawa J, Hamabe K, Goto A, Takami T. Dilatated submucosal vessels in the gastric fundus of a patient with pseudoxanthoma elasticum. Gastrointest Endosc. 2022;95:583-584.
Ono H, Oshita A, Inaba S, Kawamata M, Nakao Y, Uetani T, Muto J, Joko T, Kawakami H. Pseudoxanthoma elasticum resulting in acute coronary syndrome. J Cardiol Cases. 2022; 26: 308-310.
Pelttari S, Väärämäki S, Vanakker O, Verschuere S, Uusitalo H, Huhtala H, Hinkka T, Pörsti I, Nevalainen PI. Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study. Orphanet J Rare Dis. 2022;17:185.
Plümers R, Osterhage MR, Lindenkamp C, Knabbe C, Hendig D. Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis. Int J Mol Sci. 2022; 23:9218.
Ralph D, Levine MA, Richard G, Morrow MM, Flynn EK, Uitto J, Li Q. Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma. Hum Mutat. 2022;43:1183-1200.
Ralph D, Nitschke Y, Levine MA, Caffet M, Wurst T, Saeidian AH, Youssefian L, Vahidnezhad H, Terry SF, Rutsch F, Uitto J, Li Q. ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification. PLoS Genet. 2022;18:e1010192.
Ralph D, van de Wetering K, Uitto J, Li Q. Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification. Am J Pathol. 2022;192:762-770.
Reolid A, Martínez-Palazuelo M, Rodríguez-Jiménez P, Muñoz-Aceituno E, Llamas-Velasco M, Fraga J, Daudén E. Cutaneous vascular calcification. Perieccrine calcification as a diagnostic key for calciphylaxis. J Cutan Pathol. 2022;49:683-691.
Risseeuw S, Yildirim H, Spiering W, Imhof SM, van Leeuwen R, Ossewaarde-van Norel J. Is Vaginal Delivery Harmful To Patients With Pseudoxanthoma Elasticum? Retin Cases Brief Rep. 2022;16:422-425.
Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q. Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort. Genet Med. 2022;24:75-86.
Sehgal S, Fazal ZZ, Gupta L, Sheeran T. Progressive dermopathy akin to pseudoxanthoma elasticum after D-penicillamine use in a patient with cystinuria. Rheumatology (Oxford). 2022;6:e324.
Starr MR, Bakri SJ. Pigmentary Retinopathy and Chronic Subretinal Fluid Associated with Pseudoxanthoma Elasticum and Angioid Streaks. J Ophthalmic Vis Res. 2022;17:152-155.
Stumpf MJ, Schaefer CA, Mahn T, Wolf AE, Biener L, Hendig D, Nickenig G, Schahab N, Pizarro C, Skowasch D. Pulmonary affection of patients with Pseudoxanthoma elasticum: Long-term development and genotype-phenotype-correlation. Intractable Rare Dis Res. 2022;11:7-14.
Szeri F, Miko A, Navasiolava N, Kaposi A, Verschuere S, Molnar B, Li Q, Terry SF, Boraldi F, Uitto J, van de Wetering K, Martin L, Quaglino D, Vanakker OM, Tory K, Aranyi T. The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals. Hum Mutat. 2022 in press
Tiplica GS, Fritz K, Butacu AI, Ungureanu L, Sălăvăstru CM. Syndroms associated with benign skin tumors. 2022;73:114-126.
Tripathy K, Quint JM. Angioid Streaks. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022;PMID: 30844178, 2022.
Van Gils M, Willaert A, Coucke PJ, Vanakker OM. The Abcc6a Knockout Zebrafish Model as a Novel Tool for Drug Screening for Pseudoxanthoma Elasticum. Front Pharmacol. 2022;13:822143.
Verwer MC, Hazenberg CEVB, Spiering W, de Borst GJ. Peripheral Interventions in Patients with Pseudoxanthoma Elasticum (PXE). Eur J Vasc Endovasc Surg. 2022:S1078-5884(22)00512-3.
Witkowski C, Dhillon N, Dhillon B. Seeing through the cracks. J R Coll Physicians Edinb. 2022;52:128-131.
Zheng A, Thibodeau PH. Commentary on Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder. J Invest Dermatol. 2022;142:1002-1003.

2021

Abruzzese V, Matera I, Martinelli F, Carmosino M, Koshal P, Milella L, Bisaccia F, Ostuni A. Effect of Quercetin on ABCC6 Transporter: Implication in HepG2 Migration. Int J Mol Sci. 2021;22:3871.
Anderson D, Gustafson J, Tseng EE. Minimally invasive surgical aortic valve replacement in setting of pseudoxanthoma elasticum. JTCVS Tech. 2021;9:36-39.
Atzori L, Ferreli C, Pilloni L, Rongioletti F. Pseudoxanthoma elasticum-like papillary dermal elastolysis: A mimicker of genetic pseudoxanthoma elasticum. Clin Dermatol. 2021;39:206-210.
Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W. Genotype-phenotype correlation in pseudoxanthoma elasticum. 2021;324:18-26.
Bartstra JW, van Tuijl RJ, de Jong PA, Mali WPTM, van der Schaaf IC, Ruigrok YM, Rinkel GJE, Velthuis BK, Spiering W, Zwanenburg JJM. Pulsatility Attenuation along the Carotid Siphon in Pseudoxanthoma Elasticum. AJNR Am J Neuroradiol. 2021;42:2030-2033.
Bharti P, Mahajan S, Mahajan S, Ramam M, Gupta V. Yellowish periumbilical plaque with keratotic papules. Indian J Dermatol Venereol Leprol. 2021;87:235-236.
Bisaccia F, Koshal P, Abruzzese V, Castiglione Morelli MA, Ostuni A. Structural and Functional Characterization of the ABCC6 Transporter in Hepatic Cells: Role on PXE, Cancer Therapy and Drug Resistance. Int J Mol Sci. 2021;22:2858.
Boraldi F, Lofaro FD, Losi L, Quaglino D. Dermal Alterations in Clinically Unaffected Skin of Pseudoxanthoma elasticum J Clin Med. 2021;10:500.
Boraldi F, Murro V, Lofaro FD, Mucciolo DP, Costa S, Pavese L, Quaglino D. Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma ElasticumPatients and Update of the Ophthalmologic Evaluation Score. J Clin Med. 2021;10:2710.
Brampton C, Pomozi V, Chen LH, Apana A, McCurdy S, Zoll J, Boisvert WA, Lambert G, Henrion D, Blanchard S, Kuo S, Leftheriotis G, Martin L, Le Saux O. ABCC6 deficiency promotes dyslipidemia and atherosclerosis. Sci Rep. 2021;11:3881.
Bruno G, Ritelli M, Di Pietro A, Cipriano L, Colombi M, Lus G, Puoti G. Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke. J Stroke Cerebrovasc Dis. 2021;30:105744.
Castany-Aregall M, Aparicio G, Grau N, Carceller A, Pérez-Hoyos S, Català-Mora J, Anton A. Angioid streaks and obstructive sleep apnea syndrome: are they related? Sleep Breath. 2021;25:163-169.
Chauhan P, Sethi S, Jindal R. Dermoscopy of a Case of Pseudoxanthoma Elasticum: A Step Closer to Diagnosis. Indian J Dermatol. 2021;66:555-557.
Choudhary S, Srivastava A, Gupta S. Pseudoxanthoma elasticum and angioid streaks. 2021;114:274.
Colucciello M. Pneumatic compaction treatment of acute subfoveal hemorrhage after blunt trauma in a patient with angioid streaks associated with pseudoxanthoma elasticum. Retin Cases Brief Rep. 2021;15:344-347.
Cui C, Zhou Z, Zhang Y, Sun D. A case report: pseudoxanthoma elasticum diagnosed based on ocular angioid streaks and the curative effect of Conbercept treatment. BMC Ophthalmol. 2021;21:307.
Czimer D, Porok K, Csete D, Gyüre Z, Lavró V, Fülöp K, Chen Z, Gyergyák H, Tusnády GE, Burgess SM, Mócsai A, Váradi A, Varga M. A New Zebrafish Model for Pseudoxanthoma Elasticum. Front Cell Dev Biol. 2021;9:628699.
De Vilder EYG, Martin L, Lefthériotis G, Coucke P, Van Nieuwerburgh F, Vanakker OM. Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixture of Effects Analysis. Front Cell Dev Biol. 2021;9:612581.
Elmas ÖF, Demirbaş A, Kılıç R, Kilitçi A. The Role of Dermoscopy in Diagnosis: A Case Presentation of Pseudoxanthoma Elasticum Initially Misdiagnosed as Pigmented Contact Dermatitis. Dermatol Pract Concept. 2021;11:e2021064.
Esquivel-Pinto IA, Vega-Memije ME, Alvarado-Delgadillo A, Campuzano-Garcia AE, Manríquez-Robles A. Pseudoxanthoma Elasticum: Report of Two Cases. Case Rep Dermatol. 2021;13:230-237.
Farkas K, Bozsányi S, Plázár D, Bánvölgyi A, Fésűs L, Anker P, Zakariás S, Lihacova I, Lihachev A, Lange M, Arányi T, Wikonkál NM, Medvecz M, Kiss N. Autofluorescence Imaging of the Skin Is an Objective Non-Invasive Technique for Diagnosing Pseudoxanthoma Elasticum. Diagnostics (Basel). 2021;11:260.
Ferreira BFA, Preti RC, Schmidt MB, Zacharias LC, Takahashi WY, Monteiro MLR. Multimodal imaging of focal choroidal excavation complicated by choroidal neovascularization in a patient with angioid streaks and pseudoxanthoma elasticum. Retin Cases Brief Rep. 2021;15:155-162.
Ferreira CR, Hackbarth ME, Ziegler SG, Pan KS, Roberts MS, Rosing DR, Whelpley MS, Bryant JC, Macnamara EF, Wang S, Müller K, Hartley IR, Chew EY, Corden TE, Jacobsen CM, Holm IA, Rutsch F, Dikoglu E, Chen MY, Mughal MZ, Levine MA, Gafni RI, Gahl WA. Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). Genet Med. 2021;23:396-407.
Fésűs L, Plázár D, Kolonics A, Martin L, Wikonkál N, Medvecz M, Szipőcs R. Low concentration Phloxine Bstaining for high chemical contrast, nonlinear microscope mosaic imaging of skin alterations in pseudoxanthoma elasticum. Biomed Opt Express. 2021;13:252-261.
Frizzell MR, Saad SS, Fiala KH. An unusual presentation of eruptive syringomas on the neck. Proc (Bayl Univ Med Cent). 2021;34:412-413.
Gottardi R. Commentary: Pseudoxanthoma elasticum: An orphan disease with important implications for cardiothoracic surgeons. JTCVS Tech. 2021;9:40-41.
Guillen-Climent S, García-Vázquez A, Silva E, Estebanez A, Cuesta Peredo A, Rengel Ruiz MD, Monteagudo C, Ramón Quiles MD. Pseudoxanthoma elasticum-like syndrome with coagulation deficiency associated with carotid artery hypoplasia and a novel gamma-glutamyl carboxylase gene mutation. Int J Dermatol. 2021;60:e13-e15.
Hess K, Raming K, Charbel Issa P, Herrmann P, Holz FG, Pfau M. Inner retinal degeneration associated with optic nerve head drusen in pseudoxanthoma elasticum. Br J Ophthalmol. 2021: bjophthalmol-2021-320088.
Heusinkveld LE, Michalik D, Lucas J. Penicillamine-induced elastosis perforans serpiginosa and pseudo-pseudoxanthoma elasticum. Int J Womens Dermatol. 2021;7(5Part B):822-823.
Ibold B, Tiemann J, Faust I, Ceglarek U, Dittrich J, Gorgels TGMF, Bergen AAB, Vanakker O, Van Gils M, Knabbe C, Hendig D. Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice. Sci Rep. 2021;11:2137.
Jacobs IJ, Li D, Ivarsson ME, Uitto J, Li Q. A phytic acid analogue INS-3001 prevents ectopic calcification in an Abcc6^-/-mouse model of pseudoxanthoma elasticum. Exp Dermatol. 2021;30:853-858.
Jaminon AMG, Akbulut AC, Rapp N, Kramann R, Biessen EAL, Temmerman L, Mees B, Brandenburg V, Dzhanaev R, Jahnen-Dechent W, Floege J, Uitto J, Reutelingsperger CP, Schurgers LJ. Development of the BioHybrid Assay: Combining Primary Human Vascular Smooth Muscle Cells and Blood to Measure Vascular Calcification Propensity. 2021;10:2097.
Jin KW, Joo K, Woo SJ. Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks. Genes (Basel). 2021;12:1207.
Khan S, Akter S, Goswami B, Habib A, Banu TA, Barton C, Osman E, Samir S, Arjuman F, Hasan S, Hossain M. Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance. BMC Res Notes. 2021;14:105.
Kim J, Dalziel D. Pseudoxanthoma elasticum: successful long-term management of choroidal neovascularization secondary to angioid streaks with pro re nata intravitreal bevacizumab injections. Retin Cases Brief Rep. 2021;15:246-250.
Kowal L, Huang J, Luo H, Singh J, Snook AE, Uitto J, Li Q. Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder. J Invest Dermatol. 2022;142:1085-1093.
Kozák E, Szikora B, Iliás A, Jani PK, Hegyi Z, Matula Z, Dedinszki D, Tőkési N, Fülöp K, Pomozi V, Várady G, Bakos É, Tusnády GE, Kacskovics I, Váradi A. Creation of the first monoclonal antibody recognizing an extracellular epitope of hABCC6. FEBS Lett. 2021;595:789-798.
Lanfranconi S, Ghione I, Valcamonica G, Corti SP, Bonato S, Bresolin N. Safety and efficacy of rt-PA treatment for acute stroke in pseudoxanthoma elasticum: the first report. J Thromb Thrombolysis. 2021;51:176-179.
Lee R, Lebwohl M. Comprehensive Literature Review of Obstetric Outcomes and Fetal Risk during Pregnancy with Pseudoxanthoma Elasticum. J Clin Med. 2021;10:2532.
Legrand A, Pujol C, Durand CM, Mesnil A, Rubera I, Duranton C, Zuily S, Sousa AB, Renaud M, Boucher JL, Pietrancosta N, Adham S, Orssaud C, Marelli C, Casali C, Ziccardi L, Villain N, Ewenczyk C, Durr A, Mignot C, Stevanin G, Billon C, Hureaux M, Jeunemaitre X, Goizet C, Albuisson J. Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56. J Intern Med. 2021;289:709-725.
Li D, Ryu E, Saeidian AH, Youssefian L, Oliphant E, Terry SF, Tong PL, Uitto J, Haass NK, Li Q. GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype. Br J Dermatol. 2021;184:1170-1174.
Lillo E, Gutierrez-Cardo A, Murcia-Casas B, Carrillo-Linares JL, Garcia-Argüello F, Chicharo de Freitas R, Baquero-Aranda I, Valdivielso P, García-Fernández M, Sánchez-Chaparro MÁ. Cutaneous and Vascular Deposits of 18F-NaF by PET/CT in the Follow-Up of Patients with Pseudoxanthoma Elasticum. J Clin Med. 2021;10:2588.
Lofaro FD, Mucciolo DP, Murro V, Pavese L, Quaglino D, Boraldi F. A Case Report of Pseudoxanthoma Elasticumwith Rare Sequence Variants in Genes Related to Inherited Retinal Diseases. Diagnostics (Basel). 2021;11:1800.
Lofaro FD, Mucciolo DP, Murro V, Pavese L, Quaglino D, Boraldi F. From Clinical Diagnosis to the Discovery of Multigene Rare Sequence Variants in Pseudoxanthoma elasticum: A Case Report. Front Med (Lausanne). 2021;8:726856.
Luo H, Faghankhani M, Cao Y, Uitto J, Li Q. Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder. J Invest Dermatol. 2021;141:1148-1156.
Mandura RA, Radi RE. Angioid Streaks in Pseudoxanthoma Elasticum. 2021;13(6):e15720.
Maronese CA, Spigariolo CB, Boggio FL, Moltrasio C, Brena M, Zelin E, Genovese G, Marzano AV, Nazzaro G. Clinical, genetic, and ultrasonographic features of Periumbilical Perforating Pseudoxanthoma Elasticum. Skin Res Technol. 2021;27:646-647.
Marques JP, Bernardes J, Geada S, Soares M, Teixeira D, Farinha C, Pires I, Cachulo ML, Silva R. Non-exudative macular neovascularization in pseudoxanthoma elasticum. Graefes Arch Clin Exp Ophthalmol. 2021;259:873-882.
Morningstar JE, Nieman A, Wang C, Beck T, Harvey A, Norris RA. Mitral Valve Prolapse and Its Motley Crew-Syndromic Prevalence, Pathophysiology, and Progression of a Common Heart Condition. J Am Heart Assoc. 2021;10:e020919.
Moshirfar M, Barke MR, Huynh R, Waite AJ, Ply B, Ronquillo YC, Hoopes PC. Controversy and Consideration of Refractive Surgery in Patients with Heritable Disorders of Connective Tissue. J Clin Med. 2021;10:3769.
Murro V, Mucciolo DP, Giorgio D, Pavese L, Boraldi F, Quaglino D, Finocchio L, Sodi A, Virgili G, Giansanti F. Adaptive Optics Imaging in Patients Affected by Pseudoxanthoma Elasticum. Am J Ophthalmol. 2021;224:84-95.
Nollet L, Campens L, De Zaeytijd J, Leroy B, Hemelsoet D, Coucke PJ, Vanakker OM. Clinical and subclinical findings in heterozygous ABCC6carriers: results from a Belgian cohort and clinical practice guidelines. J Med Genet. 2022;59:496-504.
Okamura H. Commentary: Navigating the pitfalls in the surgical management of pseudoxanthoma elasticum. JTCVS Tech. 2021;9:42-43.
Osti MH, Scardamaglia L. Treatment of pseudoxanthoma elasticum with probenecid. Australas J Dermatol. 2021;62:440-441.
Parashar A, Gourgas O, Lau K, Li J, Muiznieks L, Sharpe S, Davis E, Cerruti M, Murshed M. Elastin calcification in in vitro models and its prevention by MGP’s N-terminal peptide. J Struct Biol. 2021;213:107637.
Ruffell D. Bridging the gap between scientists and citizens: basic research can be accessible for all: An interview with Sharon F. Terry. FEBS Lett. 2021;595:437-441.
Shimada BK, Pomozi V, Zoll J, Kuo S, Martin L, Le Saux O. ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions. Int J Mol Sci. 2021;22:4555.
Steyaert W, Verschuere S, Coucke PJ, Vanakker OM. Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model. J Genet Genomics. 2021;48:289-299.
Stumpf MJ, Schahab N, Nickenig G, Skowasch D, Schaefer CA. Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives. 2021;9:1895.
Su YC, Wu CL, Huang MS, Hung JH. Pseudoxanthoma elasticum with null cell adenoma of the pituitary gland: A case report with multimodal imaging study. Kaohsiung J Med Sci. 2021;37:828-830.
Sunmonu NA. Multiple Cerebrovascular Insults in Pseudoxanthoma Elasticum. J Stroke Cerebrovasc Dis. 2021;30:105524.
Szeri F, Corradi V, Niaziorimi F, Donnelly S, Conseil G, Cole SPC, Tieleman DP, van de Wetering K. Mutagenic Analysis of the Putative ABCC6 Substrate-Binding Cavity Using a New Homology Model. Int J Mol Sci. 2021;22:6910.
Szeri F, Niaziorimi F, Donnelly S, Orndorff J, van de Wetering K. Generation of fully functional fluorescent fusion proteins to gain insights into ABCC6 biology. FEBS Lett. 2021;595:799-810.
Teixeira LR, Chahud F, Simão JCL, Souza CS, Motta ACF. Cutaneous and oral manifestations of pseudoxanthoma elasticum: clinicopathological features of an uncommon disorder. Clin Exp Dermatol. 2021;46:745-748.
Tiemann J, Lindenkamp C, Plümers R, Faust I, Knabbe C, Hendig D. Statins as a Therapeutic Approach for the Treatment of Pseudoxanthoma Elasticum Patients: Evaluation of the Spectrum Efficacy of Atorvastatin In Vitro. 2021;10:442.
Vardarli MC, Ziemssen F, Berret KR. Choroidal Neovascularization by Pseudoxanthoma Elasticum with Vision Loss. Klin Monbl Augenheilkd. 2021;238:727-730.
Verschuere S, Navassiolava N, Martin L, Nevalainen PI, Coucke PJ, Vanakker OM. Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc. Genet Med. 2021;23:131-139.
Wüllems K, Zurowietz A, Zurowietz M, Schneider R, Bednarz H, Niehaus K, Nattkemper TW. Fast visual exploration of mass spectrometry images with interactive dynamic spectral similarity pseudocoloring. Sci Rep. 2021;11:4606.
Yamazaki Y, Iwanaga A, Koike Y, Sato T, Murota H, Takeuchi M, Satoh T. A possible case of pseudoxanthoma elasticum (PXE) with histopathological features of PXE-like papillary dermal elastolysis. J Dermatol. 2021;48:e265-e266.
Yenior AL, Pujalte G, Nadwodny J, Costa LC, Presutti RJ. Connecting the Dots of a Rare Connective Tissue Disease: Pseudoxanthoma Elasticum. 2021;13:e18481

2020

Artus A, Codron P, Iscar C, Bryselbout S, Chergui I. CRAO as presenting sign of pseudoxanthoma elasticum. J Fr Ophtalmol. 2020;43:951-953.
Asad U, Shah S, Parekh P. Leg ulceration with histological features of pseudoxanthoma elasticum. Proc (Bayl Univ Med Cent). 2020;34:87-88.
Bahrani E, Perkins IU, North JP. Diagnosing Calciphylaxis: A Review With Emphasis on Histopathology. Am J Dermatopathol. 2020;42:471-480.
Bartstra JW, de Jong PA, Kranenburg G, Wolterink JM, Isgum I, Wijsman A, Wolf B, den Harder AM, Mali WPTM, Spiering W. Etidronate halts systemic arterial calcification in pseudoxanthoma elasticum. 2020;292:37-41.
Bartstra JW, Spiering W, van den Ouweland JMW, Mali WPTM, Janssen R, de Jong PA. Increased Elastin Degradation in Pseudoxanthoma Elasticum Is Associated with Peripheral Arterial Disease Independent of Calcification. J Clin Med. 2020;9:2771.
Bathina M, Hegde SP, Shanavaz AA, Saldanha PP. Pruritic Periumbilical Plaque as a Presentation of a Rare Perforating Dermatosis. Indian Dermatol Online J. 2020;11:68-71.
Boraldi F, Lofaro FD, Costa S, Moscarelli P, Quaglino D. Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings. Front Med (Lausanne). 2020;6:322.
Bou-Boluda L, Sabater-Abad J, Millán-Parrilla F. Goosebumps and angioid streaks in a patient with cerebrovascular disease. Eur J Intern Med. 2020;78:131-132.
Boyce AM, Gafni RI, Ferreira CR. Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management. Curr Osteoporos Rep. 2020;18:232-241.
Calvão J, Ferreira BR, Cardoso JC. Multiple whitish papules on the posterior neck of an elderly woman. An Bras Dermatol. 2020;95:102-104.
Charbel Issa P, Tysoe C, Caswell R. Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant. Am J Ophthalmol. 2020;218:255-260.
Chebil A, Saidane R, Falfoul Y, El Matri K, Choura R, El Matri L. Polypoidal choroidal vasculopathy in a patient with angioid streaks treated by bevacizumab. Tunis Med. 2020;98:754-761.
Chen EL, Altman I, Braniecki M. A Helpful Clue to Calciphylaxis: Subcutaneous Pseudoxanthoma Elasticum-like Changes. Am J Dermatopathol. 2020;42:521-523.
Chiu BQ, Tsui E, Hussnain SA, Barbazetto IA, Smith RT. Multimodal imaging of angioid streaks associated with turner syndrome. Retin Cases Brief Rep. 2020;14:364-367.
D’Marco L, Lima-Martínez M, Karohl C, Chacín M, Bermúdez V. Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease. Kidney Dis (Basel). 2020;6:92-97.
De Vilder EYG, Hosen MJ, Martin L, De Zaeytijd J, Leroy BP, Ebran JM, Coucke PJ, De Paepe A, Vanakker OM. VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum. Clin Genet. 2020;98:74-79.
Dokic Y, Tschen J. White Fibrous Papulosis of the Axillae and Neck. 2020;12:e7635.
Duschner N, Hess K, Hendricks C, Schaller J. Brownish and Indurated Plaques With Yellowish Papules: Answer. Am J Dermatopathol. 2020;42:379-380.
Gielis WP, de Jong PA, Bartstra JW, Foppen W, Spiering W, den Harder AM. Osteoarthritis in Pseudoxanthoma Elasticum Patients: An Explorative Imaging Study. J Clin Med. 2020;9:3898.
Gillgren P, Malmstedt J. Pseudoxanthoma Elasticum and Isolated Iliac Artery Occlusion. Eur J Vasc Endovasc Surg. 2020;60:409.
Gliem M, Birtel J, Herrmann P, Fimmers R, Berger M, Coch C, Wingen A, Holz FG, Charbel Issa P. Aflibercept for choroidal neovascularizations secondary to pseudoxanthoma elasticum: a prospective study. Graefes Arch Clin Exp Ophthalmol. 2020;258:311-318.
Gliem M, Wieg I, Birtel J, Müller PL, Faust I, Hendig D, Holz FG, Finger RP, Charbel Issa P. Retinal findings in carriers of monoallelic ABCC6 Br J Ophthalmol. 2020;104:1089-1092.
Gutierrez-Cardo A, Lillo E, Murcia-Casas B, Carrillo-Linares JL, García-Argüello F, Sánchez-Sánchez P, Rodriguez-Morata A, Aranda IB, Sánchez-Chaparro MÁ, García-Fernández M, Valdivielso P. Skin and Arterial Wall Deposits of 18F-NaF and Severity of Disease in Patients with Pseudoxanthoma Elasticum. J Clin Med. 2020;9:1393.
Haber R, Salloum A, El Gemayel M.Visual Dermatology: Cobblestone Skin, Angioid Streaks, and Gastrointestinal Hemorrhage. J Cutan Med Surg. 2020;24:304.
Hernández Bel L, Esteve Martínez A, Rodríguez López R, Monferrer Adsuara C, Hernández Garfella ML, Cervera Taulet E. Pseudoxanthoma elasticum in childhood in patient with β-thalassaemia. Arch Soc Esp Oftalmol (Engl Ed). 2020;95:555-558.
Hess K, Gliem M, Birtel J, Müller P, Hendig D, Andrews C, Murray IJ, Holz FG, Charbel Issa P. Impaired dark adaptation associated with a diseased bruch membrane in pseudoxanthoma elasticum. 2020;40:1988-1995.
Hess K, Gliem M, Charbel Issa P, Birtel J, Müller PL, von der Emde L, Herrmann P, Holz FG, Pfau M. Mesopic and Scotopic Light Sensitivity and Its Microstructural Correlates in Pseudoxanthoma Elasticum. JAMA Ophthalmol. 2020;138:1272-1279.
Hidalgo-Díaz T, Morillo-Sánchez MJ, Kamal-Salah R, Rius-Díaz F, García-Fernandez M, García-Campos JM. Macular choroidal thickness in patients with pseudoxanthoma elasticum measured by enhanced-depth imaging spectral-domain optical coherence tomography. Int Ophthalmol. 2020;40:1749-1758.
Hilal M, Berthin C, Martin L, Azami H, Humeau-Heurtier A. Bidimensional Multiscale Fuzzy Entropy and Its Application to Pseudoxanthoma Elasticum. IEEE Trans Biomed Eng. 2020;67:2015-2022.
Jacquin-Porretaz C, Aubin F, Vibratte F, Valmary S, Petitjean A, Algros MP, Puzenat E. Pseudoxanthoma elasticum-like papillary dermal elastolysis: A case report. Ann Dermatol Venereol. 2020;147:194-197.
Katiyar D, Davies P, Goel H. Pseudoxanthoma elasticum and retinitis pigmentosa: dual diagnosis of recessive conditions with ophthalmological consequences. Ophthalmic Genet. 2020;41:470-473.
Keuth J, Nitschke Y, Mulac D, Riehemann K, Rutsch F, Langer K. Reversion of arterial calcification by elastin-targeted DTPA-HSA nanoparticles. Eur J Pharm Biopharm. 2020;150:108-119.
Kiss N, Fésűs L, Bozsányi S, Szeri F, Van Gils M, Szabó V, Nagy AI, Hidvégi B, Szipőcs R, Martin L, Vanakker O, Arányi T, Merkely B, Wikonkál NM, Medvecz M. Nonlinear optical microscopy is a novel tool for the analysis of cutaneous alterations in pseudoxanthoma elasticum. Lasers Med Sci. 2020;35:1821-1830.
Knapp M, Carpenter CE, Shea K, Stowman A, Pierson JC. Focal Dermal Elastosis: A Proposed Update to the Nomenclature. Am J Dermatopathol. 2020;42: 774-775.
Li Y, Li Y. Research advance in Randall plaque of kindey stone. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2020;45:435-439.
Lofaro FD, Boraldi F, Garcia-Fernandez M, Estrella L, Valdivielso P, Quaglino D. Relationship Between Mitochondrial Structure and Bioenergetics in Pseudoxanthoma elasticumDermal Fibroblasts. Front Cell Dev Biol. 2020;8:610266.
Lucas C, Aranha J, da Rocha I, Sousa D. Case Report: Pseudoxanthoma elasticum. 2020;9:9.
Luo H, Li Q, Cao Y, Uitto J. Therapeutics Development for Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders: Update 2020. J Clin Med. 2020;10:114.
Mehrabi JN, Doong J, Lentsch G, Mesinkovska N. Imaging of in vivo pseudoxanthoma elasticum via multiphoton microscopy and optical coherence tomography. JAAD Case Rep. 2020;6:702-704.
Mercuri SR, Cestone E, Bearzi P, Rizzo N, Paolino G. Dermoscopical and pathological findings in pseudoxanthoma elasticum-like papillary dermal elastolysis. G Ital Dermatol Venereol. 2020;155:692-693.
Miraglia E, Calvieri S, Giustini S. Pseudoxanthoma elasticum in Italy: epidemiological and clinical aspects. G Ital Dermatol Venereol. 2020;155:524-526.
Misra S, Saran RK. Atypical Presentation of Pseudoxanthoma Elasticum in Two Siblings from North India. Acta Medica (Hradec Kralove). 2020;63:198-201.
Mititelu R, Cheung LW, Sasseville D. Cutaneous polyarteritis nodosa and concurrent pseudoxanthoma elasticum-like phenotype: A case report. SAGE Open Med Case Rep. 2020;8:2050313X20953110.
Montani D, Jaïs X, Humbert M, Sitbon O. Pulmonary Hypertension Complicating Pulmonary Artery Involvement in Pseudoxanthoma Elasticum. Am J Respir Crit Care Med. 2020;202:e90-e91.
Murro V, Mucciolo DP, Giorgio D, Sodi A, Boraldi F, Quaglino D, Virgili G, Giansanti F. Pattern dystrophy-like changes and coquille d’oeuf atrophy in elderly patients affected by pseudoxanthoma elasticum. Graefes Arch Clin Exp Ophthalmol. 2020;258:1881-1892.
Naima J, Abir RA, Hosen MJ. Homology Modeling and Virtual Screening of Proteins Related to PXE and PXE-like Diseases: Insights for Overlapping Metabolites. Curr Pharm Biotechnol. 2020;21:1470-1478.
Omarjee L, Mention PJ, Janin A, Kauffenstein G, Pabic EL, Meilhac O, Blanchard S, Navasiolava N, Leftheriotis G, Couturier O, Jeannin P, Lacoeuille F, Martin L. Assessment of Inflammation and Calcification in Pseudoxanthoma Elasticum Arteries and Skin with 18F-FluroDeoxyGlucose and 18F-Sodium Fluoride Positron Emission Tomography/Computed Tomography Imaging: The GOCAPXE Trial. J Clin Med. 2020;9:3448.
Omarjee L, Nitschke Y, Verschuere S, Bourrat E, Vignon MD, Navasiolava N, Leftheriotis G, Kauffenstein G, Rutsch F, Vanakker OM, Martin L. Severe early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate. Br J Dermatol. 2020;183:367-372.
Qian SS, Kesar V, Shah F, Park D, Sorrentino D. Pseudoxanthoma Elasticum. ACG Case Rep J. 2020;7:e00410.
Ralph D, Allawh R, Terry IF, Terry SF, Uitto J, Li Q. Kidney Stones are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder. Int J Dermatol Venereol. 2020;3:198-204.
Risseeuw S, Bartstra J, Ossewaarde-van Norel J, Geurts LJ, Li CHZ, Imhof SM, Spiering W, de Jong PA, van Leeuwen R. Is arterial stiffness in the carotid artery associated with choroidal thinning in patients with pseudoxanthoma elasticum or controls? Acta Ophthalmol. 2020; 98:492-499.
Risseeuw S, Bennink E, Poirot MG, de Jong PA, Spiering W, Imhof SM, van Leeuwen R, Ossewaarde-van Norel J. A Reflectivity Measure to Quantify Bruch’s Membrane Calcification in Patients with Pseudoxanthoma Elasticum Using Optical Coherence Tomography. Transl Vis Sci Technol. 2020;9:34.
Risseeuw S, Ossewaarde-van Norel J, van Buchem C, Spiering W, Imhof SM, van Leeuwen R. The Extent of Angioid Streaks Correlates With Macular Degeneration in Pseudoxanthoma Elasticum. Am J Ophthalmol. 2020;220:82-90.
Risseeuw S, van Leeuwen R, Imhof SM, de Jong PA, Mali WPTM, Spiering W, Ossewaarde-van Norel J. The effect of etidronate on choroidal neovascular activity in patients with pseudoxanthoma elasticum. PLoS One. 2020;15:e0240970.
Scotti A, Massussi M, Baritussio A, Pergola V. Pseudoxanthoma elasticum and caseous mitral annular calcification: rare association or coincidence? Eur Heart J. 2020;41:2817.
Setó-Torrent N, Iglesias-Sancho M, Arandes-Marcocci J, Fernández-Figueras MT. Pseudoxanthoma elasticum-like papillary dermal elastolysis in non-exposed skin. An Bras Dermatol. 2020;95:247-249.
Spaide RF, Ledesma-Gil G. Novel method for image averaging of optical coherence tomography angiography images. 2020;40:2099-2105.
Stembridge N, Rytina E, Holden S, Burrows NP. Pseudoxanthoma elasticum presenting without typical skin changes. Clin Exp Dermatol. 2020;45:518-520.
Stumpf MJ, Mahn T, Steinmetz M, Fimmers R, Pizarro C, Nickenig G, Skowasch D, Schahab N, Schaefer CA. Pseudoxanthoma elasticum – also a microvascular disease. 2020;49:57-62.
Stumpf MJ, Schaefer CA, Schahab N. From osteoporosis to pseudoxanthoma elasticum – etidronate in a vascular disease. 2020;49:520.
Sun J, She P, Liu X, Gao B, Jin D, Zhong TP. Disruption of Abcc6 Transporter in Zebrafish Causes Ocular Calcification and Cardiac Fibrosis. Int J Mol Sci. 2020;22:278.
Takkar B, Rathi A, Venkatesh P, Kumar A. Giant Idiopathic Angioid Streaks. J Ophthalmic Vis Res. 2020;15:240-245.
Terry SF, Uitto J. Pseudoxanthoma Elasticum. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^®[Internet]. Seattle (WA): University of Washington, Seattle. 2020
Terry SF. The Human Face of ABCC6. FEBS Lett. 2020;594:4151-4157.
Tiemann J, Wagner T, Lindenkamp C, Plümers R, Faust I, Knabbe C, Hendig D. Linking ABCC6 Deficiency in Primary Human Dermal Fibroblasts of PXE Patients to p21-Mediated Premature Cellular Senescence and the Development of a Proinflammatory Secretory Phenotype. Int J Mol Sci. 2020;21:9665.
Tiemann J, Wagner T, Vanakker OM, van Gils M, Cabrera JB, Ibold B, Faust I, Knabbe C, Hendig D. Cellular and Molecular Biomarkers Indicate Premature Aging in Pseudoxanthoma Elasticum Patients. Aging Dis. 2020;11:536-546.
Val-Bernal JF, Mayorga MM, García-Gutierrez FJ. Abdominal elastotic lesions. A clinicopathologic study of 23 cases. Rom J Morphol Embryol. 2020;61:841-851.
Valenzuela-Ubiña S, Jiménez-Gallo D, Russo-de la Torre F, Linares-Barrios M. Elastosis perforans serpiginosa induced by d-penicillamine treated with cyclosporine and allopurinol. Dermatol Ther. 2020;33:e13692.
Veiga-Lopez A, Sethuraman V, Navasiolava N, Makela B, Olomu I, Long R, van de Wetering K, Martin L, Aranyi T, Szeri F. Plasma Inorganic Pyrophosphate Deficiency Links Multiparity to Cardiovascular Disease Risk. Front Cell Dev Biol. 2020;8:573727.
Verschuere S, Van Gils M, Nollet L, Vanakker OM. From membrane to mineralization: the curious case of the ABCC6 transporter. FEBS Lett. 2020;594:4109-4133.
Vetsiou E, Mpouras V, Nikolaidou C, Klonizakis P, Mandala E, Vamvakis K, Psarras K, Vlachaki E. Necrobiosis Lipoidica in a Patient with β-Thalassemia Major: A Case Report and Review of the Literature. 2020;44:221-223.
Vishwanath T, Binny B, Gala P, Nagpal A, Ghate S, Shinde G, Ingle K. Two cases of periumbilical perforating pseudoxanthoma elasticum with dermoscopic and histopathologic features. Australas J Dermatol. 2020;61:e217-e220.
Wang K, Statler B, Ramos M, DeBenedictis MJ, Babiuch A, Yuan A, Traboulsi EI. Hickam’s Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient. Ophthalmic Genet. 2020;41:465-469.
Whyte MP, Amalnath SD, McAlister WH, McKee MD, Veis DJ, Huskey M, Duan S, Bijanki VN, Alur S, Mumm S. Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy? 2020;132:115190.
Whyte MP, Zhang F, Wenkert D, Mumm S, Berndt TJ, Kumar R. Hyperphosphatemia with low FGF7 and normal FGF23 and sFRP4 levels in the circulation characterizes pediatric hypophosphatasia. 2020;134:115300.
Xiao Q, Zhou Y, Lauschke VM. Ethnogeographic and inter-individual variability of human ABC transporters. Hum Genet. 2020;139:623-646.
Ying Z, Lin F, Maoyuan W, Wang L. Perforating pseudoxanthoma elasticum of the arms: a rare case report. Eur J Dermatol. 2020;30:731-732.
Yu Z, Sheu Song J, Schmidt B, Corey K, Hawryluk EB. Pediatric Pseudo-pseudoxanthoma Elasticum Resulting From D-Penicillamine Treatment for Wilson Disease. J Pediatr Gastroenterol Nutr. 2020;71:731-733.
Zhao JY, Kingman J, Jacobs IJ, Uitto J, Cao Y, Li QL. Atherogenic Diet Accelerates Ectopic Mineralization in a Mouse Model of Pseudoxanthoma Elasticum. Int J Dermatol Venereol. 2020;3:91-96.
Ziegler SG, Gahl WA, Ferreira CR. Generalized Arterial Calcification of Infancy. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^®[Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022, 2020.

2019

Abdel-Halim MRE, El-Nabarawy E, El-Tawdy A, Fawzy MM, Shalaby S, Ismail S, Amer M. Leonine facies and neck papules. Int J Dermatol. 2019;58:797-799.
Aljoudi SB, Abduljabbar MH, Hariri JO. A Case Series of Pseudoxanthoma Elasticum-like Disorders. Indian J Dermatol. 2019;64:482-485.
Andrés-Ramos I, Alegría-Landa V, Gimeno I, Pérez-Plaza A, Rütten A, Kutzner H, Requena L. Cutaneous Elastic Tissue Anomalies. Am J Dermatopathol. 2019;41:85-117.
Bartstra JW, de Jong PA, Spiering W. Accelerated peripheral vascular aging in pseudoxanthoma elasticum – proof of concept for arterial calcification-induced cardiovascular disease. Aging (Albany NY). 2019;11:1062-1064.
Battaglia Parodi M, Romano F, Marchese A, Arrigo A, Llorenç V, Cicinelli MV, Bandello F, Adán A. Anti-VEGF treatment for choroidal neovascularization complicating pattern dystrophy-like deposit associated with pseudoxanthoma elasticum. Graefes Arch Clin Exp Ophthalmol. 2019;257:273-278.
Berthin C, Phan A, Navasiolava N, Michalak S, Humeau H, Grimaux X, Martin L. Dermoscopic phenotype of pseudoxanthoma elasticum skin lesions: a study of 16 patients. J Eur Acad Dermatol Venereol. 2019;33:e262-e265.
Birtel J, Lindner M, Mishra DK, Müller PL, Hendig D, Herrmann P, Holz FG, Fleckenstein M, Gliem M, Charbel Issa P. Retinal imaging including optical coherence tomography angiography for detecting active choroidal neovascularization in pseudoxanthoma elasticum. Clin Exp Ophthalmol. 2019;47:240-249.
Borst P, Váradi A, van de Wetering K. PXE, a Mysterious Inborn Error Clarified. Trends Biochem Sci. 2019;44:125-140.
Bouderlique E, Tang E, Perez J, Coudert A, Bazin D, Verpont MC, Duranton C, Rubera I, Haymann JP, Leftheriotis G, Martin L, Daudon M, Letavernier E. Vitamin D and Calcium Supplementation Accelerates Randall’s Plaque Formation in a Murine Model. Am J Pathol. 2019;189:2171-2180.
Chatziralli I, Saitakis G, Dimitriou E, Chatzirallis A, Stoungioti S, Theodossiadis G, Theodossiadis P. Angioid streaks: a comprehensive review from pathophysiology to treatment. 2019;39:1-11.
Chen KJ. Angioid Streaks and Other Retinopathy in Pseudoxanthoma Elasticum. JAMA Ophthalmol. 2019;137:e193129.
Chisti MA, Binamer Y, Alfadley A, Almutawa A. D-penicillamine-induced pseudo-pseudoxanthoma elasticum and extensive elastosis perforans serpiginosa with excellent response to acitretin. Ann Saudi Med. 2019;39:56-60.
Contrò G, Tallerico R, Dattilo V, Fabiani F, Enzo MV, Hladnik U, Dastoli S, Nisticò SP, Colao E, Perrotti N, Iuliano R. A novel ABCC6variant causative of pseudoxanthoma elasticum. Hum Genome Var. 2019;6:30.
D’Marco L, Soto C, Dapena F. Pseudoxanthoma Elasticum and Cardiorenal Disease: A Case Report. Eur J Case Rep Intern Med. 2019;7:001260.
Demir G, Altan C, Cakmak S, Topcu H, Yasa D, Demircan A, Alkin Z. Evaluation of lamina cribrosa in angioid streaks using spectral-domain optical coherence tomography enhanced depth imaging. J Fr Ophtalmol. 2019;42:586-591.
Devassy DE, Harshad SR, Devarbhai H. Pompholyx-Like Eruptions Induced by Penicillamine in a Patient with Wilson’s Disease. Indian J Dermatol. 2019;64:321-323.
Devriese M, Legrand A, Courtois MC, Jeunemaitre X, Albuisson J. Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency. Vasc Med. 2019;24:461-464.
Domínguez-Serrano FB, Morillo-Sánchez MJ, Molina-Solana P, Rodríguez-de-la-Rúa-Franch E. Geographical atrophy in pseudoxanthoma elasticum. Arch Soc Esp Oftalmol (Engl Ed). 2019;94:e95-e96.
Gliem M, Birtel J, Müller PL, Hendig D, Faust I, Herrmann P, Holz FG, Adamus G, Charbel Issa P. Acute Retinopathy in Pseudoxanthoma Elasticum. JAMA Ophthalmol. 2019;137:1165-1173.
Gómez Moyano E, Martinez Pilar L, Rodriguez Calvo de Mora M, Ayala Blanca M. Pseudoxanthoma elasticum. Med Clin (Barc). 2019;152:e41.
Huang J, Snook AE, Uitto J, Li Q. Adenovirus-Mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders. J Invest Dermatol. 2019;139:1254-1263.
Ibold B, Faust I, Tiemann J, Gorgels TGMF, Bergen AAB, Knabbe C, Hendig D. Abcc6 deficiency in mice leads to altered ABC transporter gene expression in metabolic active tissues. Lipids Health Dis. 2019;18:2.
Ishikawa M, Motegi SI, Toki S, Endo Y, Yasuda M, Ishikawa O. Calciphylaxis and nephrogenic fibrosing dermopathy with pseudoxanthoma elasticum-like changes: Successful treatment with sodium thiosulfate. J Dermatol. 2019;46:e240-e242.
Jacquin-Porretaz C, Aubin F, Vibratte F, Valmary S, Petitjean A, Algros MP, Puzenat E. Pseudoxanthoma elasticum-like papillary dermal elastolysis: A case report. Ann Dermatol Venereol. 2020;147:194-197.
Khan FF, Erfan M, Kanwal N, Naeem M. Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype. Mol Biol Rep. 2019;46:1363-1368.
Kranenburg G, Baas AF, de Jong PA, Asselbergs FW, Visseren FLJ, Spiering W; SMART study-group. The prevalence of pseudoxanthoma elasticum: Revised estimations based on genotyping in a high vascular risk cohort. Eur J Med Genet. 2019;62:90-92.
Lebwohl M, Rose S, Fuchs W, Terry SF. Reply to: “Comment on ‘Magnesium supplementation in the treatment of pseudoxanthoma elasticum: Is magnesium oxide the best choice?'”. J Am Acad Dermatol. 2019;81:e137.
Letavernier E, Bouderlique E, Zaworski J, Martin L, Daudon M. Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications. Int J Mol Sci. 2019;20:6353.
Li Q, Huang J, Pinkerton AB, Millan JL, van Zelst BD, Levine MA, Sundberg JP, Uitto J. Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6^-/-Mouse Model of PXE but Not in the Enpp1 Mutant Mouse Models of GACI. J Invest Dermatol. 2019;139:360-368.
Li Q, Philip VM, Stearns TM, Bubier JA, King BL, Low BE, Wiles MV, Saeidian AH, Sundberg BA, Uitto J, Sundberg JP. Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum. J Invest Dermatol. 2019;139:2447-2457.e7.
Li Q, van de Wetering K, Uitto J. Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development. Am J Pathol. 2019;189:216-225.
Lora Gonzalez M, Webb M, Shalin S. Periumbilical Papule: Answer. Am J Dermatopathol. 2019;41:531-532.
Maraite F, Bonnet S, Lepièce G. Pseudoxanthoma elasticum revealed by choroidal neovascularization. Rev Med Liege. 2019;74:401-405.
Mitre V, Brown D, Phung T, Hunt RD. Classic pseudoxanthoma elasticum in a girl with sickle cell disease. Pediatr Dermatol. 2019;36:e64-e65.
Murro V, Mucciolo DP, Giorgio D, Sodi A, Boraldi F, Quaglino D, Virgili G, Rizzo S. Intraretinal hyperreflective foci in PXE-related retinopathy with acquired vitelliform lesions: a long-term follow-up. Ophthalmic Genet. 2019;40:385-387.
Murro V, Mucciolo DP, Giorgio D, Sodi A, Boraldi F, Quaglino D, Virgili G, Rizzo S. Coquille d’oeuf in young patients affected with Pseudoxantoma elasticum. Ophthalmic Genet. 2019;40:242-246.
Navasiolava N, Gnanou M, Douillard M, Saulnier P, Aranyi T, Ebran JM, Henni S, Humeau H, Lefthériotis G, Martin L. The extent of pseudoxanthoma elasticum skin changes is related to cardiovascular complications and visual loss: a cross-sectional study. Br J Dermatol. 2019;180:207-208.
Nollet L, Van Gils M, Verschuere S, Vanakker OM. The Role of Vitamin K and Its Related Compounds in Mendelian and Acquired Ectopic Mineralization Disorders. Int J Mol Sci. 2019;20:2142.
Omarjee L, Fortrat JO, Larralde A, Pabic EL, Kauffenstein G, Laot M, Navasiolava N, Mention PJ, Carrillo Linares JL, Valdivielso P, Vanakker OM, Mahé G, Martin L, Lefthériotis G. Internal Carotid Artery Hypoplasia: A New Clinical Feature in Pseudoxanthoma Elasticum. J Stroke. 2019;21:108-111.
Omarjee L, Roy C, Leboeuf C, Favre J, Henrion D, Mahe G, Leftheriotis G, Martin L, Janin A, Kauffenstein G. Evidence of Cardiovascular Calcification and Fibrosis in Pseudoxanthoma Elasticum Mouse Models Subjected to DOCA-Salt Hypertension. Sci Rep. 2019;9:16327.
Omarjee L, Unger K, Mahe G. Comment on “Magnesium supplementation in the treatment of pseudoxanthoma elasticum:” Is magnesium oxide the best choice? J Am Acad Dermatol. 2019;81:e135-e136.
Ostuni A, Castiglione Morelli MA, Cuviello F, Bavoso A, Bisaccia F. Structural characterization of the L0 cytoplasmic loop of human multidrug resistance protein 6 (MRP6). Biochim Biophys Acta Biomembr. 2019;1861:380-386.
Panagou E, Ratynska M, Heelan K. Pseudoxanthoma elasticum-like papillary dermal elastolysis: a case report and review of literature. Int J Dermatol. 2019;58:93-97.
Persechino F, Giordano D, Marini CD, Franceschini C, Ardigò M, Persechino S. Dermoscopy, Optical Coherence Tomography, and Histological Correlation of Pseudoxanthoma Elasticum. Dermatol Pract Concept. 2019;9:209-210.
Pipelart V, Leroux B, Leruez S, Henni S, Navasiolava N, Martin L, Ebran JM. A study of optic nerve head drusen in 38 pseudoxanthoma elasticum (PXE) patients (64 eyes). Location of optic nerve head drusen in PXE. J Fr Ophtalmol. 2019;42:262-268.
Pomozi V, Julian CB, Zoll J, Pham K, Kuo S, Tőkési N, Martin L, Váradi A, Le Saux O. Dietary Pyrophosphate Modulates Calcification in a Mouse Model of Pseudoxanthoma Elasticum: Implication for Treatment of Patients. J Invest Dermatol. 2019;139:1082-1088.
Pruitt LG, Kidd LL, Gru AA. A 56-Year-Old Woman With Multiple Subcutaneous Painful Nodules in the Absence of Renal Disease: Answer. Am J Dermatopathol. 2019;41:71-72.
Risseeuw S, Ossewaarde-van Norel J, Klaver CCW, Colijn JM, Imhof SM, van Leeuwen R. Reply_ Sontacchi Correspondence. 2019;39:e8.
Risseeuw S, Ossewaarde-van Norel J, Klaver CCW, Colijn JM, Imhof SM, van Leeuwen R. Visual acuity in pseudoxanthoma elasticum. 2019;39:1580-1587.
Rose S, On SJ, Fuchs W, Chen C, Phelps R, Kornreich D, Haddican M, Singer G, Wong V, Baum D, Vekaria A, Gagliotti M, Huang R, Suárez-Fariñas M, Terry SF, Lebwohl M. Magnesium supplementation in the treatment of pseudoxanthoma elasticum: A randomized trial. J Am Acad Dermatol. 2019;81:263-265.
Salas-Alanis JC, Cepeda-Valdes R, Fortuna G, Li Q, Uitto J. Pseudoxanthoma elasticum: Dermoscopy and mutation analysis. Australas J Dermatol. 2019;60:e156-e158.
Sánchez-Tévar AM, García-Fernández M, Murcia-Casas B, Rioja-Villodres J, Carrillo JL, Camacho M, Van Gils M, Sánchez-Chaparro MA, Vanakker O, Valdivielso P. Plasma inorganic pyrophosphate and alkaline phosphatase in patients with pseudoxanthoma elasticum. Ann Transl Med. 2019;7:798.
Sontacchi D, Sontacchi B, Martin L, Predović J, Kokot A, Šarić VB.Correspondence_on Pseudoxanthomna elasticum. Retina. 2019;39:e7-e8.
Souza PVS, Badia BML, Pinto WBVR, Oliveira ASB, Silva LHL, Seneor DD, Marin VDGB, Teixeira Júnior CAC, Chieia MAT, Farias IB. Pseudoxanthoma elasticum presenting as akinetic-rigid parkinsonism and dementia. Arq Neuropsiquiatr. 2019;77:525-526.
Spaide RF, Yannuzzi L, Freund KB, Mullins R, Stone E. Eyes with subretinal drusenoid deposits and no drusen: progression of Macular Findings. 2019;39:12-26.
Staretz-Chacham O, Shukrun R, Barel O, Pode-Shakked B, Pleniceanu O, Anikster Y, Shalva N, Ferreira CR, Ben-Haim Kadosh A, Richardson J, Mane SM, Hildebrandt F, Vivante A. Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. Am J Med Genet A. 2019;179:2112-2118.
Sun Q, Wang W, Wu L, Cheng L, Tong X, Xu X. Unexpected ABCC6 mRNA splicing in a Chinese family with pseudoxanthoma elasticum. Acta Ophthalmol. 2019;97:e381-e389.
Traine PG, Scheib C, Garweg JG. Choroidal Neovascularization Resulting from Angioid Streaks in Pseudoxanthoma Elasticum. Ophthalmol Retina. 2019;3:31.
Van Gils M, Nollet L, Verly E, Deianova N, Vanakker OM. Cellular signaling in pseudoxanthoma elasticum: an update. Cell Signal. 2019;55:119-129.
Vishwanath T, Nagpal A, Shinde G. Periumbilical Papules in a Middle-aged Woman. JAMA Dermatol. 2019;155:1418-1419.
Waqar M, Dhingra N. Angioid streaks in pseudoxanthoma elasticum. Postgrad Med J. 2019;95:220.
Whyte MP, Amalnath SD, McAlister WH, McKee MD, Veis DJ, Huskey M, Duan S, Bijanki VN, Alur S, Mumm S. Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy? 2020;132:115190.
Whyte MP, McAlister WH, Mumm S, Bierhals AJ. No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia. 2019;122:231-236.
Wightman AJ, Guymer RH. Reticular pseudodrusen: current understanding. Clin Exp Optom. 2019;102:455-462.
Witkin AJ. Potentially Novel Acute Retinopathy Similar to Multiple Evanescent White Dot Syndrome in Patients With Pseudoxanthoma Elasticum. JAMA Ophthalmol. 2019;137:1173-1174.

2018

Battaglia Parodi M, Casalino G, Iacono P, Introini U, Adamyan T, Bandello F. The expanding clinical spectrum of choroidal excavation in macular dystrophies. Retina. 2018; 38: 2030-2034.
Battaglia-Parodi M, Romano F, Bandello F. Comet Lesions in Retinitis Pigmentosa. Retina. 2018; 38: e46-e47.
Bertamino M, Severino M, Grossi A, Rusmini M, Tortora D, Gandolfo C, Pederzoli S, Malattia C, Picco P, Striano P, Ceccherini I, Di Rocco M; Gaslini Pediatric Stroke Group. ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum. Eur J Paediatr Neurol. 2018; 22: 725-728.
Boraldi F, Burns JS, Bartolomeo A, Dominici M, Quaglino D. Mineralization by mesenchymal stromal cells is variously modulated depending on commercial platelet lysate preparations. Cytotherapy. 2018; 20: 335-342.
Carrillo-Linares JL, García-Fernández MI, Morillo MJ, Sánchez P, Rioja J, Barón FJ, Ariza MJ, Harrington DJ, Card D, Boraldi F, Quaglino D, Valdivielso P. The Effects of Parenteral K1 Administration in Pseudoxanthoma ElasticumPatients Versus Controls. A Pilot Study. Front Med (Lausanne). 2018; 5:86.
Chiu BQ, Tsui E, Hussnain SA, Barbazetto IA, Smith RT. Multimodal imaging of angioid streaks associated with turner syndrome.Retin Cases Brief Rep. 2018
Colucciello M. Pneumatic compaction treatment of acute subfoveal hemorrhage after blunt trauma in a patient with angioid streaks associated with pseudoxanthoma elasticum. Retin Cases Brief Rep. 2018.
Daugherty A, Glass JS, Sorrells T. Agminated papules on the neck. Cutis. 2018;102:E5-E7.
De Vilder EYG, Cardoen S, Hosen MJ, Le Saux O, De Zaeytijd J, Leroy BP, De Reuck J, Coucke PJ, De Paepe A, Hemelsoet D, Vanakker OM. Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke. Brain Pathol. 2018; 28: 822-831.
Dordoni C, Gatti M, Venturini M, Zanca A, Cinquina V, Santoro G, Battocchio S, Calzavara-Pinton P, Ritelli M, Colombi M.Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity. J Dermatol Sci. 2018; 89: 201-204.
Ebran JM, Martin L, Leftheriotis, Navasiolava N, Ferre M, Milea D, Leruez S. Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum. Graefes Arch Clin Exp Ophthalmol. 2018; 256: 699-707.
Ferreira BFA, Preti RC, Schmidt MB, Zacharias LC, Takahashi WY, Monteiro MLR. Multimodal imaging of focal choroidal excavation complicated by choroidal neovascularization in a patient with angioid streaks and pseudoxanthoma elasticum. Retin Cases Brief Rep. 2018
Foering K, Torbeck RL, Frank MP, Saedi N. Treatment of pseudoxanthoma elasticum-like papillary dermal elastolysis with nonablative fractional resurfacing laser resulting in clinical and histologic improvement in elastin and collagen. J Cosmet Laser Ther. 2018; 20: 382-384.
Fukumoto T, Iwanaga A, Fukunaga A, Wataya-Kaneda M, Koike Y, Nishigori C, Utani A. First-genetic analysis of atypical phenotype of pseudoxanthoma elasticumwith ocular manifestations in the absence of characteristic skin lesions. J Eur Acad Dermatol Venereol. 2018; 32: e147-e149.
Fukumoto T, Iwanaga A, Fukunaga A, Wataya-Kaneda M, Koike Y, Nishigori C, Utani A. First-genetic analysis of atypical phenotype of pseudoxanthoma elasticumwith ocular manifestations in the absence of characteristic skin lesions. J Eur Acad Dermatol Venereol. 2018; 32:e147-e149.
Hoppé E, Etienne M, Legrand E, Rutsch F, Leftheriotis G, Martin L. Prevalence of shoulder calcification in pseudoxanthoma elasticum patients. Joint Bone Spine. 2018; 85: 777-778.
Jha AK, Zeeshan MD, Sinha BK, Singh A, Agrawal P. Periumbilical perforating pseudoxanthoma elasticum: a rare case report.Dermatol Pract Concept. 2018; 8: 75-77.
Kauffenstein G, Yegutkin GG, Khiati S, Pomozi V, Le Saux O, Leftheriotis G, Lenaers G, Henrion D, Martin L. Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum. J Invest Dermatol. 2018; 138: 1862-1870.
Kawashima S, Togawa Y, Miyachi H, Matsue H. Dermoscopic features of pseudoxanthoma elasticum. Clin Exp Dermatol. 2018; 43: 175-179.
Kawashima S, Togawa Y, Miyachi H, Matsue H. Dermoscopic features of pseudoxanthoma elasticum. Clin Exp Dermatol. 2018; 43:175-179.
Kim J, Dalziel D. Pseudoxanthoma elasticum: successful long-term management of choroidal neovascularization secondary to angioid streaks with pro re nata intravitreal bevacizumab injections. Retin Cases Brief Rep. 2018
Kranenburg G, de Jong PA, Bartstra JW, Lagerweij SJ, Lam MG, Ossewaarde-van Norel J, Risseeuw S, van Leeuwen R, Imhof SM, Verhaar HJ, de Vries JJ, Slart RHJA, Luurtsema G, den Harder AM, Visseren FLJ, Mali WP, Spiering W. Etidronate for Prevention of Ectopic Mineralization in Patients With Pseudoxanthoma Elasticum. J Am Coll Cardiol. 2018; 71: 1117-1126.
Kranenburg G, Visseren FLJ, de Borst GJ, de Jong PA, Spiering W, SMART studygroup. Arterial stiffening and thickening in patients with pseudoxanthoma elasticum. Atherosclerosis. 2018; 270:160-165.
Kumar V. “Comet-tail” lesions of pseudoxanthoma elasticum. Indian J Ophthalmol. 2018; 66:300.
Kumar V. Reticular Pseudodrusen and Thin Choroid Are Associated With Angioid Streaks. Ophthalmic Surg Lasers Imaging Retina. 2018; 49: 402-408.
Legrand A, Benistan K, Mazzella JM, Adham S, Frank M, Jeunemaitre X, Albuisson J. Clinical utility gene card: for pseudoxanthoma elasticum. Eur J Hum Genet. 2018; 26: 919-924.
Letavernier E, Kauffenstein G, Huguet L, Navasiolava N, Bouderlique E, Tang E, Delaitre L, Bazin D, de Frutos M, Gay C, Perez J, Verpont MC, Haymann JP, Pomozi V, Zoll J, Le Saux O, Daudon M, Leftheriotis G, Martin L. ABCC6 Deficiency Promotes Development of Randall Plaque. J Am Soc Nephrol. 2018; 29: 2337-2347.
Li Q, Kingman J, Sundberg JP, Levine MA, Uitto J. Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/- ). Oncotarget. 2018; 9: 30721-30730.
Li Q, Uitto J. Heritable Ectopic Mineralization Disorders: Pathomechanisms and Potential Treatment. J Investig Dermatol Symp Proc. 2018; 19: S106-S107.
Li Q, Uitto J. Zebrafish Models of Ectopic Mineralization-The Paradigm of Pseudoxanthoma Elasticum. J Invest Dermatol. 2018; 138: 2301-2304.
Maki N, Komine M, Tsuda H, Fujita Y, Fujita E, Murata S, Demitsu T, Utani A, Ohtsuki M. Diagnosis of pseudoxanthoma elasticum in a 4-year-old boy. J Dermatol. 2018; 45: 244-246.
Maki N, Komine M, Tsuda H, Fujita Y, Fujita E, Murata S, Demitsu T, Utani A, Ohtsuki M. Diagnosis of pseudoxanthoma elasticum in a 4-year-old boy. J Dermatol. 2018; 45: 244-246.
Marchese A, Arrigo A, Bandello F, Parodi MB. Peripheral Linear Streaks in Pseudoxanthoma Elasticum. Ophthalmic Surg Lasers Imaging Retina. 2018; 49: e292-e295.
Marchese A, Romano F, Cicinelli MV, Bandello F, Battaglia Parodi M. Chorioretinal Punched-Out Lesions in Pseudoxanthoma Elasticum. Retina. 2018; 38: e43-e44.
Martinelli F, Cuviello F, Pace MC, Armentano MF, Miglionico R, Ostuni A, Bisaccia F. Extracellular ATP Regulates CD73 and ABCC6 Expression in HepG2 Cells. Front Mol Biosci. 2018; 5:75.
Mention PJ, Lacoeuille F, Leftheriotis G, Martin L, Omarjee L. 18F-Flurodeoxyglucose and 18F-Sodium Fluoride Positron Emission Tomography/Computed Tomography Imaging of Arterial and Cutaneous Alterations in Pseudoxanthoma Elasticum. Circ Cardiovasc Imaging. 2018; 11: e007060.
Mercuri SR, Cestone E, Bearzi P, Rizzo N, Paolino G. Dermoscopical and pathological findings in pseudoxanthoma elasticum-like papillary dermal elastolysis. G Ital Dermatol Venereol. 2018.
Mettang T, Streit M. Dermal Clues to Systemic Diseases. Dtsch Med Wochenschr. 2018; 143:1690-1699.
Meyer MD, Osswald S. Keratotic papules in an annular arrangement. JAAD Case Rep. 2018; 4: 851-853.
Micali G, Verzì AE, Quattrocchi E, Ng CY, Lacarrubba F. Dermatoscopy of Common Lesions in Pediatric Dermatology. Dermatol Clin. 2018; 36: 463-472.
Miraglia E, Calvieri S, Giustini S. Pseudoxanthoma elasticum in Italy: epidemiological and clinical aspects. G Ital Dermatol Venereol. 2018
Mitre V, Brown D, Phung T, Hunt RD. Classic pseudoxanthoma elasticum in a girl with sickle cell disease. Pediatr Dermatol. 2019; 36: e64-e65.
Moreno JA, Romero, Alvarez A, Abella, Lorenzo D, Grimalt R. Subtle skin changes that suggest severe disease. BMJ. 2018;361: k1336.
Murro V, Mucciolo DP, Sodi A, Boraldi F, Quaglino D, Virgili G, Rizzo S. Peripapillary comet lesions and comet rain in PXE-related retinopathy. Graefes Arch Clin Exp Ophthalmol. 2018; 256:1605-1614.
Noureldine MHA, Taher AT, Haydar AA, Berjawi A, Khamashta MA, Uthman I. Rheumatological complications of beta-thalassaemia: an overview. Rheumatology (Oxford). 2018; 57:19-27.
Passon SG, Küllmar V, Blatzheim AK, Pausewang KS, Stumpf MJ, Hendig D, Gliem M, Pingel S, Schueler R, Skowasch D, Schahab N, Nickenig G, Schaefer CA. Carotid strain measurement in patients with pseudoxanthoma elasticum – Hint for a different pathomechanism? Intractable Rare Dis Res. 2018; 7: 25-31.
Penn LA, Brinster N. Calciphylaxis with pseudoxanthoma elasticum-like changes: A case series. J Cutan Pathol. 2018; 45: 118-121.
Perazzolli G, Girolomoni G, Colato C, Quaglino D. Segregation analysis revealed hemizygotic causative mutations in a pseudoxanthoma elasticum patient. J Eur Acad Dermatol Venereol. 2018; 32: e365-e366.
Pipelart V, Leruez S, Martin L, Navasiolava N, Henni S, Ebran JM. Study of fundus examination by age in 158 pseudoxanthoma elasticumpatients. J Fr Ophtalmol. 2018; 41: 592-602.
Qorbani A, Fereidouni F, Levenson R, Lahoubi SY, Harmany ZT, Todd A, Fung MA. Microscopy with ultraviolet surface excitation (MUSE): A novel approach to real-time inexpensive slide-free dermatopathology. J Cutan Pathol. 2018; 45: 498-503.
Ran Y, Zheng A, Thibodeau PH. Structural analysis reveals pathomechanisms associated with pseudoxanthoma elasticum-causing mutations in the ABCC6 transporter. J Biol Chem. 2018; 293:15855-15866.
Risseeuw S, Ossewaarde-van Norel J, Klaver CCW, Colijn JM, Imhof SM, van Leeuwen R. Visual acuity in pseudoxanthoma elasticum. Retina. 2018
Salas-Alanis JC, Cepeda-Valdes R, Fortuna G, Li Q, Uitto J. Pseudoxanthoma elasticum: Dermoscopy and mutation analysis.Australas J Dermatol. 2018
Salerno C, Vento AR, Giacchino M, Lissidini G, Galimberti V, Corso G. Intra-operative radiotherapy management for breast cancer treatment in patients with pseudoxanthoma elasticum: A case report. Breast J. 2018; 24:385-387.
Salerno C, Vento AR, Giacchino M, Lissidini G, Galimberti V, Corso G. Intra-operative radiotherapy management for breast cancer treatment in patients with pseudoxanthoma elasticum: A case report. Breast J. 2018; 24: 385-387.
Sezer E, Öztürk E, Şahin DS. Papular elastorrhexis: clinical perspectives. Clin Cosmet Investig Dermatol. 2018; 11:541-544.
Tengattini V, Alessandrini A, Misciali C, Patrizi A, Piraccini BM. Pseudoxanthoma elasticum-ähnliche papilläre dermale Elastolyse bei frontal fibrosierender Alopezie. J Dtsch Dermatol Ges. 2018;16:1136-1138.
Tsang SH, Sharma T. Inborn Errors of Metabolism: Pseudoxanthoma Elasticum. Adv Exp Med Biol. 2018; 1085:187-189.
Uitto J, Li Q. Vascular Mineralization in Pseudoxanthoma Elasticum: Etidronate to the Rescue? J Am Coll Cardiol. 2018; 71: 1127-1129.
Van Gils M, Willaert A, De Vilder EYG, Coucke PJ, Vanakker OM. Generation and Validation of a Complete Knockout Model of abcc6a in Zebrafish. J Invest Dermatol. 2018; 138: 2333-2342.
Vos A, Kranenburg G, de Jong PA, Mali WPTM, Van Hecke W, Bleys RLAW, Isgum I, Vink A, Spiering W. The amount of calcifications in pseudoxanthoma elasticum patients is underestimated in computed tomographic imaging; a post-mortem correlation of histological and computed tomographic findings in two cases. Insights Imaging. 2018; 9: 493-498.
Waqar M, Dhingra N. Angioid streaks in pseudoxanthoma elasticum. Postgrad Med J. 2018: postgradmedj-2018-136088.
Wightman AJ, Guymer RH. Reticular pseudodrusen: current understanding. Clin Exp Optom. 2018.
Zineb K. Ophthalmologic manifestations of pseudoxanthoma elasticum.Oman J Ophthalmol. 2018;11: 88-89.

2017

Almeida HL Jr, Almeida MG, Jorge VM, Abreu LB. Ultrastructural aspects of pseudoxanthoma elasticum. An Bras Dermatol. 2017; 92: 527-530.
Andreanos KD, Rotsos T, Koutsandrea C, Kymionis GD, Georgalas I, Ladas ID. Detection of nonexudative choroidal neovascularization secondary to angioid streaks using optical coherence tomography angiography. Eur J Ophthalmol. 2017; 27: e140-e143.
Anzai F, Kunii H, Kanno Y, Kamioka M, Kobayashi A, Suzuki H, Saitoh S, Takeishi Y. Successful revascularization of advanced coronary artery disease associated with pseudoxanthoma elasticum. J Cardiol Cases. 2017; 16: 101-104.
Baldan A, Giusti A, Bosi C, Malaventura C, Forni G, Borgna-Pignatti C. Pseudoxanthoma Elasticum-Like in β-Thalassemia Major, a matter of α-Klotho and Parathyroid Hormone? Hemoglobin. 2017; 41: 254-259.
Boraldi F, Losi L, Quaglino D. Pigment epithelial-derived factor: a new player in the calcification of dermal elastic fibre. Br J Dermatol. 2017; 177: e44-e46.
Danieliute L, Tsagkataki M, Nikita E. Spontaneous Dislocation of Trabeculectomy Scleral Flap in the Anterior Chamber in a Patient With Pseudoxanthoma Elasticum. J Glaucoma. 2017; 26:e105-e106.
De Vilder EY, Debacker J, Vanakker OM. GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.Int J Mol Sci. 2017; 18: E240.
Dedinszki D, Szeri F, Kozák E, Pomozi V, Tőkési N, Mezei TR, Merczel K, Letavernier E, Tang E, Le Saux O, Arányi T, van de Wetering K, Váradi A. Oral administration of pyrophosphate inhibits connective tissue calcification. EMBO Mol Med. 2017; 9: 1463-1470.
Dibi A, Mouane N, El Fahime E, Dafiri R, Bentahila A. Vascular calcification in pseudoxanthoma elasticum in children. J Med Vasc. 2017; 42: 333-337.
Dolz-Marco R, Litts KM, Tan ACS, Freund KB, Curcio CA. The Evolution of Outer Retinal Tubulation, a Neurodegeneration and Gliosis Prominent in Macular Diseases. Ophthalmology. 2017; 124:1353-1367.
Faust I, Donhauser E, Fischer B, Ibold B, Kuhn J, Knabbe C, Hendig D. Characterization of dermal myofibroblast differentiation in pseudoxanthoma elasticum. Exp Cell Res. 2017; 360:153-162.
Favre G, Laurain A, Aranyi T, Szeri F, Fulop K, Le Saux O, Duranton C, Kauffenstein G, Martin L, Lefthériotis G. The ABCC6 Transporter: A New Player in Biomineralization. Int J Mol Sci. 2017;18: E1941.
Florell AJ, Wada DA, Hawkes JE. Linear focal elastosis associated with exercise. JAAD Case Rep. 2017; 3: 39-41.
Fukuda H, Mukai H, Otani A, Oharaseki T, Takahashi M. Dermoscopic findings of pseudoxanthoma elasticum-like papillary dermal elastolysis. Eur J Dermatol. 2017; 27: 99-100.
Gadaldi K, Wiednig M, Cerroni L. Asymptomatic, Tiny Yellowish Papules on the Back of the Wrist: Challenge. Am J Dermatopathol. 2017; 39 :e161-e162.
Germain DP. Pseudoxanthoma elasticum. Orphanet J Rare Dis. 2017; 12: 85.
Gliem M, Müller PL, Birtel J, McGuinness MB, Finger RP, Herrmann P, Hendig D, Holz FG, Charbel Issa P. Quantitative Fundus Autofluorescence in Pseudoxanthoma Elasticum. Invest Ophthalmol Vis Sci. 2017; 58: 6159-6165.
Gottesman SP, Yousefi E, Gupta R. Hydrophilic polymer vasculopathy with coinciding pseudoxanthoma elasticum-like changes in an amputated toe. J Cutan Pathol. 2017; 44: 393-396.
Han JY, Lee CE, Kim YC. Acute Angle Closure Glaucoma in a Patient with Pseudoxanthoma Elasticum. Korean J Ophthalmol. 2017; 31:462-463.
Humeau-Heurtier A, Colominas MA, Schlotthauer G, Etienne M, Martin L, Abraham P. Bidimensional unconstrained optimization approach to EMD: An algorithm revealing skin perfusion alterations in pseudoxanthoma elasticum patients. Comput Methods Programs Biomed. 2017; 140:233-239.
Iwanaga A, Okubo Y, Yozaki M, Koike Y, Kuwatsuka Y, Tomimura S, Yamamoto Y, Tamura H, Ikeda S, Maemura K, Tsuiki E, Kitaoka T, Endo Y, Mishima H, Yoshiura KI, Ogi T, Tanizaki H, Wataya-Kaneda M, Hattori T, Utani A. Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum. J Dermatol. 2017; 44: 644-650.
Kakurai K, Hayashi M, Yamada K, Ishizaki N, Yonemoto Y, Morishita S, Kohmoto R, Sato T, Kida T, Ikeda T. A case of pseudoxanthoma elasticum with proliferative diabetic retinopathy. BMC Ophthalmol. 2017; 17: 184.
Katagiri S, Negishi Y, Mizobuchi K, Urashima M, Nakano T, Hayashi T. ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance. J Ophthalmol. 2017; 2017:1079687.
Kauw F, Kranenburg G, Kappelle LJ, Hendrikse J, Koek HL, Visseren FLJ, Mali WPT, de Jong PA, Spiering W. Cerebral disease in a nationwide Dutch pseudoxanthoma elasticum cohort with a systematic review of the literature. J Neurol Sci. 2017; 373: 167-172.
Kranenburg G, de Jong PA, Mali WP, Attrach M, Visseren FL, Spiering W. Prevalence and severity of arterial calcifications in pseudoxanthoma elasticum (PXE) compared to hospital controls. Novel insights into the vascular phenotype of PXE. Atherosclerosis. 2017; 256:7-14.
Lacarrubba F, Verzì AE, Caltabiano R, Micali G. Dermoscopy of pseudoxanthoma elasticum. J Am Acad Dermatol. 2017; 76: S69-S70.
Leblebici C, Falay T, Zırtıloğlu S, Demirkesen C. Cutis laxa-like pseudoxanthoma elasticum with osteoma cutis. Indian J Dermatol Venereol Leprol. 2017; 83: 464-467.
Legrand A, Cornez L, Samkari W, Mazzella JM, Venisse A, Boccio V, Auribault K, Keren B, Benistan K, Germain DP, Frank M, Jeunemaitre X, Albuisson J. Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. Genet Med. 2017;19: 909-917.
Li Q, Kingman J, van de Wetering K, Tannouri S, Sundberg JP, Uitto J. Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum. J Invest Dermatol. 2017; 137: 1025-1032.
Liaqat M, Heymann WR. Anticoagulation in Patients with Pseudoxanthoma Elasticum. Skinmed. 2017; 15: 319-320.
Liu ZQ, Chen XB, Song FY, Gao K, Qiu MF, Qian Y, Du M. Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review. Zhonghua Er Ke Za Zhi. 2017; 55: 858-861.
Lock AD, Deroide F, Rustin MH, Jolliffe V. Unusual skin changes on the neck. Clin Exp Dermatol. 2017; 42: 351-353.
Maarouf M, Sharon VR, Sivamani RK, Prakash N, Bipin TH, Davis T, Shi VY. Familial pseudoxanthoma elasticum associated with multiple comedones. Dermatol Online J. 2017; 23: 7181.
Martin L, Hoppé E, Kauffenstein G, Omarjee L, Navasiolava N, Henni S, Willoteaux S, Leftheriotis G. Early arterial calcification does not correlate with bone loss in pseudoxanthoma elasticum. Bone. 2017; 103:88-92.
Miglionico R, Ostuni A, Armentano MF, Milella L, Crescenzi E, Carmosino M, Bisaccia F. ABCC6 knockdown in HepG2 cells induces a senescent-like cell phenotype. Cell Mol Biol Lett. 2017; 22:7.
Mimoun G, Ebran JM, Grenet T, Donati A, Cohen SY, Ponthieux A. Ranibizumab for choroidal neovascularization secondary to pseudoxanthoma elasticum: 4-year results from the PIXEL study in France. Graefes Arch Clin Exp Ophthalmol. 2017; 255:1651-1660.
Moawad S, Martin L, Liegeon AL, Barbaud A, Schmutz JL, Bursztejn AC. Pseudoxanthoma elasticum and coeliac disease: a fortuitous association? Eur J Dermatol. 2017; 27: 179-181.
Moitra K, Garcia S, Jaldin M, Etoundi C, Cooper D, Roland A, Dixon P, Reyes S, Turan S, Terry S, Dean M. ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy. Int J Mol Sci. 2017; 18: E1488.
Muñoz Gómez MDM, Novella Navarro M, Ramírez Gómez M, Navas-Parejo A. A case report of pseudoxanthoma elasticum and systemic lupus erythematosus: An uncommon association? Reumatol Clin. 2017; 13: 183-184.
Nathoo RK, Harb JN, Auerbach J, Guo R, Vincek V, Motaparthi K. Pseudoxanthoma elasticum-like changes in nonuremic calciphylaxis: Case series and brief review of a helpful diagnostic clue. J Cutan Pathol. 2017; 44:1064-1069.
Nitschke Y, Rutsch F. Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts. Curr Osteoporos Rep. 2017;15: 255-270.
Okubo Y, Masuyama R, Iwanaga A, Koike Y, Kuwatsuka Y, Ogi T, Yamamoto Y, Endo Y, Tamura H, Utani A. Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules. PLoS One. 2017;12:e0177375.
Onishi AC, Nesper PL, Fawzi AA. Adaptive Optics Scanning Laser Ophthalmoscopy and Multimodal Imaging of Peau D’Orange in Pseudoxanthoma Elasticum. Ophthalmic Surg Lasers Imaging Retina. 2017; 48: 436-440.
Pingel S, Pausewang KS, Passon SG, Blatzheim AK, Gliem M, Charbel Issa P, Hendig D, Horlbeck F, Tuleta I, Nickenig G, Schahab N, Skowasch D, Schaefer CA. Increased vascular occlusion in patients with pseudoxanthoma elasticum. Vasa. 2017; 46: 47-52.
Pomozi V, Brampton C, Szeri F, Dedinszki D, Kozák E, van de Wetering K, Hopkins H, Martin L, Váradi A, Le Saux O.Functional Rescue of ABCC6 Deficiency by 4-Phenylbutyrate Therapy Reduces Dystrophic Calcification in Abcc6-/- Mice. J Invest Dermatol. 2017; 137: 595-602.
Pomozi V, Brampton C, van de Wetering K, Zoll J, Calio B, Pham K, Owens JB, Marh J, Moisyadi S, Váradi A, Martin L, Bauer C, Erdmann J, Aherrahrou Z, Le Saux O. Pyrophosphate Supplementation Prevents Chronic and Acute Calcification in ABCC6-Deficient Mice. Am J Pathol. 2017; 187: 1258-1272.
Ran Y, Thibodeau PH. Stabilization of Nucleotide Binding Domain Dimers Rescues ABCC6 Mutants Associated with Pseudoxanthoma Elasticum. J Biol Chem. 2017; 292:1559-1572.
Ribeiro CP, Abuawad YG, Swiczar BCC, Valente NYS. Pseudoxanthoma elasticum-like papillary dermal elastolysis. An Bras Dermatol. 2017; 92: 897-898.
Sabater-Marco V, Sanz-Motilva V, Botella-Estrada R. A Pseudoxanthoma Elasticum-Like Papular Eruption: Challenge. Am J Dermatopathol. 2017; 39: 459-460.
Sabater-Marco V, Sanz-Motilva V, Botella-Estrada R. Pseudoxanthoma Elasticum-Like Papular Eruption. Am J Dermatopathol. 2017; 39: e73-e74.
Sasso BM, Cintra ML, de Souza EM. Pseudoxanthoma elasticum. Autops Case Rep. 2017; 7: 18-21.
Shoumnalieva-Ivanova V, Tanev I, Zdravkov Y, Monov S, Shumnalieva R. Angioid streaks in aagenaes syndrome. Int Ophthalmol. 2017; 37: 1065-1068.
Singh A, Bhari N, Bhari A. Dermoscopy of pseudoxanthoma elasticum. BMJ Case Rep. 2017; bcr-2017-221365.
Spaide RF. Choriocapillaris signal voids in maternally inherited diabetes and deafness and in pseudoxanthoma elasticum. Retina. 2017; 37: 2008-2014.
Terry SF. Turning Toward Participants in Biobanking. Genet Test Mol Biomarkers. 2017; 21:132-133.
Uitto J, Li Q, van de Wetering K, Váradi A, Terry SF. Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016. J Invest Dermatol. 2017; 137: 790-795.
Valbuena V, Assaad D, Yeung J. Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis: A Single Case Report. J Cutan Med Surg. 2017; 21: 345-347.
Váradi A, Fülöp K, Arányi T, Szeri F. Tissue-nonspecific alkaline phosphatase: a promising target for pseudoxanthoma elasticum therapy. Ann Transl Med. 2017; 5:489.
Wilhjelm JK, Sommerlund M, Andersen G, Andersen NH. A stalactite in the aorta. Abnormal calcification in a patient with pseudoxanthoma elasticum. Acta Cardiol. 2017; 72: 77-78.
Zhao J, Kingman J, Sundberg JP, Uitto J, Li Q. Plasma PPi Deficiency Is the Major, but Not the Exclusive, Cause of Ectopic Mineralization in an Abcc6-/- Mouse Model of PXE. J Invest Dermatol. 2017; 137: 2336-2343.
Ziegler SG, Ferreira CR, MacFarlane EG, Riddle RC, Tomlinson RE, Chew EY, Martin L, Ma CT, Sergienko E, Pinkerton AB, Millán JL, Gahl WA, Dietz HC. Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase. Sci Transl Med. 2017; 9: eaal1669.

2016

Bhoiwala DL, Dunaief JL. Retinal abnormalities in β-thalassemia major. Surv Ophthalmol. 2016; 61: 33-50.
Boraldi F, Bartolomeo A, De Biasi S, Orlando S, Costa S, Cossarizza A, Quaglino D. Innovative flow cytometry allows accurate identification of rare circulating cells involved in endothelial dysfunction. PLoS One. 2016;11:e0160153.
Camacho M, Rengel C, López-Herrero E, Carrillo JL, Eslava AJ, Valdivielso P. Approach to the management of pregnancy in patients with pseudoxanthoma elasticum: a review. J Obstet Gynaecol. 2016;13:1-6.
Cotard S, Nouni A, Jaquinandi V, Gladu G, Kaladji A, Mahé G. Peripheral artery disease in patients younger than 50 years old: Which etiology?. Ann Cardiol Angeiol (Paris). 2016;65:275-85.
Decani S, Varoni EM, Baruzzi E, Moneghini L, Lodi G, Sardella A. Pseudoxanthoma elasticum of the palate: a case report and a brief review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol. 2016; 121:e6-9.
Dibi A, El Fahime EL, Mouane N, Dafiri R, Bentahila A. Pseudoxanthoma elasticum: A rare cause of gastrointestinal bleeding in children. Arch Pediatr. 2016; 23: 591-4.
Ebran JM, Mimoun G, Cohen SY, Grenet T, Donati A, Jean-Pastor MJ, Ponthieux A, Bouchet C. Treatment with ranibizumab for choroidal neovascularization secondary to a pseudoxanthoma elasticum: Results of the French observational study PiXEL. J Fr Ophtalmol. 2016; 39: 370-5.
Figueiredo AC, Mata-Machado N, McCoyd M, Biller J. Neurocutaneous Disorders for the Practicing Neurologist: a Focused Review. Curr Neurol Neurosci Rep. 2016; 16:19.
Frimmel S, Kniestedt C. Angioid Streaks in Types I and II Congenital Dyserythropoietic Anaemia (CDA). Klin Monbl Augenheilkd. 2016; 233: 482-7.
Gambichler T, Reininghhaus L, Schaller J. Early-onset pseudoxanthoma elasticum-like papillary dermal elastolysis. J Eur Acad Dermatol Venereol. 2016; 30: 448-9.
Gliem M, Müller PL, Birtel J, Hendig D, Holz FG, Charbel Issa P. Frequency, Phenotypic Characteristics and Progression of Atrophy Associated With a Diseased Bruch’s Membrane in Pseudoxanthoma Elasticum. Invest Ophthalmol Vis Sci. 2016; 57:3323-30.
Gologorsky D, Gregori NZ, Goldhardt R. Image Gallery: Dermatologic and retinal manifestations of pseudoxanthoma elasticum. Br J Dermatol. 2016; 174: e21.
Gusdorf L, Mitcov M, Maradeix S, Cunat S, Martin L, Cribier B. Pseudoxanthoma elasticum-like disease with deficiency of vitamin K-dependent clotting factors and cutis laxa features. Ann Dermatol Venereol. 2016; 143: 279-83.
Hocaoglu M, Karacorlu M, Sayman Muslubas I, Arf S, Ozdemir H, Uysal O. Visual impairment in pseudoxanthoma elasticum: a survey of 53 patients from Turkey. Eur J Ophthalmol. 2016; 26: 449-53.
Li Q, Arányi T, Váradi A, Terry SF, Uitto J. Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders. J Invest Dermatol. 2016; 136: 550-6.
Li Q, Kingman J, Sundberg JP, Levine MA, Uitto J. Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/-). Oncotarget. 2016; in press
Liaska A, Petrou P, Georgakopoulos CD, Diamanti R, Papaconstantinou D, Kanakis MG, Georgalas I. β-Thalassemia and ocular implications: a systematic review. BMC Ophthalmol. 2016;16:102
Meunier N, Zaleski L. Pseudoxanthoma Elasticum: report of a case with a novel gene mutation. Dermatol Online J. 2016; 22:pii13030/qt22k631d0.
Miglionico R, Gerbino A, Ostuni A, Armentano MF, Monné M, Carmosino M, Bisaccia F. New insights into the roles of the N-terminal region of the ABCC6 transporter. J Bioenerg Biomembr. 2016; 48: 259-67.
Muñoz Gómez MD, Novella Navarro M, Ramírez Gómez M, Navas-Parejo A. A case report of pseudoxanthoma elasticum and systemic lupus erythematosus: An uncommon association? Reumatol Clin. 2016: pii S1699-258X(16)30023-7.
Narayanan H, Cheng K, Lau K, Harish R, Bowden DK. Imaging manifestations of acquired elastopathy resembling pseudoxanthoma elasticum in patients with beta thalassaemia major and sickle cell disease. J Med Imaging Radiat Oncol. 2016; 60: 74-82.
Nasca MR, Lacarrubba F, Caltabiano R, Verzì AE, Micali G. Perforating pseudoxanthoma elasticum with secondary elastosis perforans serpiginosa-like changes: dermoscopy, confocal microscopy and histopathological correlation. J Cutan Pathol. 2016, in press
Oiso N, Okubo Y, Utani A, Kawada A. Pseudoxanthoma elasticum with peculiar acne scar of the neck: Dermoscopic features of tissue bridges as intact skin between crater-like acne scars. J Dermatol. 2016; 43: 454-6.
Oztas Z, Karadeniz C, Afrashi F, Nalcaci S, Yaman B. Minor trauma resulting in subretinal haemorrhage with choroidal rupture: a case of subtle pseudoxanthoma elasticum in a child. Clin Exp Optom. 2016; 99: 84-6.
Pingel S, Passon SG, Pausewang KS, Blatzheim AK, Pizarro C, Tuleta I, Gliem M, Charbel Issa P, Schahab N, Nickenig G, Skowasch D, Schaefer CA. Pseudoxanthoma Elasticum – Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum. PLoS One. 2016; 11:e0162337.
Rashdan NA, Rutsch F, Kempf H, Váradi A, Lefthériotis G, MacRae VE. New perspectives on rare connective tissue calcifying diseases. Curr Opin Pharmacol. 2016; 28: 14-23.
Seeger H, Mohebbi N. Pseudoxanthoma elasticum and nephrocalcinosis. Kidney Int. 2016; 89: 1407.
Shoumnalieva-Ivanova V, Tanev I, Zdravkov Y, Monov S, Shumnalieva R. Angioid streaks in aagenaes syndrome. Int Ophthalmol. 2016, in press
Stella J, Buers I, van de Wetering K, Höhne W, Rutsch F, Nitschke Y. Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/ Phosphodiesterase Family Member 1. Hum Mutat. 2016; in press
Tromp TR, Kranenburg G, Ossewaarde-van Norel J, Spiering W. Pseudoxanthoma elasticum: A disorder with different manifestations. Ned Tijdschr Geneeskd. 2016;160:D203.
Venkatachalam K, Chennamsetty K. Elastosis perforans serpiginosa in a case of pseudoxanthoma elasticum: A rare association. Indian Dermatol Online J. 2016;7: 103-6.

2015

Alagöz C, Alagöz N, Özkaya A, Çelik U, Turan MF, Yazici AT, Çekiç O, Demirok A. Intravitreal bevacizumab in the treatment of choroidal neovascular membrane due to angioid streaks. Retina. 2015; 35:2001-10.
Apigian AK, Landry GJ. Basic data underlying decision making in nonatherosclerotic causes of intermittent claudication. Ann Vasc Surg. 2015; 29: 138-53.
Aung PP, Mahalingam M. Pseudoxanthoma elasticum-like change adjacent to a benign adnexal neoplasm: a histopathologic reaction pattern. Am J Dermatopathol. 2015; 37: 157-9.
Barteselli G, Viola F. Comet lesions in pseudoxanthoma elasticum: a spectral domain optical coherence tomography analysis. Retina. 2015; 35:1051-3.
Blazquez-Medela AM, Guihard PJ, Yao J, Jumabay M, Lusis AJ, Boström KI, Yao Y. ABCC6 deficiency is associated with activation of BMP signaling in liver and kidney. FEBS Open Bio. 2015; 5: 257-63.
Charbel Issa P, Gliem M, Holz FG, Knabbe C, Hendig D. Pseudodominant inheritance of pseudoxanthoma elasticum. Ophthalmologe. 2015; 112: 686-90.
Chariba S, Daoudi R. Angioid streaks and elastic pseudoxanthoma. Pan Afr Med J. 2015; 20: 250.
Cuviello F, Tellgren-Roth Å, Lara P, Ruud Selin F, Monné M, Bisaccia F, Nilsson I, Ostuni A. Membrane insertion and topology of the amino-terminal domain TMD0 of multidrug-resistance associated protein 6 (MRP6). FEBS Lett. 2015; 589: 3921-8.
De Vilder EY, Hosen MJ, Vanakker OM. The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders. Biomed Res Int. 2015; 2015: 648569.
De Vilder EY, Vanakker OM. From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders. World J Clin Cases. 2015; 3: 556-74.
Frew JW, Murrell DF, Haber RM. Fifty shades of yellow: a review of the xanthodermatoses. Int J Dermatol. 2015; 54:1109-23.
Gliem M, Hendig D, Finger RP, Holz FG, Charbel Issa P. Reticular pseudodrusen associated with a diseased bruch membrane in pseudoxanthoma elasticum. JAMA Ophthalmol. 2015; 133: 581-8.
Harrington C, Beck FM, Allen CM, Kalmar JR. The prevalence of pseudoxanthoma elasticum-like connective tissue changes in an oral biopsy service and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol. 2015; 119: 441-50.
Hemmady K, Tambe S, Jerajani HR. Asymptomatic esophageal varices in a case of pseudoxanthoma elasticum. Indian Dermatol Online J. 2015; 6 (Suppl 1: S65-6.
Hosen MJ, Van Nieuwerburgh F, Steyaert W, Deforce D, Martin L, Leftheriotis G, De Paepe A, Coucke PJ, Vanakker OM.Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum. J Invest Dermatol. 2015; 135:992-8.
Ibáñez-Samaniego L, Ochoa-Palominos A, Catalina-Rodríguez MV, Salcedo-Plaza M, Clemente-Ricote G. Penicillamine induced pseudo-pseudoxanthoma elasticum in a patient with Wilson’s disease, which role plays the hepatologist? Rev Esp Enferm Dig. 2015;107:190-1.
Jin L, Jiang Q, Wu Z, Shao C, Zhou Y, Yang L, Uitto J, Wang G. Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. J Invest Dermatol. 2015; 135: 1294-302.
Karam C, Soulat G, Germain DP, Lacombe P, Dubourg O. Coronary CT angiography for chest pain in pseudoxanthoma elasticum and cardiac intervention management. J Cardiovasc Comput Tomogr. 2015; 9:238-41.
Kringen MK, Stormo C, Berg JP, Terry SF, Vocke CM, Rizvi S, Hendig D, Piehler AP. Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum. Mol Genet Genomic Med. 2015; 3:233-7.
Kuhn J, Götting C, Beahm BJ, Bertozzi CR, Faust I, Kuzaj P, Knabbe C, Hendig D. Xylosyltransferase II is the predominant isoenzyme which is responsible for the steady-state level of xylosyltransferase activity in human serum. Biochem Biophys Res Commun. 2015; 459: 469-74.
Li Q, Kingman J, Uitto J. Mineral content of the maternal diet influences ectopic mineralization in offspring of Abcc6(-/-) mice. Cell Cycle. 2015; 14: 3184-9.
Li Q, Sundberg JP, Levine MA, Terry SF, Uitto J. The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene. Cell Cycle. 2015;14:1082-9.
Loader DE, Feldmann R, Wruhs M, Breier F, Steiner A. Xanthoma-like lesions in a 52-year-old female patient. J Dtsch Dermatol Ges. 2015; 13:1196-8.
Mackay EW, Apschner A, Schulte-Merker S. Vitamin K reduces hypermineralisation in zebrafish models of PXE and GACI. Development. 2015;142:1095-101.
Marconi B, Bobyr I, Campanati A, Molinelli E, Consales V, Brisigotti V, Scarpelli M, Racchini S, Offidani A. Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment. Intractable Rare Dis Res. 2015; 4:113-22.
Moore SN, Tanner SB, Schoenecker JG. Bisphosphonates: from softening water to treating PXE. Cell Cycle. 2015; 14: 1354-5.
Oudkerk SF, de Jong PA, Blomberg BA, Scholtens AM, Mali WP, Spiering W. Whole-Body Visualization of Ectopic Bone Formation of Arteries and Skin in Pseudoxanthoma Elasticum. JACC Cardiovasc Imaging. 2016; 9: 755-6.
Parodi MB, Iacono P, Bandello F. Pseudoxanthoma elasticum associated with vitelliform macular lesion. Ophthalmic Surg Lasers Imaging Retina. 2015; 46: 287-8.
Patterson AT, Beasley KJ, Kobayashi TT. Fibroelastolytic papulosis: histopathologic confirmation of disease spectrum variants in a single case. J Cutan Pathol. 2016; 43: 142-7.
Roach ES, Islam MP. Pseudoxanthoma elasticum. Handb Clin Neurol. 2015;132:215-21.
Sato Y, Hara T, Okubo Y, Utani A. Axillary syringomas misdiagnosed as pseudoxanthoma elasticum for years. J Dermatol. 2015; 42: 933-4.
Scafi M, Secq V, Darrason G, Jean E, Rossi P, Frances Y, Granel B. A wrinkled skin of the neck. Rev Med Interne. 2015; 36:229-30.
Sies K, Ruzicka T. Pseudoxanthoma elasticum. MMW Fortschr Med. 2015;157:60-1.
South AP, Li Q, Uitto J. Next-generation sequencing for mutation detection in heritable skin diseases: the paradigm of pseudoxanthoma elasticum. J Invest Dermatol. 2015; 135: 937-40.
Spaide RF, Jonas JB. Peripapillary atrophy with large dehiscences in bruch membrane in pseudoxanthoma elasticum. Retina. 2015; 35:1507-10.
Spaide RF. Peau d’orange and angioid streaks: manifestations of Bruch membrane pathology. Retina. 2015; 35:392-7.
Taverna D, Boraldi F, De Santis G, Caprioli RM, Quaglino D. Histology-directed and imaging mass spectrometry: An emerging technology in ectopic calcification. Bone. 2015;74: 83-94.
Uitto J, Wang G. Molecular Genetics of Heritable Skin Diseases: Pseudoxanthoma Elasticum as a Paradigm of China-US Collaboration. J Investig Dermatol Symp Proc. 2015; 17: 20-1.
Vanakker O, Callewaert B, Malfait F, Coucke P. The Genetics of Soft Connective Tissue Disorders. Annu Rev Genomics Hum Genet. 2015;16:229-55.
Vázquez-Osorio I, Rosón E, Suárez-Peñaranda JM, Vázquez-Veiga H. Pseudoxanthoma elasticum-like papillary dermal elastolysis. Actas Dermosifiliogr. 2015; 106: 333-6.

2014

Akoglu G, Li Q, Gokoz O, Gazyagci AS, Uitto J. Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum – presymptomatic testing and lack of carrier phenotypes. Int J Dermatol. 2014; 53: 692-8.
Apschner A, Huitema LF, Ponsioen B, Peterson-Maduro J, Schulte-Merker S. Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE). Dis Model Mech. 2014; 7: 811-22.
Araújo JR, Silva SE, Cruz F, Falcão-Reis F. Acute transient myopia with shallowing of the anterior chamber induced by sulfamethoxazole in a patient with pseudoxanthoma elasticum. J Glaucoma. 2014; 23:415-7.
Barteselli G, Dell’Arti L, Finger RP, Charbel Issa P, Marcon A, Vezzola D, Mapelli C, Cassinerio E, Cappellini MD, Ratiglia R, Viola F. The spectrum of ocular alterations in patients with β-thalassemia syndromes suggests a pathology similar to pseudoxanthoma elasticum. Ophthalmology. 2014; 121: 709-18.
Benitez-Herreros J, Camara-Gonzalez C, Lopez-Guajardo L, Beckford-Torngren C, Pareja-Esteban J. Choroidal neovascularization secondary to angioid streaks: A familial case report. Arch Soc Esp Oftalmol. 2014; 89: 190-3
Bière L, Donal E, Terrien G, Furber A, Martin L, Prunier F. Left ventricular function in a large cohort of pseudoxanthoma elasticum patients. PLoS One. 2014; 9: e90364.
Bonciani D, Bonciolini V, Verdelli A, D’Errico A, Antiga E, Volpi W, Fabbri P, Caproni M. Pseudoxanthoma elasticum: a rare cause of erectile dysfunction. G Ital Dermatol Venereol. 2014; 149:728-9.
Boraldi F, Annovi G, Bartolomeo A, Quaglino D. Fibroblasts from patients affected by Pseudoxanthoma elasticum exhibit an altered PPi metabolism and are more responsive to pro-calcifying stimuli. J Dermatol Sci. 2014; 74:72-80.
Boraldi F, Bartolomeo A, Li Q, Uitto J, Quaglino D. Changes in dermal fibroblasts from Abcc6(-/-) mice are present before and after the onset of ectopic tissue mineralization. J Invest Dermatol. 2014;134:1855-61.
Boraldi F, Costa S, Rabacchi C, Ciani M, Vanakker O, Quaglino D. Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients? Mol Genetics Metabolism Reports 2014; 1: 477-482
Chan CY, Papakostas TD, Vavvas DG. Choroidal changes associated with bruch membrane pathology in pseudoxanthoma elasticum. Am J Ophthalmol. 2014; 158: 644.
Dabisch-Ruthe M, Brock A, Kuzaj P, Charbel Issa P, Szliska C, Knabbe C, Hendig D. Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum. Clin Biochem. 2014; 47:60-7.
Dabisch-Ruthe M, Kuzaj P, Götting C, Knabbe C, Hendig D. Pyrophosphates as a major inhibitor of matrix calcification in Pseudoxanthoma elasticum. J Dermatol Sci. 2014; 75:109-20.
Debette S, Germain DP. Neurologic manifestations of inherited disorders of connective tissue. Handb Clin Neurol. 2014; 119: 565-76
Drue HC, Mogensen H, Olesen AW. Pregnancy jeopardized by pseudoxanthoma elasticum. Ugeskr Laeger. 2014; 176 pii: V04140206.
Ebran JM, Milea D, Trelohan A, Bonicel P, Hamel JF, Leftheriotis G, Martin L. New insights into the visual prognosis of pseudoxanthoma elasticum. Br J Ophthalmol. 2014; 98: 142-3.
Ferreira C, Ziegler S, Gahl W. Generalized Arterial Calcification of Infancy. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2016. 2014.
Freychet C, Gay C, Lavocat MP, Teyssier G, Patural H, Bacchetta J, Cottalorda J, Meunier BB, Linglart A, Baujat G, Stephan JL. GACI syndrome: a case report with a neonatal beginning. Arch Pediatr. 2014; 21: 632-6.
García-López A, González-Castaño C. Subretinal neovascular membrane in angioid streaks treated with intravitreal bevacizumab. Arch Soc Esp Oftalmol. 2014; 89: 203-6
Gayen T, Das A, Roy S, Biswas S, Shome K, Chowdhury SN. Pseudoxanthoma elasticum and nephrocalcinosis: Incidental finding or an infrequent manifestation? Indian Dermatol Online J. 2014; 5: 176-8.
Giovannoni I, Callea F, Travaglini L, Amodeo A, Cogo P, Secinaro A, Bizzarri C, Cutrera R, El Hachem M, Francalanci P.Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy. Eur J Pediatr. 2014; 173: 1735-40
Gliem M, Fimmers R, Müller PL, Brinkmann CK, Finger RP, Hendig D, Holz FG, Charbel Issa P. Choroidal changes associated with Bruch membrane pathology in pseudoxanthoma elasticum. Am J Ophthalmol. 2014; 158: 198-207.e3.
Hansen MS, Klefter ON, Larsen M. Retinal degeneration and persistent serous detachment in the absence of active choroidal neovascularization in pseudoxanthoma elasticum. Acta Ophthalmol. 2014; 92: e156-7.
Hosen MJ, Coucke PJ, Le Saux O, De Paepe A, Vanakker OM. Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum. Orphanet J Rare Dis. 2014; 9: 66
Hosen MJ, Zubaer A, Thapa S, Khadka B, De Paepe A, Vanakker OM. Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter. PLoS One. 2014; 9: e102779.
Jansen RS, Duijst S, Mahakena S, Sommer D, Szeri F, Váradi A, Plomp A, Bergen AA, Oude Elferink RP, Borst P, van de Wetering K. ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report. Arterioscler Thromb Vasc Biol. 2014; 34: 1985-9.
Kariminejad A, Bozorgmehr B, Najafi A, Khoshaeen A, Ghalandari M, Najmabadi H, Kariminejad MH, Vanakker OM, Hosen MJ, Malfait F, Quaglino D, Florijn RJ, Bergen AA, Hennekam RC. Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations. J Invest Dermatol. 2014; 134: 2331-
Kauffenstein G, Pizard A, Le Corre Y, Vessières E, Grimaud L, Toutain B, Labat C, Mauras Y, Gorgels TG, Bergen AA, Le Saux O, Lacolley P, Lefthériotis G, Henrion D, Martin L. Disseminated arterial calcification and enhanced myogenic response are associated with abcc6 deficiency in a mouse model of pseudoxanthoma elasticum. Arterioscler Thromb Vasc Biol. 2014;34:1045-56.
Kuzaj P, Kuhn J, Dabisch-Ruthe M, Faust I, Götting C, Knabbe C, Hendig D. ABCC6- a new player in cellular cholesterol and lipoprotein metabolism? Lipids Health Dis. 2014; 13:118.
Kuzaj P, Kuhn J, Michalek RD, Karoly ED, Faust I, Dabisch-Ruthe M, Knabbe C, Hendig D. Large-scaled metabolic profiling of human dermal fibroblasts derived from pseudoxanthoma elasticum patients and healthy controls. PLoS One. 2014; 9: e108336.
Lau WL, Liu S, Vaziri ND. Chronic kidney disease results in deficiency of ABCC6, the novel inhibitor of vascular calcification. Am J Nephrol. 2014; 40: 51-5.
Leftheriotis G, Kauffenstein G, Hamel JF, Abraham P, Le Saux O, Willoteaux S, Henrion D, Martin L. The contribution of arterial calcification to peripheral arterial disease in pseudoxanthoma elasticum. PLoS One. 2014; 9: e96003.
Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, Schurgers L, Uitto J, Hakonarson H, Deardorff MA, Levine MA.Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum. J Invest Dermatol. 2014; 134: 658-65.
Li Q, Chou DW, Price TP, Sundberg JP, Uitto J. Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice. Lab Invest. 2014; 94: 623-32.
Li Q, Guo H, Chou DW, Berndt A, Sundberg JP, Uitto J. Mouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypes. PLoS One. 2014; 9: e89268.
Li Q, Jiang Q, Uitto J. Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification. Matrix Biol. 2014; 33:23-8.
Li Q, Price TP, Sundberg JP, Uitto J. Juxta-articular joint-capsule mineralization in CD73 deficient mice: similarities to patients with NT5E mutations. Cell Cycle. 2014; 13: 2609-15.
Li Y, Cui Y, Zhao H, Wang C, Liu X, Han J. Pseudoxanthoma elasticum: A review of 86 cases in China. Intractable Rare Dis Res. 2014; 3:75-8.
Marques GF, Nakandakari S, Coelho AP, Nigro MH, Sabage J. Pseudoxanthoma elasticum: report of two cases. An Bras Dermatol. 2014; 89: 812-5.
Miglionico R, Armentano MF, Carmosino M, Salvia AM, Cuviello F, Bisaccia F, Ostuni A. Dysregulation of gene expression in ABCC6 knockdown HepG2 cells. Cell Mol Biol Lett. 2014; 19: 517-2.
Mine Y, Iwanaga A, Ikehara S, Koike Y, Takamura N, Utani A. Pseudoxanthoma elasticum-like skin lesions with congenital erythropoietic porphyria. Eur J Dermatol. 2014; 24:401-2.
Moreno Quintana J, Narváez de Linares A, López Coronado A. Pseudoxanthoma elasticum and ischemic heart disease. Med Intensiva. 2014; 38: 327-8.
Musumeci MB, Semprini L, Casenghi M, Montesanti D, Mastromarino V, Socciarelli F, Volpe M, Autore C. Restrictive cardiomyopathy and pseudoxanthoma elasticum skin lesions. J Cardiovasc Med (Hagerstown). 20
Neri I, Gurioli C, Raggi MA, Saracino MA, Morganti E, Bugamelli F, de Ponti F, Vaccari S, Patrizi A, Balestri R. Detection of D-penicillamine in skin lesions in a case of dermal elastosis after a previous long-term treatment for Wilson’s disease. J Eur Acad Dermatol Venereol. 2015; 29: 383-6.
Oiso N, Kato M, Kawada A. Fibroelastolytic papulosis in an elderly woman with a 30-year history: overlapping between pseudoxanthoma elasticum-like papillary dermal elastolysis and white fibrous papulosis of the neck. Eur J Dermatol. 2014; 24: 688-9.
Orssaud C, Roche O, Dufier JL, Germain DP. Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients. Ophthalmic Genet. 2015; 36: 327-32
Pomozi V, Brampton C, Fülöp K, Chen LH, Apana A, Li Q, Uitto J, Le Saux O, Váradi A. Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins. J Invest Dermatol. 2014; 134: 946-53.
Saffra N, Reinherz B. Systemic bevacizumab for simultaneous treatment of cancer and choroidal neovascularisation. BMJ Case Rep. 2014; 2014 pii: bcr2014204500.
Salles AG, Remigio AF, Moraes LB, Varoni AC, Gemperli R, Ferreira MC. Pseudoxanthoma Elasticum Treatment with Fractional CO2 Laser. Plast Reconstr Surg Glob Open. 2014; 2:e219.
Savastano MC, Minnella AM, Zinzanella G, Falsini B, Caporossi A. Successful long-term management of choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum: a case report. J Med Case Rep. 2014; 8:458.
Tanioka M, Utani A, Tamura H, Yoshimura N, Kashiwagi N, Kondo E, Konishi I, Miyachi Y. Calcification of the placenta in a woman with pseudoxanthoma elasticum with a mutation of the ABCC6 gene. J Dermatol. 2014; 41: 189-91.
Uitto J, Jiang Q, Váradi A, Bercovitch LG, Terry SF. Pseudoxanthoma elasticum: diagnostic features, classification, and treatment options. Expert Opin Orphan Drugs. 2014; 2: 567-577.
Utani A. Current state and prospect of pseudoxanthoma elasticum (PXE). Nihon Rinsho. 2014; 72: 2073-7.
Van der Veken B, Roth L, De Meyer GR, Martinet W. Development of atherosclerotic plaques in a mouse model of pseudoxanthoma elasticum. Acta Cardiol. 2014; 69:687-92.
Wat H, Wu DC, Mahmood MN, Brassard A. Primary systemic (amyloid light-chain) amyloidosis masquerading as pseudoxanthoma elasticum: recognizing a novel clinicopathological pattern. JAMA Dermatol. 2014; 150:1091-4.
Watzka M, Geisen C, Scheer M, Wieland R, Wiegering V, Dörner T, Laws HJ, Gümrük F, Hanalioglu S, Unal S, Albayrak D, Oldenburg J. Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations. Thromb Res. 2014; 134: 856-6
Xue P, Crum CM, Thibodeau PH. Regulation of ABCC6 trafficking and stability by a conserved C-terminal PDZ-like sequence. PLoS One. 2014; 9: e97360.
Yilmaz I, Ozkaya A, Alkin Z, Yazici AT. Intravitreal ranibizumab for bilateral choroidal neovascularisation in a patient with angioid streaks. BMJ Case Rep. 2014; 2014 pii: bcr2014204848.
Zhang Z, Liu X. Pseudoxanthoma elasticum. Med J Aust. 2014; 201:544.

2013

Akoglu G, Li Q, Gokoz O, Gazyagci AS, Uitto J. Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum – presymptomatic testing and lack of carrier phenotypes. Int J Dermatol. 2013 in press
Arányi T, Bacquet C, de Boussac H, Ratajewski M, Pomozi V, Fülöp K, Brampton CN, Pulaski L, Le Saux O, Váradi A.Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations. Front Genet. 2013; 4: 27.
Berndt A, Li Q, Potter CS, Liang Y, Silva KA, Kennedy V, Uitto J, Sundberg JP. A single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum. J Invest Dermatol. 2013; 133:833-6.
Besozzi G, Ferrara A, Epifani E, Intini D, Apruzzese M, Provenzano A, Vetrugno M. Acute stroke after intravitreal bevacizumab to treat choroidal neovascularization due to angioid streaks in pseudoxanthoma elasticum : a severe systemic adverse event after an off-label procedure. Int Ophthalmol. 2013;33:181-3.
Boraldi F, Annovi G, Vermeer C, Schurgers LJ, Trenti T, Tiozzo R, Guerra D, Quaglino D. Matrix gla protein and alkaline phosphatase are differently modulated in human dermal fibroblasts from PXE patients and controls. J Invest Dermatol. 2013; 133: 946-54.
Boraldi F, Garcia-Fernandez M, Paolinelli-Devincenzi C, Annovi G, Schurgers L, Vermeer C, Cianciulli P, Ronchetti I, Quaglino D. Ectopic calcification in β-thalassemia patients is associated with increased oxidative stress and lower MGP carboxylation. Biochim Biophys Acta. 2013; 1832: 2077-84.
Braun SA, Finis D, Helbig D. Pseudoxanthoma elasticum. More than a skin problem. Hautarzt. 2013; 64: 222, 224-5.
Campens L, Vanakker OM, Trachet B, Segers P, Leroy BP, De Zaeytijd J, Voet D, De Paepe A, De Backer T, De Backer J.Characterization of cardiovascular involvement in pseudoxanthoma elasticum families. Arterioscler Thromb Vasc Biol. 2013; 33: 2646-52.
Caranci F, Briganti F, Cirillo L, Leonardi M, Muto M. Epidemiology and genetics of intracranial aneurysms. Eur J Radiol. 2013; 82: 1598-605.
Elhatimi A, Elbakkal A, Iguermia S, Meziane M, Mikou O, Mernissi FZ. Yellow papules: the iceberg of systemic elastorrhexis. Pan Afr Med J. 2013; 14: 106.
Faria CS, Li Q, Guo H, Uitto J, Takeno SS, de Arruda Cardoso Smith M, Freire-Maia DV. Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum. Acta Derm Venereol. 2013; 93: 739-40.
Fernandez KH, Liu V, Swick BL. Nonuremic calciphylaxis associated with histologic changes of pseudoxanthoma elasticum. Am J Dermatopathol. 2013; 35: 106-8.
Ferré M, Reynier P, Chevrollier A, Prunier-Mirebeau D, Lefthériotis G, Henrion D, Bonneau D, Procaccio V, Martin L. Is ABCC6 a genuine mitochondrial protein? BMC Res Notes. 2013 23; 6:427.
García-López A, González-Castaño C. Subretinal neovascular membrane in angioid streaks treated with intravitreal bevacizumab. Arch Soc Esp Oftalmol. 2013; S0365-6691(12)00542-4.
Gliem M, Zaeytijd JD, Finger RP, Holz FG, Leroy BP, Charbel Issa P. An update on the ocular phenotype in patients with pseudoxanthoma elasticum. Front Genet. 2013; 4: 14.
Goldman DR, Lee GD, Shah CP, Heier JS. Initial presentation of pseudoxanthoma elasticum. JAMA Ophthalmol. 2013; 131: 1352.
Guérin-Moreau M, Leftheriotis G, Le Corre Y, Etienne M, Amode R, Hamel JF, Croué A, Le Saux O, Machet L, Martin L. High-frequency (20-50 MHz) ultrasonography of pseudoxanthoma elasticum skin lesions. Br J Dermatol. 2013; 169: 1233-9.
Guo H, Li Q, Chou DW, Uitto J. Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6⁻/⁻). J Mol Med (Berl). 2013; 91: 1177-84.
Hayashi S, Utani A, Iwanaga A, Yagi Y, Morisaki H, Morisaki T, Hamasaki Y, Hatamochi A. Co-existence of mutations in the FBN1 gene and the ABCC6 gene in a patient with Marfan syndrome associated with pseudoxanthoma elasticum. J Dermatol Sci. 2013; 72: 325-7.
Hendig D, Knabbe C, Götting C. New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders byidentifying genetic interactions and modifiers. Front Genet. 2013; 4:114.
Ishak R, Abbas O. Penicillamine revisited: historic overview and review of the clinical uses and cutaneous adverse effects. Am J Clin Dermatol. 2013; 14: 223-33.
Ito T, Fujita Y, Nomura T, Abe R, Shimizu H. Dermoscopy of pseudoxanthoma elasticum-like papillary dermal elastolysis. J Am Acad Dermatol. 2013; 69: e202-3.
Jansen RS, Küçükosmanoglu A, de Haas M, Sapthu S, Otero JA, Hegman IE, Bergen AA, Gorgels TG, Borst P, van de Wetering K. ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release. Proc Natl Acad Sci U S A. 2013;110:20206-11.
Kasemsarn P, Boonchai W. Pseudoxanthoma elasticum-like lesions in beta-thalassemia/hemoglobin E patient: a case report. J Dermatol. 2013; 40: 409-10.
Ko JH, Shih YC, Huang YH, Yang CH. Pseudoxanthoma elasticum. Lancet. 2013; 381: 565.
Kubota M, Hayashi T, Arai K, Tsuneoka H. Choroidal neovascularization after blunt ocular trauma in angioid streaks. Clin Ophthalmol. 2013; 7:1347-51.
Kupetsky EA, Rincon F, Uitto J. Rate of change of carotid intima-media thickness with magnesium administration in Abcc6⁻/⁻ mice. Clin Transl Sci. 2013; 6: 485-6.
Lefthériotis G, Omarjee L, Le Saux O, Henrion D, Abraham P, Prunier F, Willoteaux S, Martin L. The vascular phenotype in Pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification. Front Genet. 2013; 4: 4.
Li Q, Baker J, Kowalczyk J, Jiang Q, Uitto J, Schachner L. Paediatric pseudoxanthoma elasticum with cardiovascular involvement. Br J Dermatol. 2013; 169: 1148-51.
Li Q, Guo H, Chou DW, Harrington DJ, Schurgers LJ, Terry SF, Uitto J. Warfarin accelerates ectopic mineralization in Abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum. Am J Pathol. 2013; 182: 1139-50.
Li Q, Uitto J. Mineralization/anti-mineralization networks in the skin and vascular connective tissues. Am J Pathol. 2013; 183: 10-8.
Luft FC. Pseudoxanthoma elasticum and statin prophylaxis. J Mol Med (Berl). 2013; 91:1129-30.
Marchand A, Levaltier X, Croué A, Arbeille B, Ifrah N, Martin L. Cutaneous amyloid elastosis revealing multiple myeloma with systemic amyloidosis. Acta Derm Venereol. 2013; 93: 204-5.
Matsuo FS, Berbert AL, Mantese SA, Loyola AM, Cardoso SV, de Faria PR. Pseudoxanthoma elasticum of the skin with involvement of the oral cavity. Case Rep Dent. 2013; 2013:490785.
Moreno Quintana J, Narváez de Linares A, López Coronado A. Pseudoxanthoma elasticum and ischemic heart disease. Med Intensiva. 2013: S0210-5691(13)00048-X.
Murata T, Honda T, Miyachi Y, Kabashima K. Morphological character of pseudoxanthoma elasticum observed by multiphoton microscopy. J Dermatol Sci. 2013; 72: 199-201.
Nadeau C, Kuperstein AS, Mupparapu M, Stoopler ET. Temporomandibular disorder in a patient with pseudoxanthoma elasticum: a case report and review. Spec Care Dentist. 2013; 33: 255-9.
Panettiere P, Marchetti L, Accorsi D. Arms lift in a case of pseudoxanthoma elasticum. Case Rep Dermatol Med. 2013; 2013:870605.
Park SH, Huh GY, Piao H, Kim SH, Hwang JJ. A forensic autopsy case of death in a patient with pseudoxanthoma elasticum–dermatopathologic findings as a clue of the cause of death. J Forensic Leg Med. 2013; 20: 543-5.
Pomozi V, Le Saux O, Brampton C, Apana A, Iliás A, Szeri F, Martin L, Monostory K, Paku S, Sarkadi B, Szakács G, Váradi A. ABCC6 is a basolateral plasma membrane protein. Circ Res. 2013; 112: e148-51.
Pranteda G, Muscianese M, Marmo G, Fidanza L, Pranteda G, Tamburi F, Bottoni U, Nisticò S. Role of steroid therapy in pseudoxanthoma elasticum-like papillary dermal elastolysis. Int J Immunopathol Pharmacol. 2013; 26:1013-8.
Prunier F, Terrien G, Le Corre Y, Apana AL, Bière L, Kauffenstein G, Furber A, Bergen AA, Gorgels TG, Le Saux O, Leftheriotis G, Martin L. Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model. PLoS One. 2013; 8: e68700.
Ronchetti I, Boraldi F, Annovi G, Cianciulli P, Quaglino D. Fibroblast involvement in soft connective tissue calcification. Front Genet. 2013; 4: 22.
Schoenberger SD, Agarwal A. Geographic chorioretinal atrophy in pseudoxanthoma elasticum. Am J Ophthalmol. 2013; 156: 715-23.
Thrash B, Patel M, Shah KR, Boland CR, Menter A. Cutaneous manifestations of gastrointestinal disease: part II. J Am Acad Dermatol. 2013; 68: 211.e1-33; quiz 244-6.
Tong PL, Qin J, Cooper CL, Lowe PM, Murrell DF, Kossard S, Ng LG, Roediger B, Weninger W, Haass NK. A quantitative approach to histopathological dissection of elastin-related disorders using multiphoton microscopy. Br J Dermatol. 2013; 169: 869-79.
Trelohan A, Milea D, Martin L, Leftheriotis G, Ebran JM. Myopia in pseudoxanthoma elasticum. J Fr Ophtalmol. 2013; 36: 414-7.
Uitto J, Váradi A, Bercovitch L, Terry PF, Terry SF. Pseudoxanthoma elasticum: progress in research toward treatment: summary of the 2012 PXE international research meeting. J Invest Dermatol. 2013; 133:1444-9.
Vanakker OM, Hosen MJ, Paepe AD. The ABCC6 transporter: what lessons can be learnt from other ATP-binding cassette transporters? Front Genet. 2013; 4: 203.
Vanakker OM. Coordinated orphan disease research: yes, we can! Front Genet. 2013; 4: 207.
Zhou Y, Jiang Q, Takahagi S, Shao C, Uitto J. Premature termination codon read-through in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum. J Invest Dermatol. 2013; 133: 2672-7.
Zimmo L, Rudarakanchana N, Thompson M, Hamady MS, Cheshire NJ, Bicknell CD. Renal artery aneurysm formation secondary to pseudoxanthoma elasticum. J Vasc Surg. 2013; 57: 842-4.

2012

AA. Diagnostic criteria of Pseudoxanthoma elasticum in 2012. Nihon Ganka Gakkai Zasshi. 2012; 116: 1156-7.
Abdullah L, Abbas O. Dermacase: Can you identify this condition? Pseudoxanthoma elasticum–like papillary dermal elastolysis. Can Fam Physician. 2012; 58: 765, 768.
Benitez-Herreros J, Camara-Gonzalez C, Lopez-Guajardo L, Beckford-Torngren C, Pareja-Esteban J. Choroidal neovascularization secondary to angioid streaks: A familial case report. Arch Soc Esp Oftalmol. 2012: S0365-6691(12)00536-9.
Budania A, De D, Saikia UN, Kanwar AJ, Mahajan R, Yadav S. Periumbilical perforating pseudoxanthoma elasticum–an acquired perforating disorder. Int J Dermatol. 2012; 51: 439-41.
Camacho D, Machan S, Pielasinski U, Revelles JM, del Carmen Fariña M, Santonja C, Requena L. Familial acral localized late-onset focal dermal elastosis. Am J Dermatopathol. 2012; 34: 310-4.
Dannepond C, Martin L, Kerdraon R, Croué A, Lebidre E, Estève E. Atypical eruptive collagenoma: two cases. Ann Dermatol Venereol. 2012; 139: 209-15.
De Benedetto U, Battaglia Parodi M, Knutsson KA, Librando A, Bandello F, Lanzetta P, Iacono P. Intravitreal bevacizumab for extrafoveal choroidal neovascularization after ocular trauma. J Ocul Pharmacol Ther. 2012; 28: 550-2.
Del Zotto E, Ritelli M, Pezzini A, Drera B, Gamba M, Giossi A, Volonghi I, Costa P, Barlati S, Gasparotti R, Padovani A, Colombi M. Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile: case report. Clin Neurol Neurosurg. 2012; 114: 758-61.
Delyfer MN, Rougier MB, Korobelnik JF. Optic disc drusen and angioid streaks in pseudoxanthoma elasticum. J Fr Ophtalmol. 2012; 35: 467-8.
Ellabban AA, Hangai M, Yamashiro K, Nakagawa S, Tsujikawa A, Yoshimura N. Tomographic fundus features in pseudoxanthoma elasticum: comparison with neovascular age-related macular degeneration in Japanese patients. Eye (Lond). 2012; 26: 1086-94.
González-Gómez A, Morillo MJ, González-Escobar AB, García-Campos JM. Choroidal neovascularization secondary to pseudoxanthoma elasticum treated with ranibizumab: a report of 2 cases. Arch Soc Esp Oftalmol. 2012;87:153-6.
Gorgels TG, Teeling P, Meeldijk JD, Nillesen ST, van der Wal AC, van Kuppevelt TH, Bergen AA. Abcc6 deficiency in the mouse leads to calcification of collagen fibers in Bruch’s membrane. Exp Eye Res. 2012; 104: 59-64.
Hosen MJ, Lamoen A, De Paepe A, Vanakker OM. Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues. Scientifica (Cairo). 2012; 2012:598262.
Jiang Q, Takahagi S, Uitto J. Administration of bone marrow derived mesenchymal stem cells into the liver: potential to rescue pseudoxanthoma elasticum in a mouse model (Abcc6-/-). J Biomed Biotechnol. 2012: 818937.
Jiang Q, Uitto J. Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-) ). Exp Dermatol. 2012; 21:694-9.
Kavukcuoglu NB, Li Q, Pleshko N, Uitto J. Connective tissue mineralization in Abcc6-/- mice, a model for pseudoxanthoma elasticum. Matrix Biol. 2012; 31: 246-52.
Kumar P, Sivasubramanian A, Vadivel S, Krishnaswamy M. Pseudoxanthoma elasticum with periumbilical perforation in a nullipara. Indian J Dermatol. 2012; 57: 210-2.
Kupetsky-Rincon EA, Li Q, Uitto J. Magnesium reduces carotid intima-media thickness in a mouse model of pseudoxanthoma elasticum: a novel treatment biomarker. Clin Transl Sci. 2012; 5: 259-64.
Lamb CM, Johns RA, Gallagher PJ, Odurny A, Shearman CP. A case of pseudo-xanthoma elasticum presenting with ischaemic claudication. Eur J Vasc Endovasc Surg. 2012; 43: 478-9.
Le Corre Y, Le Saux O, Froeliger F, Libouban H, Kauffenstein G, Willoteaux S, Leftheriotis G, Martin L. Quantification of the calcification phenotype of Abcc6-deficient mice with microcomputed tomography. Am J Pathol. 2012; 180: 2208-13.
Le Saux O, Martin L, Aherrahrou Z, Leftheriotis G, Váradi A, Brampton CN. The molecular and physiological roles of ABCC6: more than meets the eye. Front Genet. 2012; 3: 289.
Li Q, Berndt A, Guo H, Sundberg JP, Uitto J. A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse. Am J Pathol. 2012;181:1190-6.
Li Q, Guo H, Matsui H, Honda H, Inaba T, Sundberg JP, Sprecher E, Uitto J. Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis. Exp Dermatol. 2012; 21: 554-6.
Li Q, Schumacher W, Jablonski D, Siegel D, Uitto J. Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. Br J Dermatol. 2012; 166: 1107-11.
Li Q, Uitto J. Heritable ectopic mineralization disorders: the paradigm of pseudoxanthoma elasticum. J Invest Dermatol. 2012; 132: E15-9.
Maalej A, Ouederni M, Khallouli A, Gabsi S. Angioid streaks complicated by choroidal neovascularization secondary to pseudoxanthoma elasticum: diagnosis and treatment. Case report. J Fr Ophtalmol. 2012; 35: 803-8.
Martin LJ, Lau E, Singh H, Vergnes L, Tarling EJ, Mehrabian M, Mungrue I, Xiao S, Shih D, Castellani L, Ping P, Reue K, Stefani E, Drake TA, Bostrom K, Lusis AJ. ABCC6 localizes to the mitochondria-associated membrane. Circ Res. 2012;111: 516-20.
Marwah M, Godse K, Patil S, Nadkarni N, Gautam M. Surgical correction of pseudoxanthoma elasticum. J Cutan Aesthet Surg. 2012; 5: 212-3.
Matonti F, Conrath J. Angioid streaks. J Fr Ophtalmol. 2012; 35: 838-45.
Michigami M, Kudo H, Iwanaga A, Utani A. Absence of cutaneous symptoms of pseudoxanthoma elasticum at the immobile joint of a stroke patient. Eur J Dermatol. 2012; 22:403-4.
Mukkamala SK, Yannuzzi LA, Agarwal A. Diagnostic and therapeutic challenges. Retina. 2012; 32: 2171-4.
Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet. 2012; 90: 25-39.
Nitschke Y, Rutsch F. Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin. Front Genet. 2012; 3: 302.
Nitschke Y, Rutsch F. Genetics in arterial calcification: lessons learned from rare diseases. Trends Cardiovasc Med. 2012; 22: 145-9.
Padilla-España L, Fernández-Morano T, Del Boz J, Fúnez R. Pseudoxanthoma elasticum in the differential diagnosis of axillary calcifications on mammography. Actas Dermosifiliogr. 2012; 103: 647-9.
Ratajewski M, de Boussac H, Sachrajda I, Bacquet C, Kovács T, Váradi A, Pulaski L, Arányi T. ABCC6 expression is regulated by CCAAT/enhancer-binding protein activating a primate-specific sequence located in the first intron of the gene. J Invest Dermatol. 2012; 132: 2709-17.
Revelles JM, Machan S, Pielasinski U, Camacho D, Vallés L, Santonja C, Kutzner H, Requena L. Pseudoxanthoma elasticum-like papillary dermal elastolysis: immunohistochemical study using elastic fiber cross-reactivity with an antibody against amyloid P component. Am J Dermatopathol. 2012; 34: 637-43.
Rongioletti F, Izakovic J, Romanelli P, Lanuti E, Miteva M. Pseudoxanthoma elasticum-like papillary dermal elastolysis: a large case series with clinicopathological correlation. J Am Acad Dermatol. 2012; 67:128-35.
Sasai H, Sakakura K, Wada H, Sugawara Y, Ako J, Momomura S. Stiff coronary stenosis in a young female with pseudoxanthoma elasticum. JACC Cardiovasc Interv. 2012; 5: 112-3.
Siskos D, Giannakakis S, Makris S, Pirgakis K, Psyllas A, Maltezos C. Case report of a patient with iliac occlusive disease due to pseudoxantoma elasticum and review of the bibliography. Ann Vasc Surg. 2012; 26: 278.e11-4.
Skondra D, Papakostas TD, Hunter R, Vavvas DG. Near infrared autofluorescence imaging of retinal diseases. Semin Ophthalmol. 2012; 27: 202-8.
Tan MH, Vanakker OM, Tran HV, Robson AG, Lai-Cheong JE, Groves R, Holder GE, Moore AT. Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene. Eye (Lond). 2012; 26:753-5.
Tian S, Chen Z. Late-onset focal dermal elastosis. Eur J Dermatol. 2012; 22: 399-400.
van Varik BJ, Rennenberg RJ, Reutelingsperger CP, Kroon AA, de Leeuw PW, Schurgers LJ. Mechanisms of arterial remodeling: lessons from genetic diseases. Front Genet. 2012; 3: 290.
Velázquez-Cayón RT, Torres-Lagares D, Yáñez-Vico RM, Cárabe-Fernández A, Benítez-Rodríguez J, Serrera-Figallo MA, Gutiérrez-Pérez JL. Dental impactions related to pseudoxanthoma elasticum. J Oral Maxillofac Surg. 2012; 70: e214-6.
Wang AR, Fonder MA, Telang GH, Bercovitch L, Robinson-Bostom L. Late-onset focal dermal elastosis: an uncommon mimicker of pseudoxanthoma elasticum. J Cutan Pathol. 2012; 39: 957-61.
Wang AR, Robinson-Bostom L. Papillary dermal elastosis. Dermatol Online J. 2012; 18: 11.
Zebardast N, Adelman RA. Intravitreal ranibizumab for treatment of choroidal neovascularization secondary to angioid streaks in pseudoxanthoma elasticum: five-year follow-up. Semin Ophthalmol. 2012; 27: 61-4.
Zuily S, Angioi K, Fauret AL, Golmard L, Saadi L, Huttin O, Anxionnat R, Evon P, Marie PY, Jeunemaitre X, Wahl D. Severe and diffuse arterial lesions in a patient with pseudoxanthoma elasticum. J Am Coll Cardiol. 2012; 59: 1991.

2011

Arányi T, Fülöp K, Symmons O, Pomozi V, Váradi A. Predictable difficulty or difficulty to predict. Protein Sci. 2011;20:1-3; author reply 4-5.
Babu RS, Nair IK, Suresh MK, Dalus D. Gronblad Strandberg syndrome with vertibrobasilar dolichoectasia. J Assoc Physicians India. 2011;59:54-7.
Bagher Zadeh V, Najem N, El-Sayed Hanafy M. Pseudoxanthoma elasticum-like papillary dermal elastolysis. Acta Dermatovenerol Alp Panonica Adriat. 2011;20:35-8.
Bercovitch L, Martin L, Chassaing N, Hefferon TW, Bessis D, Vanakker O, Terry SF. Acquired pseudoxanthoma elasticum presenting after liver transplantation. J Am Acad Dermatol. 2011;64:873-8.
Boccaletti VP, Ricci R, De Panfilis G. Unknown: Papules on the knees. lastosis perforans serpiginosa (EPS). Dermatol Online J. 2011;17:12.
Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. Ophthalmology. 2011;118:160-167.
Borgna-Pignatti C, Gamberini MR. Complications of thalassemia major and their treatment. Expert Rev Hematol. 2011;4:353-66.
Brampton C, Yamaguchi Y, Vanakker O, Van Laer L, Chen LH, Thakore M, De Paepe , Pomozi V, Szabó PT, Martin L, Váradi A, Le Saux O. Vitamin K does not prevent oft tissue mineralization in a mouse model of pseudoxanthoma elasticum. Cell ycle. 2011;10:1810-20.
Chen ZS, Tiwari AK. Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases. FEBS J. 2011;278:3226-45.
Clanet M, Chantraine F, Dewandre PY, Peeters P, Foidart JM, Brichant JF. Pseudoxanthoma elasticum and obstetric epidural analgesia: Report of a case. Ann Fr Anesth Reanim. 2011;30:685-7.
Combrinck M, Gilbert JD, Byard RW. Pseudoxanthoma Elasticum and Sudden Death. J Forensic Sci. 2011;56:418-22
Finger RP, Charbel Issa P, Hendig D, Scholl HP, Holz FG. Monthly Ranibizumab for Choroidal Neovascularizations Secondary to Angioid Streaks in Pseudoxanthoma Elasticum: A One-Year Prospective Study. Am J Ophthalmol. 2011; 152:695-703.
Finger RP, Charbel Issa P, Schmitz-Valckenberg S, Holz FG, Scholl HN. Long-term effectiveness of intravitreal bevacizumab for choroidal neovascularization secondary to angioid streaks in pseudoxanthoma elasticum. Retina. 2011;31:1268-78.
Finger RP, Hendig D, Götting C, Issa PC, Zarbock R, Scholl HN, Holz FG. Pseudoxanthoma elasticum–case report]. MMW Fortschr Med. 2011;153:38-9.
Frank J, Poblete-Gutiérrez P. Hereditary metabolic diseases with cutaneous manifestations : An update. Hautarzt. 2011;62:98-106.
Gencoglan G, Ceylan C, Kazandi AC. White fibrous papulosis of the neck. Cutan Ocul Toxicol. 2011;30:69-71.
Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I. Pseudoxanthoma elasticum, ocular manifestations, complications and treatment. Clin Exp Optom. 2011;94:169-80.
Gorgels TG, Waarsing JH, Herfs M, Versteeg D, Schoensiegel F, Sato T, Schlingemann RO, Ivandic B, Vermeer C, Schurgers LJ, Bergen AA. Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum. J Mol Med (Berl). 2011; 89:1125-35.
Hornstrup LS, Tybjærg-Hansen A, Haase CL, Nordestgaard BG, Sillesen H, Grande P, Frikke-Schmidt R. Heterozygosity for R1141X in ABCC6 and Risk of Ischemic Vascular Disease. Circ Cardiovasc Genet. 2011; 4:534-41.
Jiang Q, Li Q, Grand-Pierre AE, Schurgers LJ, Uitto J. Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum. Cell Cycle. 2011;10:701-7.
Kaimbo DK, Mutosh A, Leys A, Parys-van Ginderdeuren R, Bergen AA. Pseudoxanthoma elasticum: clinical, histologic, and genetic studies–a report of two sisters. Skinmed. 2011;9:119-21.
Keppler D. Multidrug Resistance Proteins (MRPs, ABCCs): Importance for Pathophysiology and Drug Therapy. Handb Exp Pharmacol. 2011;201:299-323.
Khatu SS, Dhurat RS, Nayak CS, Pereira RR, Kagne RB. Penicillamine-induced elastosis perforans serpiginosa with abnormal “lumpy-bumpy” elastic fibers in lesional and non-lesional skin. Indian J Dermatol Venereol Leprol. 2011;77:55-8.
Laktaoui A, Bouia Y, Louaya S, Zrara I, Termidi A, Fiqhi A, Zerrouk R, Kriet M. Semiology of chorioretinal lesions in association with thalassemia-pseudoxanthoma elasticum. J Fr Ophtalmol. 2011;34:275-8.
LaRusso J, Li Q, Uitto J. Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders – can diet help? J Dtsch Dermatol Ges. 2011;9:586-93.
Le Saux O, Fülöp K, Yamaguchi Y, Iliás A, Szabó Z, Brampton CN, Pomozi V,Huszár K, Arányi T, Váradi A. Expression and In Vivo Rescue of Human ABCC6 Disease-Causing Mutants in Mouse Liver. PLoS One. 2011;6:e24738.
Lefthériotis G, Abraham P, Le Corre Y, Le Saux O, Henrion D, Ducluzeau PH, Prunier F, Martin L. Relationship between ankle brachial index and arterial remodeling in pseudoxanthoma elasticum. J Vasc Surg. 2011, 54:1390-4
Lefthériotis G, Vanakker O, Le Saux O, Martin L. Reply to the article of C. Markello et al. entitled “Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum”. Mol Genet Metab. 2011;103:199-200.
Li Q, Sadowski S, Uitto J. Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene. J Invest Dermatol. 201;131:782-5.
Li Q, Uitto J. Expression of the Abca-subfamily of genes in Abcc6-/-mice–upregulation of Abca4. Exp Dermatol. 2011;20:452-4.
López V, Revert A, Santonja N, Jordá E. Pseudoxantoma elasticum-like dermal lastolysis: a case report. Dermatol Online J. 2011;17:13.
Mahajan VK, Sharma NL. Pseudoxanthoma elasticum. Indian Pediatr. 2011;48:149-50.
Markello TC, Pak LK, St Hilaire C, Dorward H, Ziegler SG, Chen MY, Chaganti K, Nussbaum RL, Boehm M, Gahl WA. Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab. 2011;103:44-50.
Martin L, Douet V, VanWart CM, Heller MB, Le Saux O. A mouse model of β-thalassemia shows a liver-specific down-regulation of Abcc6 expression. Am J Pathol. 2011;178:774-83.
Morillo MJ, Mora J, Soler A, García-Campos JM, García-Fernández I, Sánchez P, Valdivieso P. Retinal autofluorescence imaging in patients with pseudoxanthoma elasticum. Arch Soc Esp Oftalmol. 2011;86:8-15.
Prada-García C, Ruiz-González I, Delgado-Vicente S. Non-follicular papules with a cobblestone appearance. Actas Dermosifiliogr. 2011;102:59-60.
Pugashetti R, Shinkai K, Ruben BS, Grossman ME, Maldonado J, Fox LP. Calcium may preferentially deposit in areas of elastic tissue damage. J Am Acad Dermatol. 2011;64:296-301.
Quaglino D., Boraldi F., Annovi G., Ronchetti I. The multifaceted complexity of genetic diseases: a lesson from pseudoxanthoma elasticum. In: “Advances in the Study of Genetic Disorders”, edited by K. Ikehara, Intech Publisher,ISBN 978-953-307-305-7, in press
Rossiter-Thornton M, Iliopoulos J, Manganas C. Evaluation of Arterial Grafts Prior to Coronary Bypass in Pseudoxanthoma Elasticum. Heart Lung Circ. 2011, 20:726-7.
Rutsch F, Nitschke Y, Terkeltaub R. Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel. Circ Res. 2011;109:578-92.
Song YC, Oh BH, Ko JH, Kim JY, Hwang YJ, Lee YW, Choe YB, Ahn KJ, Song KY. A case of fibroelastolytic papulosis on the neck of a young man. Ann Dermatol. 2011;23:193-7.
Szabó Z, Váradi A, Li Q, Uitto J. ABCC6 does not transport adenosine – Relevance to pathomechanism of pseudoxanthoma elasticum. Mol Genet Metab. 2011, 104:421
Torchia D, Romanelli P, Schachner LA. Disseminated superficial actinic orokeratosis associated with pseudoxanthoma elasticum. Eur J Dermatol. 2011;21:600-1.
Trélohan A, Martin L, Milea D, Bonicel P, Ebran JM. Retinal lesions in pseudoxanthoma elasticum: 51 patients. J Fr Ophtalmol. 2011;34:456-67.
Uitto J, Bercovitch L, Terry SF, Terry PF. Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting. Am J Med Genet A. 2011;155A:1517-26.
Váradi A, Szabó Z, Pomozi V, de Boussac H, Fülöp K, Arányi T. ABCC6 as a target in pseudoxanthoma elasticum. Curr Drug Targets. 2011;12:671-82.
Vasseur M, Carsin-Nicol B, Ebran JM, Willoteaux S, Martin L, Lefthériotis G, Angers PXE Consultation Center group. Carotid rete mirabile and pseudoxanthoma elasticum: an accidental association? Eur J Vasc Endovasc Surg. 2011;42:292-4.
Yoo JY, Blum RR, Singer GK, Stern DK, Emanuel PO, Fuchs W, Phelps RG, Terry SF, Lebwohl MG. A randomized controlled trial of oral phosphate binders in the treatment of pseudoxanthoma elasticum. J Am Acad Dermatol. 2011;65:341-8.
Zweifel SA, Imamura Y, Freund KB, Spaide RF. Multimodal fundus imaging of pseudoxanthoma elasticum. Retina. 2011;31:482-91.

2010

Abbas O, Ghosn S, Kurban M, Salman S. Multiple asymptomatic skin-coloured papules over the neck and antecubital areas. Pseudoxanthoma elasticum (PXE). Clin Exp Dermatol. 2010;35:e50-1.
Alves R, Ferreira L, Vale E, Bordalo O. Pseudoxanthoma elasticum papillary dermal elastolysis: a case report. Dermatol Res Pract. 2010;2010 pii: 352724.
Ari Yaylali S, Erbil HH, Salar S, Karakurt Y. Optical coherence tomography findings in pseudoxanthoma elasticum. Eur J Ophthalmol. 2010;20:397-401.
Baglieri F, Scuderi G. Pseudoxanthoma elasticum: description of a late onset case. Indian J Dermatol Venereol Leprol. 2010;76:448.
Baillif-Gostoli S, Quaranta-El Maftouhi M, Mauget-Faÿsse M. Polypoidal choroidal vasculopathy in a patient with angioid streaks secondary to pseudoxanthoma elasticum. Graefes Arch Clin Exp Ophthalmol. 2010;248:1845-8.
Berk DR. Autosomal dominant transmission of pseudoxanthoma elasticum. Arch Dermatol. 2010;146:800-1.
Booij JC, Baas DC, Beisekeeva J, Gorgels TG, Bergen AA. The dynamic nature of Bruch’s membrane. Prog Retin Eye Res. 2010;29:1-18.
Bressan AL, Vasconcelos BN, Silva RS, Alves Mde F, Gripp AC. Periumbilical and periareolar perforating pseudoxanthoma elasticum. An Bras Dermatol. 2010;85:705-7.
Charbel Issa P, Finger RP, Götting C, Hendig D, Holz FG, Scholl HP. Centrifugal fundus abnormalities in pseudoxanthoma elasticum. Ophthalmology. 2010;117:1406-14.
Costrop LM, Vanakker OO, Van Laer L, Le Saux O, Martin L, Chassaing N, Guerra D, Pasquali-Ronchetti I, Coucke PJ, De Paepe A. Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region. J. Hum Genet. 2010;55:112-7.
Dalloz MA, Debs R, Bensa C, Alamowitch S. White matter lesions leading to the diagnosis of pseudoxanthoma elasticum. Rev Neurol (Paris). 2010;166:844-8.
de Boussac H, Ratajewski M, Sachrajda I, Köblös G, Tordai A, Pulaski L, Buday L, Váradi A, Arányi T. The ERK1/2-hepatocyte nuclear factor 4alpha axis regulates human ABCC6 gene expression in hepatocytes. J Biol Chem. 2010;285:22800-8.
De Zaeytijd J, Vanakker OM, Coucke PJ, De Paepe A, De Laey JJ, Leroy BP. Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum. Br J Ophthalmol. 2010;94:479-86.
Finger RP, Issa PC, Holz FG, Scholl HP. A case of diffuse fluorescein leakage not associated with a CNV in Pseudoxanthoma elasticum. Eye (Lond). 2010;24:1111-3.
Gambichler T. Mid-dermal elastolysis revisited. Arch Dermatol Res. 2010;302:85-93.
Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I. Pseudoxanthoma elasticum, ocular manifestations, complications and treatment. Clin Exp Optom. 2010; 94:169-80.
Gorgels TG, Waarsing JH, de Wolf A, ten Brink JB, Loves WJ, Bergen AA.Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum. J Mol Med. 2010;88:467-75.
Hassan S, Kaya B. Pseudoxanthoma elasticum-like syndrome in a patient with sickle cell anaemia. Br J Haematol. 2010;148:342.
Hovnanian A. Modifier genes in pseudoxanthoma elasticum: novel insights from the Ggcx mouse model. J Mol Med. 2010;88:149-53.
Jiang Q, Dibra F, Lee MD, Oldenburg R, Uitto J. Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-)). J Invest Dermatol. 2010;130:1288-96.
Jiang Q, Oldenburg R, Otsuru S, Grand-Pierre AE, Horwitz EM, Uitto J. Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum. Am J Pathol. 2010;176:1855-62.
Köblös G, Andrikovics H, Prohászka Z, Tordai A, Váradi A, Arányi T. The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease. Genet Test Mol Biomarkers. 2010;14:75-8.
Larusso J, Ringpfeil F, Uitto J. Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy. Clin Transl Sci. 2010;3:295-8.
Le Boulanger G, Labrèze C, Croué A, Schurgers LJ, Chassaing N, Wittkampf T, Rutsch F, Martin L. An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. Am J Med Genet A. 2010;152A:118-23.
Lee TK, Forooghian F, Cukras C, Wong WT, Chew EY, Meyerle CB. Complementary angiographic and autofluorescence findings in pseudoxanthoma elasticum. Int Ophthalmol. 2010;30:77-9.
Li Q, Sadowski S, Frank M, Chai C, Váradi A, Ho SY, Lou H, Dean M, Thisse C, Thisse B, Uitto J. The abcc6a gene expression is required for normal zebrafish development. J Invest Dermatol. 2010;130:2561-8.
Li Q, Sadowski S, Uitto J. Angioid Streaks in Pseudoxanthoma Elasticum: Role of the p.R1268Q Mutation in the ABCC6 Gene. J Invest Dermatol. 2010;131:782-5.
Li Q, Török L, Kocsis L, Uitto J. Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications. Br J Dermatol. 2010;163:641-3.
Li Q, Uitto J. The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background–a model for pseudoxanthoma elasticum. J Mol Med. 2010;88:173-81.
Liu YH, Di YM, Zhou ZW, Mo SL, Zhou SF. Multidrug resistance-associated proteins and implications in drug development. Clin Exp Pharmacol Physiol. 2010;37:115-20.
Matarasso SL, Dahlem MM. Hemochromatosis and bilateral yellow papules of the neck–quiz case. Diagnosis: Hemochromatosis with pseudoxanthoma elasticum (PXE). Arch Dermatol. 2010;146:81-6.
Myung JS, Bhatnagar P, Spaide RF, Klancnik JM Jr, Cooney MJ, Yannuzzi LA, Freund KB. Long-term outcomes of intravitreal antivascular endothelial growth factor therapy for the management of choroidal neovascularization in pseudoxanthoma elasticum. Retina. 2010;30:748-55.
Ostuni A, Miglionico R, Bisaccia F, Castiglione Morelli MA. Biochemical characterization and NMR study of the region E748-A785 of the human protein MRP6/ABCC6. Protein Pept Lett. 2010;17:861-6.
Pisciotta L, Tarugi P, Borrini C, Bellocchio A, Fresa R, Guerra D, Quaglino D, Ronchetti I, Calandra S, Bertolini S. Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors. Atherosclerosis. 2010;210:173-6.
Plomp AS, Toonstra J, Bergen AA, van Dijk MR, de Jong PT. Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings. Am J Med Genet A. 2010;152A:1049-58.
Querques G, Bux AV, Prascina F, Noci ND. Intravitreal avastin for choroidal neovascularization associated with stargardt-like retinal abnormalities in pseudoxanthoma elasticum. Middle East Afr J Ophthalmol. 2010;17:387-9.
Sabán-Ruiz J, Fabregate Fuente R, Sánchez-Largo Uceda E, Fabregate Fuente M. Pseudoxanthoma elasticum: case report with arterial stiffness evaluated by a research cardiovascular profiling system. Eur J Dermatol. 2010;20:785-7.
Uitto J, Li Q, Jiang Q. Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms. J Invest Dermatol. 2010;130:661-70.
Utani A, Tanioka M, Yamamoto Y, Taki R, Araki E, Tamura H, Miyachi Y.Relationship between the distribution of pseudoxanthoma elasticum skin and mucous membrane lesions and cardiovascular involvement. J Dermatol. 2010;37:130-6.
Vanakker OM, Martin L, Schurgers LJ, Quaglino D, Costrop L, Vermeer C, Pasquali-Ronchetti I, Coucke PJ, De Paepe A.Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome. Lab Invest. 2010;90:895-905.
Váradi A, Szabó Z, Pomozi V, de Boussac H, Fülöp K, Arányi T. ABCC6 as a target in Pseudoxanthoma Elasticum. Curr Drug Targets. 2010;12:671-82.
Verbraak FD. Antivascular endothelial growth factor treatment in pseudoxanthoma elasticum patients. Dev Ophthalmol. 2010;46:96-106.
Zarbock R, Hendig D, Szliska C, Kleesiek K, Götting C. Analysis of MMP2 promoter polymorphisms in patients with pseudoxanthoma elasticum. Clin Chim Acta. 2010;411:1487-90.
Zweifel SA, Imamura Y, Freund KB, Spaide RF. Multimodal fundus imaging of pseudoxanthoma elasticum. Retina. 2010; 31:482-91

2009

Boraldi F, Annovi G, Guerra D, Paolinelli DeVincenzi C, Garcia-Fernandez MI, Panico F, De Santis G, Tiozzo R, Ronchetti I, Quaglino D. Fibroblast protein profile analysis highlights the role of oxidative stress and vitamin K recycling in the pathogenesis of pseudoxanthoma elasticum Proteomics-Clinical Applications 2009; 3: 1084-1098.
Charbel Issa P, Finger RP, Holz FG, Scholl HP. Multimodal imaging including spectral domain OCT and confocal near infrared reflectance for characterization of outer retinal pathology in pseudoxanthoma elasticum. Invest Ophthalmol Vis Sci. 2009;50:5913-8.
Diekmann U, Zarbock R, Hendig D, Szliska C, Kleesiek K, Götting C. Elevated circulating levels of matrix metalloproteinases MMP-2 and MMP-9 in pseudoxanthoma elasticum patients. J Mol Med. 2009 ;87:965-70.
Fabbri E, Forni GL, Guerrini G, Borgna-Pignatti C. Pseudoxanthoma elasticum-like syndrome and thalassemia: an update. Dermatol Online J. 2009;15:7.
Finger RP, Charbel Issa P, Ladewig M, Götting C, Holz FG, Scholl HP. Fundus autofluorescence in Pseudoxanthoma elasticum. Retina. 2009;29:1496-505.
Finger RP, Charbel Issa P, Ladewig MS, Götting C, Szliska C, Scholl HP, Holz FG. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol. 2009;54:272-85.
Fülöp K, Barna L, Symmons O, Závodszky P, Váradi A. Clustering of disease-causing mutations on the domain-domain interfaces of ABCC6. Biochem Biophys Res Commun. 2009;379:706-9.
Ganssauge M, Wilhelm H, Bartz-Schmidt KU, Aisenbrey S. Non-arteritic anterior ischemic optic neuropathy (NA-AION) after intravitreal injection of bevacizumab (Avastin) for treatment of angoid streaks in pseudoxanthoma elasticum. Graefes Arch Clin Exp Ophthalmol. 2009;247:1707-10.
Georgalas I, Papaconstantinou D, Koutsandrea C, Kalantzis G, Karagiannis D, Georgopoulos G, Ladas I. Angioid streaks, clinical course, complications, and current therapeutic management. Ther Clin Risk Manag. 2009;5:81-9.
Gonzalez ME, Votava HJ, Lipkin G, Sanchez M. Pseudoxanthoma elasticum. Dermatol Online J. 2009;15:17.
Guerra D., Roggiani J., Panico F., De Santis G., Gheduzzi D., Quaglino D., Pasquali-Ronchetti I. ABCC6 mutations in Italian PXE patients; an update describing 22 novel mutations. Connect. Tissue Res, 50: 80-81, 2009
Jiang Q, Endo M, Dibra F, Wang K, Uitto J. Pseudoxanthoma elasticum is a metabolic disease. J Invest Dermatol. 2009;129:348-54.
Jung K, Mannello F, Lein M. Translating molecular medicine into clinical tools: doomed to fail by neglecting basic preanalytical principles. J Transl Med. 2009;7:87.
Kocatürk E, Kavala M, Zindanci I, Koç M. Periumbilical perforatine pseudoxanthoma elasticum. Indian J Dermatol Venereol Leprol. 2009;75:329.
LaRusso J, Li Q, Jiang Q, Uitto J. Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)). J Invest Dermatol. 2009;129:1388-94.
Lee WJ, Bak H, Chang SE, Lee MW, Choi JH, Moon KC, Koh JK. Autosomal recessive type 2 pseudoxanthoma elasticum presenting with generalized skin laxity. J Dermatol. 2009;36:288-92.
Li Q, Grange DK, Armstrong NL, Whelan AJ, Hurley MY, Rishavy MA, Hallgren KW, Berkner KL, Schurgers LJ, Jiang Q, Uitto J. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. J Invest Dermatol. 2009;129:553-63.
Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol. 2009;18:1-11.
Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW. Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. Am J Pathol. 2009;174:534-40.
Madan V, Gangopadhyay M, Dawn G. Itchy papules on the neck. Clin Exp Dermatol. 2009;34:541-2.
Marchione R, Kim N, Kirsner RS. Pseudoxanthoma elasticum: new insights. J Invest Dermatol. 2009;129:258.
Moreira AP, Feijó FS, Pinto JM, Martinelli IL, Rochael MC. Pseudoxanthoma elasticum. Dermatol Online J. 2009;15:7.
Naouri M, Boisseau C, Bonicel P, Daudon P, Bonneau D, Chassaing N, Martin L. Manifestations of pseudoxanthoma elasticum in childhood. Br J Dermatol. 2009;161:635-9.
Plomp AS, Bergen AA, Florijn RJ, Terry SF, Toonstra J, van Dijk MR, de Jong PT. Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6. Genet Med. 2009;11:852-8.
Ramsay M, Greenberg T, Lombard Z, Labrum R, Lubbe S, Aron S, Marais AS, Terry S, Bercovitch L, Viljoen D. Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals. J Dermatol Sci. 2009;54:198-204.
Ratajewski M, de Boussac H, Pulaski L. Liver-specific enhancer in ABCC6 promoter-Functional evidence from natural polymorphisms. Biochem Biophys Res Commun. 2009;383:73-7.
Rusu M, Csiszár A, Hîncu D, Papp A. Groenblad Strandberg syndrome—case report. Oftalmologia. 2009;53:46-51.
Sato N, Nakayama T, Mizutani Y, Yuzawa M. Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks. Biochem Biophys Res Commun. 2009;380:548-53.
Sayanagi K, Sharma S, Kaiser PK. Spectral domain optical coherence tomography and fundus autofluorescence findings in pseudoxanthoma elasticum. Ophthalmic Surg Lasers Imaging. 2009;40:195-7.
Schiano Lomoriello D, Parravano MC, Chiaravalloti A, Varano M. Choroidal neovascularization in angioid streaks and pseudoxanthoma elasticum: 1 year follow-up. Eur J Ophthalmol. 2009;19:151-3.
Tiger JB, McKenzie J, Tran DT, Olerud JE, George E. Granulomatous dermatitis with pseudoxanthoma elasticum-like changes: report of a case in a patient with cystic fibrosis. Arch Dermatol. 2009;145:1292-5.
Wang AR, Lewis K, Lewis M, Robinson-Bostom L. Papillary dermal elastosis: a unique elastic tissue disorder or an unusual manifestation of pseudoxanthoma elasticum-like papillary dermal elastolysis? J Cutan Pathol. 2009;36:1010-3.
Wecke T, Knop C, Schreiber W, Behrens-Baumann W. Intraocular injections of bevacizumab in rare indications–two cases. Ophthalmologe. 2009;106:435-42.
Yu S, Ming A, Wegman A. Pseudoxanthoma elasticum-like lesions in association with thalassaemia major. Australas J Dermatol. 2009;50:186-9.
Zarbock R, Hendig D, Szliska C, Kleesiek K, Götting C. Vascular endothelial growth factor gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum. Hum Mol Genet. 2009;18:3344-51.

2008

Adam AM, Maritim MC. East Afr Med J. 2008;85:98-101.Pseudoxanthoma elasticum in a patient with sickle cell disease: case report.
Aessopos A, Floudas CS, Kati M, Tsironi M, Giakoumi X, Livir-Rallatos C, Farmakis D. Loss of vision associated with angioid streaks in beta-thalassemia intermedia.Int J Hematol. 2008;87:35-8.
Akram H, Sewell MD, Cheng LH. Pseudoxanthoma elasticum. Br J Oral Maxillofac Surg. 2008;46:237-8.
Altay M, Turgut F, Karakurt F, Kaya R, Ecemis Z, Gonen N, Akcay A, Duranay M. Membrano-proliferative glomerulonephritis associated with pseudoxanthoma elasticum. Int Urol Nephrol. 2008;40:1099-101.
Berkner KL. Vitamin K-dependent carboxylation. Vitam Horm. 2008;78:131-56.
Bock A, Schwegler G. Intracerebral haemorrhage as first manifestation of Pseudoxanthoma elasticum. Clin Neurol Neurosurg. 2008;110:262-4.
Borst P, van de Wetering K, Schlingemann R. Does the absence of ABCC6 (multidrug resistance protein 6) in patients with Pseudoxanthoma elasticum prevent the liver from providing sufficient vitamin K to the periphery? Cell Cycle. 2008;7:1575-9.
Buteică E, Stoicescu I, Burada F, Ioana M, Roşulescu E, Enescu A, Niculescu EC, Buteică SA, Stănoiu B. Pseudoxanthoma elasticum. Rom J Morphol Embryol. 2008;49:563-7.
Dereure O. Pseudoxanthoma elasticum with cutis laxa and multiple coagulation factor deficiency: a single genetic entity. Ann Dermatol Venereol. 2008;135:162-3.
Derriman L, Marshall J, Moorman C, Downes SM. The use of intravitreal bevacizumab to treat choroidal neovascular membranes (CNVMs). Retina. 2008;28:910; author reply 910-1.
Diallo JW, Daboué A, Ahnoux A, Sanfo O, Méda N. Lacquer cracks complicated with choroidal neovascularization in pseudoxanthoma elasticum: the first case report in Burkina Faso. J Fr Ophtalmol. 2008;31:883-7.
Drera B, Brezzi A, Zoppi N, Venturini M, Barlati S, Pinton PG, Colombi M. Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum. J Dermatol Sci. 2008;49:252-5.
Federico A, Weinel S, Fabre V, Callen JP. Dystrophic calcinosis cutis in pseudoxanthoma elasticum. J Am Acad Dermatol. 2008;58:707-10.
Finger RP, Charbel Issa P, Ladewig M, Holz FG, Scholl HP. Intravitreal bevacizumab for choroidal neovascularisation associated with pseudoxanthoma elasticum. Br J Ophthalmol. 2008;92:483-7.
Garcia-Fernandez MI, Gheduzzi D, Boraldi F, Paolinelli CD, Sanchez P, Valdivielso P, Morilla MJ, Quaglino D, Guerra D, Casolari S, Bercovitch L, Pasquali-Ronchetti I. Parameters of oxidative stress are present in the circulation of PXE patients. Biochim Biophys Acta. 2008;1782:474-81.
Goede J, Hack WW, Sijstermans K, Pierik FH. Testicular microlithiasis in a 2-year-old boy with pseudoxanthoma elasticum. J Ultrasound Med. 2008;27:1503-5.
Götting C, Adam A, Szliska C, Kleesiek K. Circulating P-, L- and E-selectins in pseudoxanthoma elasticum patients. Clin Biochem. 2008;41:368-74
Götting C, Hendig D, Zarbock R, Szliska C, Kleesiek K. Complement factor H variant p.Y402H in pseudoxanthoma elasticum patients. Genet Test. 2008;12:431-6.
Hedaya J, Freeman WR. The effect of treatments given to patients before initiation of anti-vascular endothelial growth factor treatment. Retina. 2008;28:911-2; author reply 912.
Hendig D, Adam A, Zarbock R, Szliska C, Kleesiek K, Götting C. Elevated serum levels of intercellular adhesion molecule ICAM-1 in Pseudoxanthoma elasticum. Clin Chim Acta. 2008;394:54-8.
Hendig D, Langmann T, Kocken S, Zarbock R, Szliska C, Schmitz G, Kleesiek K, Götting C. Gene expression profiling of ABC transporters in dermal fibroblasts of pseudoxanthoma elasticum patients identifies new candidates involved in PXE pathogenesis. Lab Invest. 2008;88:1303-15.
Hendig D, Zarbock R, Szliska C, Kleesiek K, Götting C. The local calcification inhibitor matrix Gla protein in pseudoxanthoma elasticum. Clin Biochem. 2008;41:407-12.
Japiassú RM, Japiassú MA, Pecego MG. Intravitreal bevacizumab in choroidal neovascularization secondary to Grönblad-Strandberg syndrome: case report. Arq Bras Oftalmol. 2008;71:427-9.
Larusso J, Jiang Q, Li Q, Uitto J. Ectopic mineralization of connective tissue in Abcc6(-/-) mice: effects of dietary modifications and a phosphate binder – a preliminary study. Exp Dermatol. 2008;17:203-7.
Lee HS, Song HJ, Hong WK, Shin JH, Choi GS. Pseudoxanthoma elasticum-like papillary dermal elastolysis with solar elastosis. J Eur Acad Dermatol Venereol. 2008;22:368-9.
Lee TK, Forooghian F, Cukras C, Wong WT, Chew EY, Meyerle CB. Complementary angiographic and autofluorescence findings in pseudoxanthoma elasticum. Int Ophthalmol. 2008,30:77-9
Li Q, Jiang Q, Uitto J. Pseudoxanthoma Elasticum: Oxidative Stress and antioxidant Diet in a Mouse Model (Abcc6(-/-)). J Invest Dermatol. 2008;128:1160-4.
Lolis MS, Marmur ES. Treatment of disseminated superficial actinic porokeratosis (DSAP) with the Q-switched ruby laser. J Cosmet Laser Ther. 2008;10:124-7.
Lommatzsch A. Management of choroidal vascularisation. Br J Ophthalmol. 2008;92:445-6.
Maccari F, Volpi N. Structural characterization of the skin glycosaminoglycans in patients with pseudoxanthoma elasticum. Int J Dermatol. 2008;47:1024-7.
Martin L, Maître F, Bonicel P, Daudon P, Verny C, Bonneau D, Le Saux O, Chassaing N. Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE. Arch Dermatol. 2008;144:301-6.
Meissner M, Kaufmann R. Pseudoxanthoma elasticum with “angioid streaks” (Grönblad-Strandberg syndrome). Dtsch Med Wochenschr. 2008;133:959-60.
Morrier JJ, Romeas A, Lacan E, Farges JC. A clinical and histological study of dental defects in a 10-year-old girl with pseudoxanthoma elasticum and amelogenesis imperfecta. Int J Paediatr Dent. 2008;18:389-95.
Nozzi L, Grenier de Cardenal D, El Alamy F, Duyninh T, Martin L. Prevalence of involvement of the oral mucosa and periodontal tissue in pseudoxanthoma elasticum. Ann Dermatol Venereol. 2008;135:183-6.
Pajot C, Le Clec’h C, Hoareau F, Croue A, Verret JL. Two cases of papular elastorrhexis. Ann Dermatol Venereol. 2008;135:757-61.
Piehler AP, Hellum M, Wenzel JJ, Kaminski E, Haug KB, Kierulf P, Kaminski WE. The human ABC transporter pseudogene family: Evidence for transcription and gene-pseudogene interference. BMC Genomics. 2008 Apr 11;9:165.
Plomp AS, Florijn RJ, Ten Brink J, Castle B, Kingston H, Martín-Santiago A, Gorgels TG, de Jong PT, Bergen AA. ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones. Mol Vis. 2008;14:118-24.
Ratajewski M, Van de Ven WJ, Bartosz G, Pulaski L. The human pseudoxanthoma elasticum gene ABCC6 is transcriptionally regulated by PLAG family transcription factors. Hum Genet. 2008;124:451-63.
Renard D, Castelnovo G, Jeanjean L, Perrochia H, Brunel H, Labauge P. Teaching neuroimage: Microangiopathic complications in pseudoxanthoma elasticum. Neurology. 2008;71:e69.
Sur MD, Nguyen SQ, Labow DM, Scordi-Bello I, Lento PA, Hyun JG. Pseudoxanthoma elasticum: a case of total gastrectomy for gastric hemorrhage. Am Surg. 2008;74:361-2.
Symmons O, Váradi A, Arányi T. How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes. Mol Biol Evol. 2008;25:2601-13.
Tan WC, Rodeck CH. Placental calcification in pseudoxanthoma elasticum. Ann Acad Med Singapore. 2008;37:598-600.
Tsui I, Fuchs BS, Chou CL, Chang S, Tsang SH. Non-vascular vision loss in pseudoxanthoma elasticum. Doc Ophthalmol. 2008;117:65-7.
Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat. 2008;29:205.
Vasquez G, Keimig W, Batillana G, Caballero J, Del Aguila J, Scavino Y. A curious case study. J Fam Pract. 2008;57:812-6.
von Beckerath O, Gaa J, von Mohrenfels CW, von Beckerath N. Images in cardiovascular medicine. Intermittent claudication in a 28-year-old man with pseudoxanthoma elasticum. Circulation. 2008;118:102-4.
Vuotto F, Chevrier E, Bourgeois E, Cambier N, Chevalier J, Rose C.Pseudoxanthoma elasticum-like syndrome associated with hemoglobinopathy: a case report. Rev Med Interne. 2008;29:315-8.
Wecke T, Knop C, Schreiber W, Behrens-Baumann W. Intraocular injections of bevacizumab in rare indications – two cases. Ophthalmologe. 2008, 106:435-42.

2007

Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding? Invest Ophthalmol Vis Sci. 2007;48:4250-6.
Aydin E, Demir HD, Batioglu F, Sezer E. Atypical fundus lesions in juvenile pseudoxanthoma elasticum. Ophthalmic Res. 2007;39:344-7.
Ballabio E, Bersano A, Bresolin N, Candelise L. Monogenic vessel diseases related to ischemic stroke: a clinical approach. J Cereb Blood Flow Metab. 2007;27:1649-62.
Bari AU, Haq IU, Rani M, Nadeem A, Taj MA. Pseudoxanthoma elasticum and nephrolithiasis: a rare association.J Coll Physicians Surg Pak. 2007;17:686-8.
Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG. ABCC6 and pseudoxanthoma elasticum. Pflugers Arch. 2007; 453:685-91.
Bhatnagar P, Freund KB, Spaide RF, Klancnik JM Jr, Cooney MJ, Ho I, Fine HF, Yannuzzi LA. Intravitreal bevacizumab for the management of choroidal neovascularization in pseudoxanthoma elasticum. Retina 2007;27:897-902.
Borgna-Pignatti C. Modern treatment of thalassaemia intermedia. Br J Haematol. 2007;138:291-304.
Bowen AR, Götting C, LeBoit PE, McCalmont TH. Pseudoxanthoma elasticum-like fibers in the inflamed skin of patients without pseudoxanthoma elasticum. J Cutan Pathol. 2007;34:777-81.
Brown SJ, Talks SJ, Needham SJ, Taylor AE. Pseudoxanthoma elasticum: biopsy of clinically normal skin in the investigation of patients with angioid streaks. Br J Dermatol. 2007;157:748-51.
Byun JY, DO MO, Kim SH, Choi HY, Myung KB, Choi YW. Pseudoxanthoma elasticum-like papillary dermal elastolysis developed in early middle age. J Dermatol. 2007;34:709-11.
Chassaing N, Martin L, Bourthoumieu S, Calvas P, Hovnanian A. Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients. Hum Mutat. 2007;28:1046.
Chraïbi R, Ismaili N, Belgnaoui F, Akallal N, Bouhllab J, Senouci K, Hassam B. Pseudoxanthoma elasticum and nephrocalcinosis. Ann Dermatol Venereol. 2007;134:764-6.
Donas KP, Schulte S, Horsch S. Balloon angioplasty in the treatment of vascular lesions in pseudoxanthoma elasticum. J Vasc Interv Radiol. 2007;18:457-9.
Douet V, Heller MB, Le Saux O. DNA methylation and Sp1 binding determine the tissue-specific transcriptional activity of the mouse Abcc6 promoter. Biochem Biophys Res Commun. 2007;354:66-71.
Gheduzzi D, Boraldi F, Annovi G, DeVincenzi CP, Schurgers LJ, Vermeer C, Quaglino D, Pasquali-Ronchetti I. Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients. Lab Invest. 2007;87:998-1008.
Goral V, Demir D, Tuzun Y, Keklikci U, Buyukbayram H, Bayan K, Uyar A. Pseudoxantoma elasticum, as a repetitive upper gastrointestinal hemorrhage cause in a pregnant woman. World J Gastroenterol. 2007;13:3897-9.
Götting C, Kuhn J, Kleesiek K. Human xylosyltransferases in health and disease.Cell Mol Life Sci. 2007;64:1498-517.
Hendig D, Arndt M, Szliska C, Kleesiek K, Götting C. SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum. Clin Chem. 2007;53:829-36.
Jiang Q, Li Q, Uitto J. Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors. J Invest Dermatol. 2007;127:1392-402.
Khan MA, Beard J. Peripheral vascular disease in an individual with pseudoxanthoma elasticum. Eur J Vasc Endovasc Surg. 2007;34:590-1.
Kieć-Wilk B, Surdacki A, Dembińska-Kieć A, Michalowska J, Stachura-Dereń M,Dubiel JS, Dudek D, Rakowski T, Szastak G, Bodzioch M, Aslanidis C, Schmitz G. Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum. Int J Cardiol. 2007;116:261-2.
Kimura T, Watanabe S. Nonatherosclerotic coronary artery disease. Nippon Rinsho. 2007 ;28Suppl 5 :228-33.
Kocaman SA, Tavil Y, Yalçin MR. Severe coronary artery disease in a 21-year-old girl with pseudoxanthoma elasticum and anomalous origin of the right coronary artery. Acta Cardiol. 2007;62:417-9.
Kumar GN, Ragi KV, Nair PS. Pseudoxanthoma elasticum with cerebrovascular accident.Indian J Dermatol Venereol Leprol. 2007;73:191-3.
Kumar S. Pseudoxanthoma elasticum and cerebral ischemic stroke. Indian J Dermatol Venereol Leprol. 2007;73:433-4; author reply 434.
Le Scanff J, Sève P, Dalle S, Kodjikian L, Thomas L, Broussolle C. Coexisting pseudoxanthoma elasticum and lupus erythematosus: report of two cases. Int J Dermatol. 2007;46:622-4.
Li Q, Jiang Q, Larusso J, Klement JF, Sartorelli AC, Belinsky MG, Kruh GD,, Uitto J. Targeted ablation of Abcc1 or Abcc3 in Abcc6(-/-) mice does not modify the ectopic mineralization process. Exp Dermatol. 2007;16:853-9.
Li Q, Jiang Q, Schurgers LJ, Uitto J. Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-). Biochem Biophys Res Commun. 2007;364:208-13.
Martin L, Chassaing N, Delaite D, Estève E, Maître F, Le Bert M. Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum. J Eur Acad Dermatol Venereol. 2007;21:368-73.
Miki K, Yuri T, Takeda N, Takehana K, Iwasaka T, Tsubura A. An autopsy case of pseudoxanthoma elasticum: histochemical characteristics.Med Mol Morphol. 2007;40:172-7.
Munteanu M, Chercotä V. Optic nerve drusen and angioid streaks in pseudoxanthoma elasticum. Oftalmologia. 2007;51:99-102.
Naouri M, Michenet P, Chassaing N, Martin L. Immunohistochemical characterization of elastofibroma and exclusion of ABCC6 as a predisposing gene. Br J Dermatol. 2007;156:755-8.
Parodi MB, Iacono P, Ravalico G. Subretinal neovascular membrane associated with type 2a idiopathic juxtafoveolar telangiectasis in pseudoxanthoma elasticum.Graefes Arch Clin Exp Ophthalmol. 2007;245:612-5.
Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR,Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet. 2007;44:621-8.
Querques G, delle Noci N. Fundus autofluorescence. Ophthalmology. 2007;114:1233
Rinaldi M, Dell’Omo R, Romano MR, Chiosi F, Cipollone U, Costagliola C. Intravitreal bevacizumab for choroidal neovascularization secondary to angioid streaks. Arch Ophthalmol. 2007;125:1422-3.
Sayin MO, Atilla AO, Esenlik E, Ozen T, Karahan N. Oligodontia in pseudoxanthoma elasticum. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;103:e60-4.
Shi Y, Terry SF, Terry PF, Bercovitch LG, Gerard GF. Development of a rapid, reliable genetic test for pseudoxanthoma elasticum. J Mol Diagn. 2007;9:105-12.
Sillero-Sánchez M, Gómez-González MB, Asencio-Marchante JJ, Rodríguez-Moreno E. Pseudoxanthoma elasticum as an infrequent cause of stroke. Rev Neurol. 2007;45:253.
Soutome N, Sugahara M, Okada AA, Hida T. Subretinal hemorrhages after blunt trauma in pseudoxanthoma elasticum. Retina. 2007;27:807-8.
Stöllberger C, Finsterer J. Extracardiac medical and neuromuscular implications in restrictive cardiomyopathy. Clin Cardiol. 2007;30:375-80
Takata T, Ikeda M, Kodama H, Kitagawa N. Treatment of pseudoxanthoma elasticum with tocopherol acetate and ascorbic acid. Pediatr Dermatol. 2007;24:424-5.
Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG. Advocacy groups as research organizations: the PXE International example. Nat Rev Genet. 2007;8:157-64.
Uitto J, Jiang Q. Pseudoxanthoma elasticum-like phenotypes: more diseases than one. J Invest Dermatol. 2007;127:507-10.
van Meurs T, van Hagen JM, van de Scheur MR, Vermaat H, Ruijs MW, van den Hoogenband HM, Starink TM. Classic pseudoxanthoma elasticum in a patient with sickle cell disease. J Am Acad Dermatol. 2007;56:170-1.
Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol. 2007;127:581-7.
Yu XQ, Xue CC, Wang G, Zhou SF. Multidrug resistance associated proteins as determining factors of pharmacokinetics and pharmacodynamics of drugs. Curr Drug Metab. 2007;8:787-802.
Zarbock R, Hendig D, Szliska C, Kleesiek K, Götting C. Pseudoxanthoma elasticum: genetic variations in antioxidant genes are risk factors for early disease onset. Clin Chem. 2007;53:1734-40.

2006

Antiga E, Melani L, Caproni M, Fabbri P. An unusual cause of gastrointestinal bleeding in a young girl. CMAJ. 2006;175:583.
Barnadas MA, Curell R, Pujol R, Moragas J, Alomar A. Elastosis perforans serpiginosa in a patient with pseudoxanthoma elasticum. Actas Dermosifiliogr. 2006;97:451-5.
Bergen AA. Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. J Invest Dermatol. 2006;126:704-5.
Bidinger J, Gilson R. Asymptomatic yellowish papules. Am Fam Physician. 2006;74:807-9.
Cattan D, Bouali B, Chassaing N, Martinez F, Dupont JM, Dode C, Martin L. Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum. Br J Dermatol. 2006;154:1190-3.
Christen-Zach S, Huber M, Struk B, Lindpaintner K, Munier F, Panizzon RG, Hohl D. Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data. Br J Dermatol. 2006;155:89-93.
Chung AK, Gauba V, Ghanchi FD. Photodynamic therapy (PDT) using verteporfin for juxtafoveal choroidal neovascularisation (CNV) in angioid streaks (AS) associated with pseudoxanthoma elasticum: 40 months results. Eye. 2006; 20:629-631
Douet V, VanWart CM, Heller MB, Reinhard S, Le Saux O. HNF4alpha and NF-E2 are key transcriptional regulators of the murine Abcc6 gene expression. Biochim Biophys Acta. 2006;1759:426-36.
Farhi D, Descamps V, Picard C, Mahieu-Caputo D, Doan S, Crickx B. Is pseudoxanthoma elasticum with severe angioid streaks an indication for Caesarean section? J Eur Acad Dermatol Venereol. 2006;20:1361-2.
Farmakis D, Polonifi A, Deftereos S, Tsironi M, Papaioannou I, Aessopos A. Aortic valve replacement in a patient with thalassemia intermedia. Ann Thorac Surg. 2006;81:737-9.
Hendig D, Schulz V, Arndt M, Szliska C, Kleesiek K, Gotting C. Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum. Clin Chem. 2006;52:227-34.
Horner KL, Kalus A, Hornung RL. Pseudoxanthoma elasticum and polymyositis in a child. J Am Acad Dermatol. 2006;54:S61-2.
Jiang Q, Matsuzaki Y, Li K, Uitto J. Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene. J Invest Dermatol. 2006;126:325-35.
Jiang Q, Uitto J. Pseudoxanthoma elasticum: a metabolic disease? J Invest Dermatol. 2006;126:1440-1.
Kamoun B, Khlif H, Mseddi M, Sayadi I, Turki H, Zahaf A, Feki J. Ocular manifestations of pseudoxanthoma elasticum. Presse Med. 2006;35:779-83.
Korff S, Schoensiegel F, Riechert N, Weichenhan D, Katus HA, Ivandic BT. Fine mapping of Dyscalc1, the major genetic determinant of dystrophic cardiac calcification in mice. Physiol Genomics. 2006;25:387-92.
Ladewig MS, Gotting C, Szliska C, Issa PC, Helb HM, Bedenicki I, Scholl HP, Holz FG. Pseudoxanthoma elasticum. Ophthalmologe. 2006;103:537-51
Ladewig MS, Gotting C, Szliska C, Issa PC, Helb HM, Bedenicki I, Scholl HP, Holz FG. Pseudoxanthoma elasticum. Ophthalmologe. 2006,103: 537-553.
Le Saux O, Bunda S, VanWart CM, Douet V, Got L, Martin L, Hinek A. Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro. J Invest Dermatol. 2006;126:1497-505.
Lewis KG, Lester BW, Pan TD, Robinson-Bostom L. Nephrogenic fibrosing dermopathy and calciphylaxis with pseudoxanthoma elasticum-like changes. J Cutan Pathol. 2006;33:695-700.
Martin L, Chassaing N. What is the current basis for the diagnosis of pseudoxanthoma elasticum? Ann Dermatol Venereol. 2006;133:963-5.
Martin L, Pissard S, Blanc P, Chassaing N, Legac E, Briault S, Le Bert M, Le Saux O. Increased haemoglobin A2 levels in pseudoxanthoma elasticum] Ann Dermatol Venereol. 2006;133(8-9 Pt 1):645-51.
Nguyen LD, Terbah M, Daudon P, Martin L. Left ventricular systolic and diastolic function by echocardiogram in pseudoxanthoma elasticum. Am J Cardiol. 2006;97:1535-7.
Pasquali-Ronchetti I, Garcia-Fernandez MI, Boraldi F, Quaglino D, Gheduzzi D, De Vincenzi Paolinelli C, Tiozzo R, Bergamini S, Ceccarelli D, Muscatello U. Oxidative stress in fibroblasts from patients with pseudoxanthoma elasticum: possible role in the pathogenesis of clinical manifestations. J Pathol. 2006, 208: 54-61
Pitarch G, Torrijos A, Garcia-Melgares ML, Roche E, Calatayud A, Fortea JM. Papillary dermal elastolysis similar to pseudoxanthoma elasticum. Actas Dermosifiliogr. 2006;97:131-3.
Ramos-E-Silva M, Libia Cardozo Pereira A, Bastos Oliveira G, Coelho da Silva Carneiro S. Connective tissue diseases: pseudoxanthoma elasticum, anetoderma, and Ehlers-Danlos syndrome in pregnancy. Clin Dermatol. 2006;24:91-6.
Ratajewski M, Bartosz G, Pulaski L. Expression of the human ABCC6 gene is induced by retinoids through the retinoid X receptor. Biochem Biophys Res Commun. 2006;350:1082-7.
Rayatt S, Pandey U, Khanna A. Familial pseudo pseudoxanthoma elasticum. J Plast Reconstr Aesthet Surg. 2006;59:1127-9.
Ringpfeil F, McGuigan K, Fuchsel L, Kozic H, Larralde M, Lebwohl M, Uitto J. Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity. J Invest Dermatol. 2006;126:782-6.
Sakata S, Su JC, Robertson S, Yin M, Chow C. Varied presentations of pseudoxanthoma elasticum in a family. J Paediatr Child Health. 2006;42:817-20.
Sawa M, Ober MD, Freund KB, Spaide RF. Fundus autofluorescence in patients with pseudoxanthoma elasticum. Ophthalmology. 2006;113:820.
Schon S, Schulz V, Prante C, Hendig D, Szliska C, Kuhn J, Kleesiek K, Gotting C. Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. J Med Genet. 2006;43:745-9.
Schroder F, Hausser I, Szliska C, Lawall H, Diehm C. Images in vascular medicine. Pseudoxanthoma elasticum: under-recognized cause of early onset peripheral arterial disease? Vasc Med. 2006;11:266-7.
Schulz V, Hendig D, Henjakovic M, Szliska C, Kleesiek K, Gotting C. Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE). Hum Mutat. 2006;27:831.
Vanakker OM, Voet D, Petrovic M, van Robaeys F, Leroy BP, Coucke P, de Paepe A. Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers. Br J Radiol. 2006;79:221-5.
Volpi N, Maccari F. Chondroitin sulfate in normal human plasma is modified depending on the age. Its evaluation in patients with pseudoxanthoma elasticum.Clin Chim Acta. 2006;370:196-200.
Xiromeritis P, Valembois B. Pseudoxanthoma elasticum and pregnancy. Arch Gynecol Obstet. 2006; 278:253-54
Yoshida S. What can we learn from molecular genetic analyses of inherited eye diseases? Nippon Ganka Gakkai Zasshi. 2006;110:898-913.
Zaraa I, Cherif F, Abdelmoula F, Mokni M, Ben Tekaya N, Haouet S, Ben Osman DA. Pseudoxanthoma elasticum: a report of 11 cases.Tunis Med. 2006;84:296-300.

2005

Agarwal A, Patel P, Adkins T, Gass JD. Spectrum of pattern dystrophy in pseudoxanthoma elasticum. Arch Ophthalmol. 2005;123:923-8.
Aranyi T, Ratajewski M, Bardoczy V, Pulaski L, Bors A, Tordai A, Varadi A. Identification of a DNA Methylation-dependent Activator Sequence in the Pseudoxanthoma Elasticum Gene, ABCC6. J Biol Chem. 2005; 280:18643-50.
Baglini R, Sesana M, Capuano C, Danzi GB. Intracoronary ultrasound guided percutaneous coronary angioplasty using a drug eluting stent in a patient with pseudoxanthoma elasticum. Atherosclerosis. 2005;180:205-7.
Beck K, Dang K, Boyd CD. The tissue distribution of murine Abcc6 (Mrp6) during embryogenesis indicates that the presence of Abcc6 in elastic tissues is not required for elastic fiber assembly. J Mol Histol. 2005;36:167-70.
Becuwe C, DaIle S, Ronger-Savle S, Skowron F, Balme B, Kanitakis J, Thomas L. Elastosis perforans serpiginosa associated with pseudo-pseudoxanthoma elasticum during treatment of Wilson’s disease with penicillamine. Dermatology. 2005;210:60-3.
Belgnaoui F, Bensahraoui M, Hannound S, Ourhrouil MA, Mansouri F, Hassam B. Pseudoxanthoma elasticum and elastofibroma: is there any relationship? Ann Dermatol Venereol. 2005;132:564-6.
Bercovitch RS, Januario JA, Terry SF, Boekelheide K, Podis AD, Dupuy DE, Bercovitch LG. Testicular microlithiasis in association with pseudoxanthoma elasticum. Radiology. 2005;237:550-4.
Boraldi F, Tonelli M, Gheduzzi D, Pasquali-Ronchetti I, Quaglino D. Identification of mineralized elastic fibers on wet samples by SEM. Microsc Res Tech. 2005;67:296-9.
Browning AC, Chung AK, Ghanchi F, Harding SP, Musadiq M, Talks SJ, Yang YC, Amoaku WM; United Kingdom PDT Users Group. Verteporfin photodynamic therapy of choroidal neovascularization in angioid streaks: one-year results of a prospective case series. Ophthalmology. 2005;112:1227-31.
Cassetty CT. Chronic cutaneous lupus erythematosus mimicking pseuxanthoma elasticum. Dermatol Online J. 2005;11:26.
Cerrato P, Giraudo M, Baima C, Grasso M, Azzaro C, Lentini A, Perozzo P, Doveil G, Bergamasco B. Asymptomatic white matter ischemic lesions in a patient with pseudoxanthoma elasticum. J Neurol. 2005; 252:848-9.
Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet. 2005; 42:881-892
Conseil G, Deeley RG, Cole SP. Polymorphisms of MRP1 (ABCC1) and related ATP-dependent drug transporters. Pharmacogenet Genomics. 2005;15:523-533.
Fabre B, Bayle P, Bazex J, Durand D, Lamant L, Chassaing N. Pseudoxanthoma elasticum and nephrolithiasis. J Eur Acad Dermatol Venereol. 2005;19:212-5.
Gheduzzi D, Guerra D, Bochicchio B, Pepe A, Tamburro AM, Quaglino D, Mithieux S, Weiss AS, Pasquali-Ronchetti I.Heparan sulphate interacts with tropoelastin, with some tropoelastin peptides and is present in human dermis elastic fibers. Matrix Biol. 2005;24:15-25.
Golliet-Mercier N, Allaouchiche B, Monneuse O. Pseudoxanthoma elasticum with severe gastrointestinal bleeding. Ann Fr Anesth Reanim. 2005;24:833-4.
Gorgels TG, Hu X, Scheffer GL, van der Wal AC, Toonstra J, de Jong PT, van Kuppevelt TH, Levelt CN, de Wolf A, Loves WJ, Scheper RJ, Peek R, Bergen AA. Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet. 2005;14:1763-73.
Gotting C, Hendig D, Adam A, Schon S, Schulz V, Szliska C, Kuhn J, Kleesiek K. Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis. J Mol Med. 2005; 83:984-92
Hendig D, Schulz V, Arndt M, Szliska C, Kleesiek K, Götting C. Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum. Clin Chem. 2006;52:227-34.
Hendig D, Schulz V, Eichgrun J, Szliska C, Gotting C, Kleesiek K. New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.J Mol Med. 2005;83:140-7.
Katona E, Aslanidis C, Remenyik E, Csikos M, Karpati S, Paragh G, Schmitz G. Identification of a novel deletion in the ABCC6 gene leading to Pseudoxanthoma elasticum. J Dermatol Sci. 2005;40:115-21.
Klement JF, Matsuzaki Y, Jiang QJ, Terlizzi J, Choi HY, Fujimoto N, Li K, Pulkkinen L, Birk DE, Sundberg JP, Uitto J. Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol. 2005;25:8299-310.
Laube S, Moss C. Pseudoxanthoma elasticum. Arch Dis Child. 2005;90:754-6.
Lodge AJ, Dodd LG, Lowe JE. Arterial conduits should be evaluated preoperatively in coronary artery bypass patients with pseudoxanthoma elasticum.Tex Heart Inst J. 2005;32:576-8; discussion 578.
Matsuzaki Y, Nakano A, Jiang QJ, Pulkkinen L, Uitto J. Tissue-specific expression of the ABCC6 gene. J Invest Dermatol. 2005;125:900-5.
Meyer S, Zanardo L, Kaminski WE, Horn P, Schmitz G, Hohenleutner U, Herrmann WA, Landthaler M, Vogt T. Elastosis perforans serpiginosa-like pseudoxanthoma elasticum in a child with severe Moya Moya disease. Br J Dermatol. 2005;153:431-4.
Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zach S, Daugherty C, Ramesar RK, Lebwohl M, Hohl D, Neldner KH, Lindpaintner K, Richards RI, Struk B. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.Hum Mutat. 2005;26:235-48.
Ortiz Gorraiz MA, Casares Arias A, Tallada Bunuel M, Vicente Prados FJ, Honrubia Vilchez B, Fernandez Sanchez A. Urologic findings in pseudoxanthoma elasticum: report one case. Actas Urol Esp. 2005; 29:96-9.
Pavlovic AM, Zidverc-Trajkovic J, Milovic MM, Pavlovic DM, Jovanovic Z, Mijajlovic M, Petrovic M, Kostic VS, Sternic N. Cerebral small vessel disease in pseudoxanthoma elasticum: three cases. Can J Neurol Sci. 2005;32:115-8.
Quaglino D, Sartor L, Garbisa S, Boraldi F, Croce A, Passi A, De Luca G, Tiozzo R, Pasquali-Ronchetti I. Dermal fibroblasts from pseudoxanthoma elasticum patients have raised MMP-2 degradative potential.Biochim Biophys Acta. 2005;1741:42-7.
Rath N, Bhardwaj A, Kar HK, Sharma PK, Bharadwaj M, Bharija SC. Penicillamine induced pseudoxanthoma elasticum with elastosis perforans serpiginosa. Indian J Dermatol Venereol Leprol. 2005;71:182-5.
Schulz V, Hendig D, Schillinger M, Exner M, Domanovits H, Raith M, Szliska C, Kleesiek K, Gotting C. Analysis of sequence variations in the ABCC6 gene among patients with abdominal aortic aneurysm and pseudoxanthoma elasticum. J Vasc Res. 2005;42:424-32.
Schulz V, Hendig D, Szliska C, Gotting C, Kleesiek K. Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum. Hum Biol. 2005;77:367-84.
Sharp MT, Davis DA. A case of pseudoxanthoma elasticum? Dermatol Surg. 2005;31:978.
Sherer DW, Singer G, Uribarri J, Phelps RG, Sapadin AN, Freund KB, Yanuzzi L, Fuchs W, Lebwohl M. Oral phosphate binders in the treatment of pseudoxanthoma elasticum. J Am Acad Dermatol. 2005;53:610-5.
Uitto J. The gene family of ABC transporters–novel mutations, new phenotypes.Trends Mol Med. 2005;11:341-3.
Volpi N, Maccari F. Composition of urinary glycosaminoglycans in a patient with pseudoxanthoma elasticum and familial Mediterranean fever. Clin Chim Acta. 2005;359:207-9.
Wang DG, Zhu WY. White fibrous papulosis of the neck: a chinese case. Dermatol. 2005;32:497-9.
Wegman JJ, Hu X, Tan H, Bergen AA, Trip MD, Kastelein JJ, Smulders YM. Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype. Int J Cardiol. 2005;100:389-93.
Yoshida S, Honda M, Yoshida A, Nakao S, Goto Y, Nakamura T, Fujisawa K, Ishibashi T.Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa. Eye. 2005;19:215-7.

2004

Annovazzi L, Viglio S, Gheduzzi D, Pasquali-Ronchetti I, Zanone C, Cetta G,Iadarola P. High levels of desmosines in urine and plasma of patients with pseudoxanthoma elasticum. Eur J Clin Invest. 2004;34:156-64.
Bahadir S, Cobanoğlu U, Siviloglu C, Kapicioglu Z, Baykan M. Cutis laxa-like pseudoxanthoma elasticum with ossification. Int J Dermatol. 2004;43:375-8.
Barrie L, Mazereeuw-Hautier J, Garat H, Bonafe JL. Early pseudoxanthoma elasticum with severe cardiovascular involvement. Ann Dermatol Venereol. 2004;131:275-8.
Bercovitch L, Leroux T, Terry S, Weinstock MA. Pregnancy and obstetrical outcomes in pseudoxanthoma elasticum. Br J Dermatol. 2004;151:1011-8.
Bercovitch L, Terry P. Pseudoxanthoma elasticum 2004. J Am Acad Dermatol. 2004;51(1 Suppl):S13-4.
Bergen AA, Plomp AS, Gorgels TG, de Jong PT. From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene. Ned Tijdschr Geneeskd. 2004;148:1586-9.
Chassaing N, Martin L, Mazereeuw J, Barrié L, Nizard S, Bonafé JL, Calvas P, Hovnanian A. Novel ABCC6 mutations in pseudoxanthoma elasticum. J Invest Dermatol. 2004;122:608-13.
Farmakis D, Deftereos S, Giakoumis A, Polymeropoulos E, Aessopos A. Rupture of chordae tendineae in patients with beta-thalassemia. Eur J Haematol. 2004;72:296-8.
Farmakis D, Vesleme V, Papadogianni A, Tsaftaridis P, Kapralos P, Aessopos A. Aneurysmatic dilatation of ascending aorta in a patient with beta-thalassemia and a pseudoxanthoma elasticum-like syndrome. Ann Hematol. 2004;83:596-9.
Gheduzzi D, Guidetti R, Anzivino C, Tarugi P, Di Leo E, Quaglino D, Pasquali-Ronchetti I. ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). Hum Mutat. 2004;24:438-9.
Götting C, Schulz V, Hendig D, Grundt A, Dreier J, Szliska C, Brinkmann T,Kleesiek K. Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients. Lab Invest. 2004;84:122-30.
Harper J. PXE: the elephant in my room. J Am Acad Dermatol. 2004;51(1 Suppl):S14-5.
Hendig D, Schulz V, Eichgrün J, Szliska C, Götting C, Kleesiek K. New ABCC6 gene mutations in German pseudoxanthoma elasticum patients. J Mol Med. 2005;83:140-7.
Hu X, Plomp A, Gorgels T, Brink JT, Loves W, Mannens M, de Jong PT, Bergen AA. Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.Genet Test. 2004;8:292-300.
Inamadar AC, Palit A. Pseudoxanthoma elasticum. Postgrad Med J. 2004;80:297.
Kornet L, Bergen AA, Hoeks AP, Cleutjens JP, Oostra RJ, Daemen MJ, van Soest S, Reneman RS. In patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation. Ultrasound Med Biol. 2004;30:1041-8.
Kuzmanovska DB, Sahpazova E, Grujovska S, Sukareva E, Petrusevska G. Orange-like skin lesion and hypertension–what is the link? Nephrol Dial Transplant. 2004;19:2407-9.
Lalla S, Kavanagh GM. Acquired pseudoxanthoma elasticum of the elbow flexures.Br J Dermatol. 2004;151:242-4.
Makharia GK, Thapa BR, Poddar U, Narasimhan KL, Girish CS, Vaiphei K, Singh K. Pseudoxanthoma elasticum: a rare cause of recurrent gastrointestinal bleeding in a child.Indian J Gastroenterol. 2004;23:231-2.
Marshall E. Genetics. Patient advocate named co-inventor on patent for the PXE disease gene. Science. 2004;305:1226.
Miwa K, Higashikata T, Mabuchi H. Intravascular ultrasound findings of coronary wall morphology in a patient with pseudoxanthoma elasticum. Heart. 2004;90:e61.
Murthy S, Prasad S. Pseudoxanthoma elasticum and nonarteritic anterior ischaemic optic neuropathy. Eye. 2004;18:201-2; discussion 202.
Noji Y, Inazu A, Higashikata T, Nohara A, Kawashiri MA, Yu W, Todo Y, Nozue T, Uno Y, Hifumi S, Mabuchi H. Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE). Intern Med. 2004;43:1171-6.
Perdu J, Champion K, Emmerich J, Fiessinger JN. Microvascular involvement in pseudoxanthoma elasticum. Capillaroscopic findings. Presse Med. 2004;33:518-21.
Pinto K, Pena RD. Testicular calcifications in pseudoxanthoma elasticum. J Urol. 2004;171:1898.
Plomp AS, Hu X, de Jong PT, Bergen AA. Does autosomal dominant pseudoxanthoma elasticum exist? Am J Med Genet A. 2004;126A:403-12
Pohl A, Devaux PF, Herrmann A. Function of prokaryotic and eukaryotic ABC proteins in lipid transport. Biochim Biophys Acta. 2005;1733:29-52.
Quaglino D, Sartor L, Garbisa S, Boraldi F, Croce A, Passi A, De Luca G,Tiozzo R, Pasquali-Ronchetti I. Dermal fibroblasts from pseudoxanthoma elasticum patients have raised MMP-2 degradative potential. Biochim Biophys Acta. 2005;1741:42-7.
Shivaswamy KN, Thappa DM. Yellow skin papules over the neck-pseudoxanthoma elasticum. Indian Pediatr. 2004;41:854-5.
Song HK, Sharoni E, Williams B Jr, Guyton RA, Puskas JD. Long-term left internal mammary artery graft patency for coronary artery disease associated with pseudoxanthoma elasticum. Ann Thorac Surg. 2004;78:691-3.
Taylor NE, Foster WC, Wick MR, Patterson JW. Tumefactive lipedema with pseudoxanthoma elasticum-like microscopic changes. J Cutan Pathol. 2004;31:205-9.
Uitto J. Pseudoxanthoma elasticum-a connective tissue disease or a metabolic disorder at the genome/environment interface? J Invest Dermatol. 2004;122:ix-x.
Yasuhara T, Sugiu K, Kakishita M, Date I. Pseudoxanthoma elasticum with carotid rete mirabile. Clin Neurol Neurosurg. 2004;106:114-7.

2003

Aissaoui R, Derbel F, Jallouli A, Smida H, Bouhaouala H, Hedi Dougui M, Zbiba M. Pseudoxanthoma elasticum, 5 case reports. Presse Med. 2003;32:1595-8.
Akali AU, Sharpe DT. Cervical midline Z-plasty revision surgery for pseudoxanthoma elasticum. Br J Plast Surg. 2003;56:289-91.
Beck K, Hayashi K, Nishiguchi B, Le Saux O, Hayashi M, Boyd CD. The distribution of Abcc6 in normal mouse tissues suggests multiple functions for this ABC transporter. J Histochem Cytochem. 2003;51:887-902.
Bercovitch L, Schepps B, Koelliker S, Magro C, Terry S, Lebwohl M. Mammographic findings in pseudoxanthoma elasticum. J Am Acad Dermatol. 2003;48:359-66.
Boraldi F, Quaglino D, Croce MA, Garcia Fernandez MI, Tiozzo R, Gheduzzi D, Bacchelli B, Pasquali- Ronchetti I. Multidrug resistance protein-6 (MRP6) in human dermal fibroblasts. Comparison between cells from normal subjects and from Pseudoxanthoma elasticum patients. Matrix Biol. 2003;22:491-500.
Douglas MJ, Gunka VB, von Dadelszen P. Anesthesia for the parturient with pseudoxanthoma elasticum. Int J Obstet Anesth. 2003;12:45-7.
Farmakis D, Moyssakis I, Perakis A, Rombos Y, Deftereos S, Giakoumis A, Polymeropoulos E, Aessopos A. Unstable angina associated with coronary arterial calcification in a thalassemia intermedia patient with a pseudoxanthoma elasticum-like syndrome. Eur J Haematol. 2003;70:64-6.
Galadari H, Lebwohl M. Pseudoxanthoma elasticum: Temporary treatment of chin folds and lines with
Gass JD. “Comet” lesion: an ocular sign of pseudoxanthoma elasticum.Retina. 2003;23:729-30.
Germain DP, Boutouyrie P, Laloux B, Laurent S. Arterial remodeling and stiffness in patients with pseudoxanthoma elasticum. Arterioscler Thromb Vasc Biol. 2003;23:836-41.
Gheduzzi D, Sammarco R, Quaglino D, Bercovitch L, Terry S, Taylor W, Pasquali-Ronchetti I. Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum. Ultrastruct Pathol. 2003;27:375-84.
Hamlin N, Beck K, Bacchelli B, Cianciulli P, Pasquali-Ronchetti I, Le Saux O. Acquired pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients. Br J Haematol. 2003;122:852-4.
Hu X, Peek R, Plomp A, ten Brink J, Scheffer G, van Soest S, Leys A, de Jong PT, Bergen AA. Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. Invest Ophthalmol Vis Sci. 2003;44:1824-9.
Hu X, Plomp A, Wijnholds J, Ten Brink J, van Soest S, van den Born LI, Leys A, Peek R, de Jong PT, Bergen AA. ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. Eur J Hum Genet. 2003;11:215-24.
Hu X, Plomp AS, van Soest S, Wijnholds J, de Jong PT, Bergen AA. Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. Surv Ophthalmol. 2003;48:424-38.
Kumano R, Ibi K, Koketsu Y, Tawara A. A case of optic nerve drusen associated with Grönblad-Strandberg syndrome. Nippon Ganka Gakkai Zasshi. 2003;107:613-8.
Lebwohl M, Lebwohl E, Bercovitch L. Prominent mental (chin) crease: a new sign of pseudoxanthoma elasticum. J Am Acad Dermatol. 2003;48:620-2.
Lopes LC, Lobo L, Bajanca R. Perforating calcific elastosis. J Eur Acad Dermatol Venereol. 2003;17:206-7.
Maccari F, Gheduzzi D, Volpi N. Anomalous structure of urinary glycosaminoglycans in patients with pseudoxanthoma elasticum. Clin Chem. 2003;49:380-8.
Morcher M, Hausser I, Brandt T, Grond-Ginsbach C. Heterozygous carriers of Pseudoxanthoma elasticum were not found among patients with cervical artery dissections. J Neurol. 2003;250:983-6.
Mseddi M, Turki H, Kammoun B, Sellemi D, Bouassida S, Fki J, Zahaf A. Pseudoxanthoma elasticum: 11 cases. Ann Dermatol Venereol. 2003;130:318-20.
Perdu J. Mendelian arterial diseases. Pseudoxanthoma elasticum, Ehlers-Danlos vascular syndrome, endu-Osler disease. Arch Mal Coeur Vaiss. 2003;96:1096-104.
Schmutz JL. Dermatological diseases influenced by pregnancy. Presse Med. 2003;32:1809-12.
Shepherd RF, Rooke T. Uncommon arteriopathies: what the vascular surgeon needs to know. Semin Vasc Surg. 2003;16:240-51.
Sinkó E, Iliás A, Ujhelly O, Homolya L, Scheffer GL, Bergen AA, Sarkadi B, Váradi A. Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells. Biochem Biophys Res Commun. 2003;308:263-9.
Takeshita T, Ozaki M. Central retinal artery occlusion in a patient with pseudoxanthoma elasticum. Hiroshima J Med Sci. 2003;52:33-4.
Wiemer M, Müller W, Heintzen M, Horstkotte D. Images in cardiovascular medicine. Pseudoxanthoma elasticum: coronary vascular specimen from atherectomy. Circulation. 2003;108:e19-20.
Youngs PJ, Sice P, Harvey P. Labour analgesia and pseudoxanthoma elasticum (PXE). Int J Obstet Anesth. 2003;12:48-50.
Zachariah M, Thomas SB, Stokes IM. Pseudoaxanthoma elasticum and pregnancy. J Obstet Gynaecol. 2003;23:433-4.

2002

[No authors listed]. Transgenomic in collaboration to develop diagnostic test for PXE. Expert Rev Mol Diagn. 2002;2:527.
Aessopos A, Farmakis D, Loukopoulos D. Elastic tissue abnormalities in inherited haemolytic syndromes. Eur J Clin Invest. 2002;32:640-2.
Aessopos A, Farmakis D, Loukopoulos D. Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes. Blood. 2002;99:30-5.
Akagi A, Tajima S, Kawada A, Ishibashi A. Coexistence of pseudoxanthoma elasticum-like papillary dermal elastolysis and linear focal dermal elastosis. J Am Acad Dermatol. 2002;47(2 Suppl):S189-92.
Akar A, Tastan HB, Ozcan A, Erbil H, Gür AR. Multiple keratoacanthomas arising on skin lesions of pseudoxanthoma elasticum. J Eur Acad Dermatol Venereol. 2002;16:533-4.
Aralikatti AK, Lee MW, Lipton ME, Kamath GG. Visual loss due to cerebral infarcts in pseudoxanthoma elasticum. Eye. 2002;16:785-6.
Belinsky MG, Chen ZS, Shchaveleva I, Zeng H, Kruh GD. Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6). Cancer Res. 2002;62:6172-7.
Bradbury J. Mutation affecting arterial elasticity associated with premature heart disease. Lancet. 2002;360:468.
Cai J, Daoud R, Alqawi O, Georges E, Pelletier J, Gros P. Nucleotide binding and nucleotide hydrolysis properties of the ABC transporter MRP6 (ABCC6). Biochemistry. 2002;41:8058-67.
Chen PH, Chang CH, Yu HS, Tsai RK. Pseudoxanthoma elasticum with abnormal nailfold microcirculatory findings. Kaohsiung J Med Sci. 2002;18:309-13.
Cianciulli P, Sorrentino F, Maffei L, Amadori S, Cappabianca MP, Foglietta E, Carnevali E, Pasquali-Ronchetti I.Cardiovascular involvement in thalassaemic patients with pseudoxanthoma elasticum-like skin lesions: a long-term follow-up study. Eur J Clin Invest. 2002;32:700-6.
Daikh BE, Kalmar JJ, Ritchlin CT. Pseudoxanthoma elasticum masquerading as Sjögren’s syndrome. J Clin Rheumatol. 2002;8:89-93.
Gushi A, Kanekura T, Mochitomi Y, Kawabata H, Kanzaki T. Pseudoxanthoma elasticum (PXE)-like calcification in adult dermatomyositis. J Dermatol. 2002;29:423-6
Iliás A, Urbán Z, Seidl TL, Le Saux O, Sinkó E, Boyd CD, Sarkadi B, Váradi A. Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). J Biol Chem. 2002; 277:16860-7.
Iliopoulos J, Manganas C, Jepson N, Newman DC. Pseudoxanthoma elasticum: is the left internal mammary artery a suitable conduit for coronary artery bypass grafting? Ann Thorac Surg. 2002;73:652-3.
Larralde M, Markan PA, Peruffo L, Calb I, Magariños G. Yellowish papules on flexural areas of a child. Pediatr Dermatol. 2002;19:557-9.
Le Saux O, Beck K, Sachsinger C, Treiber C, Göring HH, Curry K, Johnson EW, Bercovitch L, Marais AS, Terry SF, Viljoen DL, Boyd CD. Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. Hum Genet. 2002;111:331-8.
Ohtani T, Furukawa F. Pseudoxanthoma elasticum. J Dermatol. 2002;29:615-20.
Ohtani T, Furukawa F. Pseudoxanthoma elasticum: report of a case without any mutations in 5 exons of the MRP6 gene. J Dermatol. 2002;29:46-7.
Radford DJ, Pohlner PG. Formation of pannus on prosthetic valves in a child with pseudoxanthoma elasticum. Cardiol Young. 2002;12:183-5.
Trip MD, Smulders YM, Wegman JJ, Hu X, Boer JM, ten Brink JB, Zwinderman AH, Kastelein JJ, Feskens EJ, Bergen AA.Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Circulation. 2002;106:773-5.
Uitto J, Pulkkinen L, Ringpfeil F. Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum. J Invest Dermatol Symp Proc. 2002;7:6-16.

2001

Araki Y, Yokoyama T, Sagawa N, Okuno S, Hoshino Y, Sando Y, Hasegawa A, Kurabayashi M. Pseudoxanthoma elasticum diagnosed 25 years after the onset of cardiovascular disease. Intern Med. 2001;40:1117-20.
Baccarani-Contri M, Bacchelli B, Boraldi F, Quaglino D, Taparelli F, Carnevali E, Francomano MA, Seidenari S, Bettoli V, De Sanctis V, Pasquali-Ronchetti I. Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with beta-thalassemia. J Am Acad Dermatol. 2001;44:33-9.
Bendjelid K. Cardiovascular manifestations of systemic elastorrhexis. Rev Med Interne. 2001;22:371-8.
Boutouyrie P, Germain DP, Tropeano AI, Laloux B, Carenzi F, Zidi M, Jeunemaitre X, Laurent S. Compressibility of the carotid artery in patients with pseudoxanthoma elasticum. Hypertension. 2001;38:1181-4.
Brzosko I, Brzosko M. Pseudoxanthoma elasticum. Pol Arch Med Wewn. 2001;106:611-5.
Cai L, Lumsden A, Guenther UP, Neldner SA, Zäch S, Knoblauch H, Ramesar R, Hohl D, Callen DF, Neldner KH, Lindpaintner K, Richards RI, Struk B. A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum. J Mol Med. 2001;79:536-46.
Fogelman JP. Pseudoxanthoma elasticum. Dermatol Online J. 2001;7:16.
García Acuña JM, Vázquez Caamaño M, González Cid A, González-Juanatey JR, López Lago AM, Gil De La Peña M. Coronary ischemia caused by pseudoxanthoma elasticum and myocardial revascularization with double arterial graft. Rev Esp Cardiol. 2001;54:908-11.
Germain DP. Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene. J Med Genet. 2001;38:457-61.
Gheduzzi D, Taparelli F, Quaglino D Jr, Di Rico C, Bercovitch L, Terry S, Singer DB, Pasquali-Ronchetti I. The placenta in pseudoxanthoma elasticum: clinical, structural and immunochemical study. Placenta. 2001;22:580-90.
Ghomrasseni S, Dridi M, Bonnefoix M, Septier D, Gogly G, Pellat B, Godeau G. Morphometric analysis of elastic skin fibres from patients with: cutis laxa, anetoderma, pseudoxanthoma elasticum, and Buschke-Ollendorff and Williams-Beuren syndromes. J Eur Acad Dermatol Venereol. 2001;15:305-11.
Guzey M, Arvas S, Akar S, Ozkan S. Indocyanine green angiographic findings in young patients with Grönblad-Strandberg syndrome. Ophthalmologica. 2001;215:22-9.
Kruh GD, Zeng H, Rea PA, Liu G, Chen ZS, Lee K, Belinsky MG. MRP subfamily transporters and resistance to anticancer agents. J Bioenerg Biomembr. 2001;33:493-501.
Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet. 2001;69:749-64. Erratum in: Am J Hum Genet 2001 Dec;69:1413. Am J Hum Genet 2002;71:448.
Le Saux O, Martin L. The molecular genetics of pseudoxanthoma elasticum. Ann Dermatol Venereol. 2001;128:943-6.
Lorette G, Martin L, Bareau B. Pseudoxanthoma elasticum. Ann Dermatol Venereol. 2001;128:798. Erratum in: Ann Dermatol Venereol 2001;128:942.
Martin L, Le Saux O. News in pseudoxanthoma elasticum. Ann Dermatol Venereol. 2001;128:938-42.
Meloni I, Rubegni P, De Aloe G, Bruttini M, Pianigiani E, Cusano R, Seri M, Mondillo S, Federico A, Bardelli AM, Andreassi L, Fimiani M, Renieri A. Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. Hum Mutat. 2001;18:85.
Perdu J, Germain DP. Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum. Hum Mutat. 2001;17:74-5.
Pérez Santos S, Sánchez Herreros C, Solano JA, Lecona Echeverría M, Bueno Marco C. Pregnant woman with left hemiparesis and yellowish papules. Pseudoxanthoma elasticum. Rev Clin Esp. 2001;201:727-8.
Puig J, García-Arumí J, Salvador F, Sararols L, Calatayud M, Alforja S. Subretinal neovascularization and hemorrhages in angioid streaks. Arch Soc Esp Oftalmol. 2001;76:309-14.
Pulkkinen L, Nakano A, Ringpfeil F, Uitto J. Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. Hum Genet. 2001;109:356-65.
Richette P, Palazzo E, Kahn MF. Coexisting pseudo-xanthoma elasticum and rheumatoid arthritis. three cases and review of the literature. Joint Bone Spine. 2001;68:513-6.
Ringpfeil F, Nakano A, Uitto J, Pulkkinen L. Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. Am J Hum Genet. 2001;68:642-52.
Ringpfeil F, Pulkkinen L, Uitto J. Molecular genetics of pseudoxanthoma elasticum. Exp Dermatol. 2001;10:221-8.
Roth DB, Estafanous M, Lewis H. Macular translocation for subfoveal choroidal neovascularization in angioid streaks. Am J Ophthalmol. 2001;131:390-2.
Sherer DW, Bercovitch L, Lebwohl M. Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring. J Am Acad Dermatol. 2001;44:534-7.
Shiraki K, Kohno T, Moriwaki M, Yanagihara N. Fundus autofluorescence in patients with pseudoxanthoma elasticum.Int Ophthalmol. 2001;24:243-8.
Sueki H, Amemiya M, Watanabe H, Akiyama M, Sato S, Iijima M. Spontaneous resolution in a case of pseudo-pseudoxanthoma elasticum. Br J Dermatol. 2001;144:213-5.
Terry SF, Boyd CD. Researching the biology of PXE: partnering in the process. Am J Med Genet. 2001;106:177-84.
Tsomi K, Karagiorga-Lagana M, Karabatsos F, Fragodimitri C, van Vliet-Konstantinidou C, Premetis E, Stamoulakatou A.Arterial elastorrhexis in beta-thalassaemia intermedia, sickle cell thalassaemia and hereditary spherocytosis. Eur J Haematol. 2001;67:135-41.
Uitto J, Pulkkinen L, Ringpfeil F. Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? Trends Mol Med. 2001;7:13-7.
Wang J, Near S, Young K, Connelly PW, Hegele RA. ABCC6 gene polymorphism associated with variation in plasma lipoproteins. J Hum Genet. 2001;46:699-705.

2000

Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H, Swart J, Kool M, van Soest S, Baas F, ten Brink JB, de Jong PT. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet. 2000;25:228-31.
Buka R, Wei H, Sapadin A, Mauch J, Lebwohl M, Rudikoff D. Pseudoxanthoma elasticum and calcinosis cutis. J Am Acad Dermatol. 2000;43(2 Pt 1):312-5.
Cai L, Struk B, Adams MD, Ji W, Haaf T, Kang HL, Dho SH, Xu X, Ringpfeil F, Nancarrow J, Zäch S, Schaen L, Stumm M, Niu T, Chung J, Lunze K, Verrecchia B, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Lebwohl M, Uitto J, Richards R, Hohl D, Ramesar R. A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure. J Mol Med. 2000;78:36-46.
Choi GS, Kang DS, Chung JJ, Lee MG. Osteoma cutis coexisting with cutis laxa-like pseudoxanthoma elasticum. J Am Acad Dermatol. 2000;43(2 Pt 2):337-9.
Ekim M, Akar N, Tutar E, Kemahli S, Tümer N. Endothelin-1 and von Willebrand factor in pseudoxanthoma elasticum. Pediatr Nephrol. 2000;14:882-3.
Germain DP, Perdu J, Remones V, Jeunemaitre X. Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing. Biochem Biophys Res Commun. 2000;274:297-301.
Germain DP, Remones V, Perdu J, Jeunemaitre X. Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: possible sequence correction? Hum Mutat. 2000;16:449.
Hamamoto Y, Nagai K, Yasui H, Muto M. Hyperreactivity of pseudoxanthoma elasticum-affected dermis to vitamin D3. J Am Acad Dermatol. 2000;42:685-7.
Hermes B, Grützkau A, Hausser I, Kunze J, Henz BM. Preclinical diagnosis of pseudoxanthoma elasticum – methodological restrictions and ethical problems. Eur J Dermatol. 2000;10:513-6.
Hirata K, Kakazu M, Wake M, Kyushima M, Asato H, Tengan T, Mototake H, Henzan E. Acute aortic valvular regurgitation secondary to avulsion of aortic valve commissure in a patient with pseudoxanthoma elasticum. Intern Med. 2000;39:940-2.
Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet. 2000;25:223-7.
Luft FC. Pseudoxanthoma elasticum revealed. J Mol Med. 2000;78:237-8.
Manfredi M, Beltramello A, Mazzilli S, Magni E, Gandolfini M, Donati E. Stroke and pseudoxanthoma elasticum. Acta Neurol Belg. 2000;100:48-50.
Matsunaga T. Pseudoxanthoma elasticum(PXE). Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):546-9.
Nolte KB. Sudden cardiac death owing to pseudoxanthoma elasticum: a case report.Hum Pathol. 2000;31:1002-4.
Quaglino D, Boraldi F, Barbieri D, Croce A, Tiozzo R, Pasquali-Ronchetti I. Abnormal phenotype of in vitro dermal fibroblasts from patients with Pseudoxanthoma elasticum (PXE). Biochim Biophys Acta. 2000;1501:51-62.
Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci U S A. 2000;97:6001-6.
Ringpfeil F, Lebwohl MG, Uitto J. Abstracts: mutations in the MRP6 gene cause pseudoxanthoma elasticum J Invest Dermatol. 2000;115:332.
Rubegni P, Mondillo S, De Aloe G, Agricola E, Bardelli AM, Fimiani M. Mitral valve prolapse in healthy relatives of patients with familial Pseudoxanthoma elasticum. Am J Cardiol. 2000;85:1268-71.
Samarkos M, Aessopos A, Fragodimitri C, Karagiorga M, Kalotychou V, Voskaridou E, Kavouklis E, Loukopoulos D.Neutrophil elastase in patients with homozygous beta-thalassemia and pseudoxanthoma elasticum-like syndrome. Am J Hematol. 2000;63:63-7.
Struk B, Cai L, Zäch S, Ji W, Chung J, Lumsden A, Stumm M, Huber M, Schaen L, Kim CA, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Munier F, Ramesar R, Hohl D, Richards R, Neldner KH, Lindpaintner K. Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. J Mol Med. 2000;78:282-6.
Tajima S, Ohnishi Y, Akagi A, Sasaki T. Elastotic change in the subpapillary and mid-dermal layers in pseudoxanthoma elasticum-like papillary dermal elastolysis. Br J Dermatol. 2000;142:586-8.
Valenzano M, Corticelli A, Podestà M, Nicoletti L, Saffioti S, Derchi L. Pseudoxanthoma elasticum and pregnancy: a case report. Clin Exp Obstet Gynecol. 2000;27:215-7.
van den Berg JS, Hennekam RC, Cruysberg JR, Steijlen PM, Swart J, Tijmes N, Limburg M. Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum. Cerebrovasc Dis. 2000;10:315-9.
Vanslembrouck I, Schurgers M. Pseudoxanthoma elasticum. Acta Clin Belg. 2000;55:170-3.

1999

Bacchelli B, Quaglino D, Gheduzzi D, Taparelli F, Boraldi F, Trolli B, Le Saux O, Boyd CD, Pasquali-Ronchetti I.Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE). Mod Pathol. 1999;12:1112-23.
Bale SJ. Recent advances in gene mapping of skin diseases. Pseudoxanthoma elasticum: A satisfying sibling study. J Cutan Med Surg. 1999;3:154-6.
Bendjelid K.Pseudoxanthoma elasticum and coronary aneurysm. Arch Mal Coeur Vaiss. 1999;92:373-4.
Enta T, Adams SP. Pseudoxanthoma elasticum Can Fam Physician. 1999;45:2609, 2620.
Iglesia Puig MA, Puig Galy J, Bueno Gómez J, Arellano Cabornero A, López-Areal García B. Gronblad-Strandberg syndrome. An Med Interna. 1999;16:639-46.
Jokl DH, Tsai N, Kreps S. Detection of choroidal calcium by computed tomography scan quantitative computerized tomography: a clinically useful diagnostic tool. Ophthalmology. 1999;106:1841-6.
Le Saux O, Urban Z, Göring HH, Csiszar K, Pope FM, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl MG, Breuning M, van den Berg P, Kornet L, Doggett N, Ott J, de Jong PT, Bergen AA, Boyd CD. Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. Genomics. 1999;62:1-10. Erratum in: Genomics 2000;63:439.
Martignani A, Catena G, Scondotto G. Peripheral arteriopathy in pseudoxanthoma elasticum. Minerva Cardioangiol. 1999;47:577-8.
Ng AB, O’Sullivan ST, Sharpe DT. Plastic surgery and pseudoxanthoma elasticum. Br J Plast Surg. 1999;52:594-6.
Rafałowska J. Genetically determined vascular diseases.Folia Neuropathol. 1999;37:210-6.
Sakata K, Nakamura T, Tamekiyo H, Obayashi K, Ishikawa J, Nawada R, Yoshida H, Shirotani M. Pseudoxanthoma elasticum with dipyridamole-induced coronary artery spasm: a case report. Jpn Circ J. 1999;63:806-8.
Sarraj A, Al Homsi MF, Khouqeer F. Pseudoxanthoma elasticum of the internal mammary artery. Cardiovasc Surg. 1999;7:381-4.
Sherer DW, Sapadin AN, Lebwohl MG. Pseudoxanthoma elasticum: an update. Dermatology. 1999;199: 3-7.
Tsomi K, Karagiorga-Lagana M, Fragodimitri C, Karabatsos F, Katsiki V. Arterial elastorrhexis: manifestation of a generalized elastic tissue disorder in beta-thalassaemia major. Eur J Haematol. 1999;63:287-94.

1998

Aessopos A, Samarkos M, Voskaridou E, Papaioannou D, Tsironi M, Kavouklis E, Vaiopoulos G, Stamatelos G, Loukopoulos D. Arterial calcifications in beta-thalassemia. Angiology. 1998;49:137-43.
Amadeo A, Bertulezzi G, Civelli L, Porta C, Moroni M. Plasma and urinary endothelin-1 titers and plasma von Willebrand activity in Pseudoxanthoma elasticum. Haematologica. 1998;83:952-3.
Bennis A, Zahraoui M, Hmamouchi B, Tahiri A, Lakhdar H, Chraibi N. Cardiovascular manifestations of pseudoxanthoma elasticum. Apropos of 2 cases. Ann Med Interne (Paris). 1998;149:105-6.
Bertulezzi G, Paris R, Moroni M, Porta C, Nastasi G, Amadeo A. Atrial septal aneurysm in a patient with pseudoxanthoma elasticum. Acta Cardiol. 1998;53:223-5.
Chen TH, Wei FC. Pseudoxanthoma elasticum. Case report. Scand J Plast Reconstr Surg Hand Surg. 1998;32:421-4.
Coatesworth AP, Darnton SJ, Green RM, Cayton RM, Antonakopoulos GN. A case of systemic pseudo-pseudoxanthoma elasticum with diverse symptomatology caused by long-term penicillamine use. J Clin Pathol. 1998;51:169-71.
Ekim M, Tümer N, Atmaca L, Anadolu R, Salih M, Dönmez O, Ozkaya N. Pseudoxanthoma elasticum: a rare cause of hypertension in children. Pediatr Nephrol. 1998;12:183-5.
Iizuka H, Ishida-Yamamoto A. Pseudoxanthoma elasticum. Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):542-4.
Loche F, Raynal H, Bazex J. Acne-like eruption induced by pseudoxanthoma elasticum: effectiveness of liquid nitrogen cryotherapy. Eur J Dermatol. 1998;8:63-5.
Neri I, Marzaduri S, Bardazzi F, Patrizi A. Exogenous pseudoxanthoma elasticum: a new case in an old farmer. Acta Derm Venereol. 1998;78:153-4.
Ohnishi Y, Tajima S, Ishibashi A, Inazumi T, Sasaki T, Sakamoto H. Pseudoxanthoma elasticum-like papillary dermal elastolysis: report of four Japanese cases and an immunohistochemical study of elastin and fibrillin-1. Br J Dermatol. 1998;139:141-4.
Orlandi A, Bianchi L, Nini G, Spagnoli LG. Familial occurrence of pseudoxanthoma-elasticum-like papillary dermal elastolysis. J Eur Acad Dermatol Venereol. 1998;10:175-8.
Rühlmann C, Wittig I, Lochner A, Klötzer B, Wilke B, Mittag M, Pfeiffer D. Grönblad-Strandberg syndrome from the angiological viewpoint. Dtsch Med Wochenschr. 1998;123:312-7.
Sapadin AN, Lebwohl MG, Teich SA, Phelps RG, DiCostanzo D, Cohen SR. Periumbilical pseudoxanthoma elasticum associated with chronic renal failure and angioid streaks–apparent regression with hemodialysis. J Am Acad Dermatol. 1998;39(2 Pt 2):338-44.
Secrétan M, Zografos L, Guggisberg D, Piguet B. Chorioretinal vascular abnormalities associated with angioid streaks and pseudoxanthoma elasticum. Arch Ophthalmol. 1998;116:1333-6.
Smith LF, Russell-Eggitt I, Harper J. Familial pseudoxanthoma elasticum. Ophthalmic Genet. 1998;19:169-71.
Uitto J, Boyd CD, Lebwohl MG, Moshell AN, Rosenbloom J, Terry S. International Centennial Meeting on Pseudoxanthoma Elasticum: progress in PXE research. J Invest Dermatol. 1998;110:840-2.

1997

Aessopos A, Farmakis D, Karagiorga M, Rombos I, Loucopoulos D. Pseudoxanthoma elasticum lesions and cardiac complications as contributing factors for strokes in beta-thalassemia patients. Stroke. 1997;28:2421-4.
Cailleux N, Hachulla E, Perez-Cousin M, Labalette P, Lecomte-Houcke M. Pseudoxanthoma elasticum: a rare cause of leg artery diseases in young adults. J Mal Vasc. 1997;22:51-5.
Cheeseman EW Jr, Bidwell AE. Images in clinical medicine. Angioid streaks in pseudoxanthoma elasticum. N Engl J Med. 1997;337:828.
Cho SH, Cho BK, Kim CW. Milia en plaque associated with pseudoxanthoma elasticum. J Cutan Pathol. 1997;24:61-3.
Germain DP, Pope FM. Pathological case of the month. Pseudoxanthoma elasticum. Arch Pediatr Adolesc Med. 1997;151:97-8.
Gurwood AS, Mastrangelo DL. Understanding angioid streaks. J Am Optom Assoc. 1997;68:309-24. Erratum in: J Am Optom Assoc 1997;68:406.
Jacobi H, Schreiber G. Pseudoxanthoma elasticum. Skin changes as a marker of systemic illness. Hautarzt. 1997;48:191-4.
Kévorkian JP, Masquet C, Kural-Ménasché S, Le Dref O, Beaufils P. New report of severe coronary artery disease in an eighteen-year-old girl with pseudoxanthoma elasticum. Case report and review of the literature. Angiology. 1997;48:735-41.
Lobo FD, Pai RR, Pinto J, Pai GS. Peri-umbilical perforating pseudoxanthoma elasticum. J Indian Med Assoc. 1997;95:436.
Mancini AJ. Waardenburg syndrome type II in a Taiwanese woman with a family history of pseudoxanthoma elasticum. Int J Dermatol. 1997;36:933-5.
Rodríguez-Cuartero A, García-Vera E. Pseudoxanthoma elasticum: a study of urinary glycosaminoglycan levels in two cases. Br J Dermatol. 1997;137:473-4.
Struk B, Neldner KH, Rao VS, St Jean P, Lindpaintner K. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum Mol Genet. 1997;6:1823-8.
Uenishi T, Uchiyama M, Sugiura H, Danno K. Pseudoxanthoma elasticum with generalized cutaneous laxity. Arch Dermatol. 1997;133:664-6.
van Soest S, Swart J, Tijmes N, Sandkuijl LA, Rommers J, Bergen AA. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. Genome Res. 1997;7:830-4.
Vargas-Díez E, Peñas PF, Fraga J, Aragües M, García-Díez A. Pseudoxanthoma elasticum-like papillary dermal elastolysis. A report of two cases and review of the literature. Acta Derm Venereol. 1997;77:43-5.

1996

Baccarani Contri M, Boraldi F, Taparelli F, De Paepe A, Pasquali-Ronchetti I. Matrix proteins with high affinity for calcium ions are associated with mineralization within the elastic fibers of pseudoxanthoma elasticum dermis. Am J Pathol. 1996;148:569-77.
Cnudde F, Muller P, Hajjar C, Téron-Aboud B. Peusoxanthoma elasticum with multiple calcinosis and hyperphosphoremia. Ann Dermatol Venereol. 1996;123:563-6.
Domjan JM, Dewbury KC. Case report: multiple highly reflective foci in the renal parenchyma are not specific for pseudoxanthoma elasticum. Br J Radiol. 1996;69:871-2.
Hirano T, Hashimoto Y, Kimura K, Uchino M. Lacunar brain infarction in patients with pseudoxanthoma elasticum. Rinsho Shinkeigaku. 1996;36:633-9.
Karp DL, O’Neill MS, Haberman AL, Taylor RM. A yellow plaque with keratotic papules on the abdomen. Perforating calcific elastosis (periumbilical perforating pseudoxanthoma elasticum [PXE], localized acquired cutaneous PXE). Arch Dermatol. 1996;132:224-5, 227-8.
Le Corvaisier-Pieto C, Joly P, Thomine E, Lair G, Lauret P. Generalized pseudoxanthoma elasticum combined with vitamin K dependent clotting factors deficiency. Ann Dermatol Venereol. 1996;123:555-8.
Lee HW, Park MA, Lee SC, Won YH, Chun IK. A case of actinic granuloma associated with periumbilical perforating pseudoxanthoma elasticum. Acta Derm Venereol. 1996;76:133-5.
Li TH, Tseng CR, Hsiao GH, Chiu HC. An unusual cutaneous manifestation of pseudoxanthoma elasticum mimicking reticulate pigmentary disorders. Br J Dermatol. 1996;134:1157-9.
Nikko AP, Dunningan M, Cockerell CJ. Calciphylaxis with histologic changes of pseudoxanthoma elasticum. Am J Dermatopathol. 1996;18:396-9.
Passi A, Albertini R, Baccarani Contri M, de Luca G, de Paepe A, Pallavicini G, Pasquali-Ronchetti I, Tiozzo R. Proteoglycan alterations in skin fibroblast cultures from patients affected with pseudoxanthoma elasticum. Cell Biochem Funct. 1996;14:111-20.
Perrin C, Castanet J, Lacour JP, Michiels JF. White papulosis of the neck. Clinical aspects of pseudoxanthoma elasticum. Ann Dermatol Venereol. 1996;123:114-7.
Piccoli A, Ricciardi D, Santucci A, Barnaba V, Ferri C. Elevated levels of plasma endothelin-1, von Willebrand factor, and urinary albumin excretion in three relatives with pseudoxanthoma elasticum. Thromb Haemost. 1996;76:278-9.
Revenga Arranz F, Gamazo Carrasco M, Nevado López-Alegría L, Pimentel Leo J. Familial pseudoxanthoma elasticum. Rev Clin Esp. 1996;196:458-60.
Sakamoto K, Sanada J. Pseudoxanthoma elasticum. Ryoikibetsu Shokogun Shirizu. 1996;15:118-20.
Spinzi G, Strocchi E, Imperiali G, Sangiovanni A, Terruzzi V, Minoli G. Pseudoxanthoma elasticum: a rare cause of gastrointestinal bleeding. Am J Gastroenterol. 1996;91:1631-4.
Swart J, Tijmes NT. Pseudoxanthoma elasticum; etiology, diagnosis and therapy. Ned Tijdschr Geneeskd. 1996;140:954.
Truter S, Rosenbaum-Fiedler J, Sapadin A, Lebwohl M. Calcification of elastic fibers in pseudoxanthoma elasticum. Mt Sinai J Med. 1996;63:210-5.
Vegter F, Hage JJ, Bloemena E. Pseudoxanthoma elasticum; etiology, diagnosis and therapy. Ned Tijdschr Geneeskd. 1996;140:300-3.
Weenink AC, Dijkman G, de Meijer PH. Pseudoxanthoma elasticum and its complications: two case reports. Neth J Med. 1996 Jul;49(1):24-9
Yamamoto N, Hasegawa H, Sakamoto H, Numata H, Fukuda T, Komatsu S, Kido Y. Pseudoxanthoma elasticum with pulmonary calcification. Nihon Kyobu Shikkan Gakkai Zasshi. 1996;34:716-20.
Yoles A, Phelps R, Lebwohl M. Pseudoxanthoma elasticum and pregnancy. Cutis. 1996;58:161-4.

1995

Berteretche MV, Hornebeck W, Pellat B, Bardon CB, Godeau G. Histomorphometric parameters and susceptibility to neutrophil elastase degradation of skin elastic fibres from healthy individuals and patients with Marfan syndrome, Ehlers-Danlos type IV, and pseudoxanthoma elasticum. Br J Dermatol. 1995;133:836-41.
Godfrey M, Cisler J, Geerts ML, Christiano A, Uitto J, De Bie S, DePaepe A. Fibrillin imunofluorescence in pseudoxanthoma elasticum. J Am Acad Dermatol. 1995;32:589-94.
Hiragi T, Yoshikawa J, Okura H, Honda Y, Akasaka T. Pseudoxanthoma elasticum associated with unstable angina and Leriche syndrome: a case report. J Cardiol. 1995;26:43-9.
Jones AR, Florin TH. Deterioration of pseudoxanthoma elasticum in a patient with active Crohn’s disease. Aust N Z J Med. 1995;25:739.
Lebwohl M, Longas MO, Konstadt J, Koreen R, Grabowski GA, Phelps R, Lemlich G, Schwartz E. Hyaluronic acid and dermatan sulfate in non-lesional pseudoxanthoma elasticum skin. Clin Chim Acta. 1995;238:101-7.
Lommi J, Härkönen M. Pseudoxanthoma elasticum–a rare hereditary connective tissue disease. Duodecim. 1995;111:253-6.
Rebora A, Parodi A, Rongioletti F. Mid-dermal elastolysis and pseudoxanthoma elasticum-like papillary dermal elastolysis. Br J Dermatol. 1995;132:487.
Rongioletti F, Rebora A. Fibroelastolytic patterns of intrinsic skin aging: pseudoxanthoma-elasticum-like papillary dermal elastolysis and white fibrous papulosis of the neck. Dermatology. 1995;191:19-24.

1994

Aessopos A, Voskaridou E, Kavouklis E, Vassilopoulos G, Rombos Y, Gavriel L, Loukopoulos D. Angioid streaks in sickle-thalassemia. Am J Ophthalmol. 1994;117:589-92.
Alexopoulos D, Christodoulou J, Cokkinos DV, Vagenakis AG. Accelerated coronary artery disease in a young woman with pseudoxanthoma elasticum and elevated lipoprotein(a). Eur Heart J. 1994;15:1428-30.
Baccarani-Contri M, Vincenzi D, Cicchetti F, Mori G, Pasquali-Ronchetti I. Immunochemical identification of abnormal constituents in the dermis of pseudoxanthoma elasticum patients. Eur J Histochem. 1994;38:111-23.
el-Charif MA, Mousawi AM, Rubeiz NG, Kibbi AG. Pseudoxanthoma elasticum-like papillary dermal elastolysis: a report of two cases. J Cutan Pathol. 1994;21:252-5.
Fruhwirth H, Rabl H, Hauser H, Schmid C, Beham A, Klein GE. Endoscopic findings in pseudoxanthoma elasticum. Endoscopy. 1994;26:507.
Grossi EA, Pasternack P. Pseudoxanthoma elasticum. N Engl J Med. 1994;330:793.
Holz FG, Jubb C, Fitzke FW, Bird AC, Pope FM. Dark adaptation and scotopic perimetry over ‘peau d’orange’ in pseudoxanthoma elasticum. Br J Ophthalmol. 1994;78:79-80.
Iguro Y, Morishita Y, Shimokawa S, Toyohira H, Tamada S, Taira A. A case of pseudoxanthoma elasticum underwent coronary artery bypass grafting. Nippon Kyobu Geka Gakkai Zasshi. 1994;42:1977-80.
Lebwohl M, Neldner K, Pope FM, De Paepe A, Christiano AM, Boyd CD, Uitto J, McKusick VA. Classification of pseudoxanthoma elasticum: report of a consensus conference. J Am Acad Dermatol. 1994;30:103-7.
Patrizi A, Neri I, Trevisi P, Varotti C. Pseudoxanthoma-elasticum-like papillary dermal elastolysis: another case. Dermatology. 1994;189:289-91.
Pierro L, Brancato R, Minicucci M, Pece A. Echographic diagnosis of Drusen of the optic nerve head in patients with angioid streaks. Ophthalmologica. 1994;208:239-42.
Pirard C, Delbrouck-Poot F, Bourlond A. Pseudoxanthoma-elasticum-like papillary dermal elastolysis: a new case. Dermatology. 1994;189:193-5.
Raybould MC, Birley AJ, Moss C, Hultén M, McKeown CM. Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family. Clin Genet. 1994;45:48-51.
Sakuraoka K, Tajima S, Nishikawa T, Seyama Y. Biochemical analyses of macromolecular matrix components in patients with pseudoxanthoma elasticum. J Dermatol. 1994;21:98-101.
Sato K, Ikeda T. Fluorescein angiographic features of neovascular maculopathy in angioid streaks. Jpn J Ophthalmol. 1994;38:417-22.
Schievink WI, Michels VV, Piepgras DG. Neurovascular manifestations of heritable connective tissue disorders. A review. Stroke. 1994;25:889-903.
Yeowell HN, Marshall MK, Walker LC, Ha V, Pinnell SR. Regulation of lysyl oxidase mRNA in dermal fibroblasts from normal donors and patients with inherited connective tissue disorders. Arch Biochem Biophys. 1994;308:299-305.

1993

Baccarani Contri M, Tiozzo R, Croce MA, Andreoli T, De Paepe A. Cell-matrix interactions in cultured dermal fibroblasts from patients with an inherited connective-tissue disorder. Cytotechnology. 1993;11 Suppl 1:S112-4.
Coupe RL. Pseudoxanthoma elasticum-like papillary dermal elastolysis. J Am Acad Dermatol. 1993;28(2 Pt 1):282-3.
Erden A, Dumanli H, Yardimci C, Erden I, Aytaç S. Ultrasound and color flow Doppler manifestations of pseudoxanthoma elasticum. J Clin Ultrasound. 1993 Jul-Aug;21(6):396-8. No abstract available.
Hacker SM, Ramos-Caro FA, Beers BB, Flowers FP. Juvenile pseudoxanthoma elasticum: recognition and management. Pediatr Dermatol. 1993;10:19-25.
Kim DD, Pulido JS, Wipplinger WA. Indocyanine green angiographic findings in pseudoxanthoma elasticum. Am J Ophthalmol. 1993;116:767-9.
Lebwohl M, Halperin J, Phelps RG. Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease. N Engl J Med. 1993;329:1237-9.
Lebwohl M, Schwartz E, Lemlich G, Lovelace O, Shaikh-Bahai F, Fleischmajer R. Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum. Arch Dermatol Res. 1993;285(3):121-6.
Lebwohl M. Images in clinical medicine. Pseudoxanthoma elasticum. N Engl J Med. 1993;329:1240.
Mansat-Krzyzanowska E, Sagot P, Le Neel N, Stalder JF. Pseudoxanthoma elasticum and pregnancy. Ann Dermatol Venereol. 1993;120:391-4.
Menage P, Machet MC, Machet L, Ruchoux MM, de Toffol B, Autret A. Peripheral neuropathy, calcifications of central grey nuclei and pseudoxanthoma elasticum. Ann Med Interne (Paris). 1993;144:290-1.
Perrot LJ, Mrak RE. Cardiac involvement in a child with unsuspected pseudoxanthoma elasticum. Pediatr Pathol. 1993;13:273-9.
Rosenzweig BP, Guarneri E, Kronzon I. Echocardiographic manifestations in a patient with pseudoxanthoma elasticum. Ann Intern Med. 1993;119:487-90.
Satoh M, Akizuki M, Hama N, Akama H, Matsushita Y, Kawai S, Fukuda T, Homma M. Rheumatoid arthritis in a patient with pseudoxanthoma elasticum. Intern Med. 1993;32:508-9.
Takaro TK, Coodley GO. Pentoxifylline for ischemic pain in pseudoxanthoma elasticum. West J Med. 1993;159:689-90.
Wako K, Nakayama S, Taniguchi A, Naito Y, Kuzuhara S. A case of pseudoxanthoma elasticum associated with asymptomatic multiple cerebral infarction, hypothyroidism, glucose tolerance abnormality and multiple congenital anomalies. Rinsho Shinkeigaku. 1993;33:759-64.

1992

Aessopos A, Savvides P, Stamatelos G, Rombos I, Tassiopoulos T, Karagiorga M, Kaklamanis P, Fessas P. Pseudoxanthoma elasticum-like skin lesions and angioid streaks in beta-thalassemia. Am J Hematol. 1992;41:159-64.
Bolognia JL, Braverman I. Pseudoxanthoma-elasticum-like skin changes induced by penicillamine. Dermatology. 1992;184:12-8.
Bonotto G, Tonetto F, Baraglia E, Battistioli M, Fabi F, Arrigoni M, Spolaore R. Pseudoxanthoma elasticum. A rare cause of upper digestive hemorrhage. Minerva Chir. 1992;47:1641-5.
Boudghène-Stambouli O, Mérad-Boudia A, Moulonguet-Michau I, Aliane MA, Civatte J. Pseudoxanthoma elasticum and perforating elastoma. Ann Dermatol Venereol. 1992;119:201-3.
Christiano AM, Lebwohl MG, Boyd CD, Uitto J. Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10,1992. J Invest Dermatol. 1992;99:660-3.
Crespi G, Derchi LE, Saffioti S. Sonographic detection of renal changes in pseudoxanthoma elasticum. Urol Radiol. 1992;13:223-5.
Fernández Vozmediano JM, Alonso Blasi N, Alonso Trujillo F, Romero Cabrera MA, Gomez Salvador S, Fernandez-Repeto y Valls A. Pseudoxanthoma elasticum. A X-ray microanalytic study. Ann Dermatol Venereol. 1992;119:197-200.
Fukuda K, Uno K, Fujii T, Mukai M, Handa S. Mitral stenosis in pseudoxanthoma elasticum. Chest. 1992;101:1706-7.
Gomolin JE. Development of angioid streaks in association with pseudoxanthoma elasticum. Can J Ophthalmol. 1992;27:30-1.
Hodson EM, Antico VF, O’Neill P. Hypertension associated with diffuse small artery calcification: a case report. Pediatr Nephrol. 1992;6:556-8.
Liedholm LJ, Duchek M, Mönestam E. Pseudoxanthoma elasticum–unusual cause of stroke and eye complications. Lakartidningen. 1992;89:2521-3.
Machet L, Vaillant L, Machet MC, Esteve E, De Muret A, Khallouf R, Arbeille B, Muller C, Lorette G. Schnitzler’s syndrome (urticaria and macroglobulinemia) associated with pseudoxanthoma elasticum. Acta Derm Venereol. 1992;72:22-4.
Narron GH, Zec N, Neves RI, Manders EK, Sexton FM Jr. Penicillamine-induced pseudoxanthoma elasticum-like skin changes requiring rhytidectomy. Ann Plast Surg. 1992;29:367-70.
Pruzan D, Rabbin PE, Heilman ER. Periumbilical perforating pseudoxanthoma elasticum. J Am Acad Dermatol. 1992;26:642-4.
Rodríguez-Camarero SJ, Manchado P, González JA, Castro MA, Rodero JI, Mateo AM. Acute arterial thrombosis of the extremity in pseudoxanthoma elasticum. Angiologia. 1992;44:58-61.
Rongioletti F, Rebora A. Pseudoxanthoma elasticum-like papillary dermal elastolysis.J Am Acad Dermatol. 1992;26:648-50.
Sachiyama T, Anan R, Maeda M, Shimizu K, Arima S, Nakao S, Tanaka H, Ihan N, Takemoto M, Otsuka S. A case of pseudoxanthoma elasticum with severe coronary lesion treated with coronary bypass surgery. Nippon Naika Gakkai Zasshi. 1992;81:1703-5.
Schäfer U, Thiem P, Kolde G, Barenbrock M, Zidek W. Pseudoxanthoma elasticum. Clinically typical but frequently overlooked. Dtsch Med Wochenschr. 1992;117:1479-84.
von Dach B, Neuweiler J, Haller U. Differential diagnosis of breast tumors with eczematous breast changes: two rare cases. Helv Chir Acta. 1992;59:217-20.
Yap EY, Gleaton MS, Buettner H. Visual loss associated with pseudoxanthoma elasticum. Retina. 1992;12:315-9.

1991

Alabi GO, George AO, Lekwauwa UG, Falope ZP. Pseudoxanthoma elasticum in Nigeria. Int J Dermatol. 1991;30:377-9.
Albertyn LE, Drew AC. Mammographically detected microcalcifications due to pseudoxanthoma elasticum. Australas Radiol. 1991;35:81-2.
Albrecht S, From L, Kahn HJ. Lysozyme in abnormal dermal elastic fibers of cutaneous aging, solar elastosis and pseudoxanthoma elasticum. J Cutan Pathol. 1991;18:75-80.
Bao LL, Yang JS, Xiao J, Guo ZT. Pseudoxanthoma elasticum. A report of 5 cases in one family. Chin Med J (Engl). 1991;104:237-43.
Baratte I, Schaal JP, Laurent R. Pseudoxanthoma elasticum in pregnancy. Rev Fr Gynecol Obstet. 1991;86:243-5.
Coleman K, Ross MH, Mc Cabe M, Coleman R, Mooney D. Disk drusen and angioid streaks in pseudoxanthoma elasticum. Am J Ophthalmol. 1991;112:166-70.
De Paepe A, Viljoen D, Matton M, Beighton P, Lenaerts V, Vossaert K, De Bie S, Voet D, De Laey JJ, Kint A. Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families. Am J Med Genet. 1991;38:16-20.
Fäh L. Pseudoxanthoma elasticum–a visual diagnosis. Schweiz Med Wochenschr. 1991;121:660-3.
Goldstein BG, Lesher JL Jr. Periumbilical pseudoxanthoma elasticum with systemic manifestations. South Med J. 1991;84:788-9.
Harikrishnan S, Das T, Namperumalsamy P. Groenblad Strandberg syndrome–a case report. Indian J Ophthalmol. 1991;39:74-5.
Hausser I, Anton-Lamprecht I. Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk. Hum Genet. 1991;87:693-700.
Hintner H, Breathnach SM, Dahlbäck K, Dahlbäck B, Fritsch P. Vitronectin in normal human skin and in skin lesions. Hautarzt. 1991;42:16-22.
Katagiri K, Fujiwara S, Shinkai H, Takayasu S. Heterogeneity of clinical features of pseudoxanthoma elasticum: analysis of thirteen cases in Oita Prefecture from a population of 1,240,000. J Dermatol. 1991;18:211-7.
Lawrence JA. Pseudoxanthoma elasticum and angioid streaks of the retina in a patient with “slow channel syndrome”. Muscle Nerve. 1991;14:1036.
Mainetti C, Masouyé I, Saurat JH. Pseudoxanthoma elasticum-like lesions in the L-tryptophan-induced eosinophilia-myalgia syndrome. J Am Acad Dermatol. 1991;24:657-8.
Mainetti C, Schmied E, Masouyé I, Chavaz P, Saurat JH. L-tryptophan-induced eosinophilia-myalgia syndrome. I. Report of two cases with pseudoxanthoma-elasticum-like skin changes. Dermatologica. 1991;183:57-61.
Nogita T, Maeguchi M, Kawashima M, Hidano A. An unusual presentation of pseudoxanthoma elasticum with multiple comedones on the neck. Br J Dermatol. 1991;124:612.
Schultz PN, Sobol WM. Angioid streaks and pseudoxanthoma elasticum. JAMA. 1991;265:45.
Schwartz E, Thieberg M, Cruickshank FA, Lebwohl M. Elastase digestion of normal and pseudoxanthoma elasticum lesional skin elastins. Exp Mol Pathol. 1991;55:190-5.
Suarez MJ, Garcia JB, Orense M, Raimunde E, Lopez MV, Fernandez O. Sonographic aspects of pseudoxanthoma elasticum. Pediatr Radiol. 1991;21:538-9.
Torrington M, Viljoen DL. Founder effect in 20 Afrikaner kindreds with pseudoxanthoma elasticum. S Afr Med J. 1991;79:7-11.
Yamamura H, Hiraide A, Tabuse H, Yamamoto H, Sugimoto H, Yoshioka T, Sugimoto T. A case report of pseudoxanthoma elasticum with upper gastrointestinal hemorrhage. Nippon Geka Gakkai Zasshi. 1991;92:1027-30.

1990

Bourgault I, Cosnes A, Revuz J. Pseudoxanthoma elasticum. Ann Dermatol Venereol. 1990;117:133-7.
Dalziel KL, Burge SM, Frith PA, Ryan TJ, Mowat A. Elastic fibre damage induced by low-dose D-penicillamine. Br J Dermatol. 1990123:305-12.
Fartasch M, Haneke E, Hornstein OP. Mineralization of collagen and elastic fibers in superficial dystrophic cutaneous calcification: an ultrastructural study. 1990;181:187-92.
Klingel R, Poralla T, Dippold W, Meyer zum Büschenfelde KH. Pseudoxanthoma elasticum (Grönblad-Strandberg syndrome) and rheumatoid arthritis. Dtsch Med Wochenschr. 1990;115:1911-6.
Nishida H, Endo M, Koyanagi H, Ichihara T, Takao A, Maruyama M. Coronary artery bypass in a 15-year-old girl with pseudoxanthoma elasticum. Ann Thorac Surg. 1990;49:483-5.
Pisani M, Rossi A, Uzzauto MT, Rinaldi E, Savastano S, Napolitano S. Mottled hyperpigmentation of the fundus oculi associated with angioid streaks in pseudoxanthoma elasticum. G Ital Dermatol Venereol. 1990;125:569-74.
Rossi A, Uzzauto MT. Pseudoxanthoma elasticum associated with endocrine disorders, renal and adrenal cystic dysplasia, sensorineural hearing loss and mental disorders. G Ital Dermatol Venereol. 1990;125:593-9.
Schwartz E, Cruickshank FA, Lebwohl M. Determination of desmosines in elastin-related skin disorders by isocratic high-performance liquid chromatography. Exp Mol Pathol. 1990;52:63-8.
Slade AK, John RM, Swanton RH. Pseudoxanthoma elasticum presenting with myocardial infarction. Br Heart J. 1990;63:372-3.
Toporcer MB, Kantor GR. Periumbilical hyperpigmented plaque. Periumbilical perforating pseudoxanthoma elasticum (PPPXE). Arch Dermatol. 1990;126:1639, 1642.
Viljoen DL, Bloch C, Beighton P. Plastic surgery in pseudoxanthoma elasticum: experience in nine patients. Plast Reconstr Surg. 1990;85:233-8.
Zürcher M, Schipper I. Spot-like to reticular pigment displacement in a patient with pseudoxanthoma elasticum (Grönblad-Strandberg syndrome). Klin Monatsbl Augenheilkd. 1990;196:30-2.

1989

Aesopos A, Stamatelos G, Savvides P, Rombos I, Tassiopoulos T, Kaklamanis P. Pseudoxanthoma elasticum and angioid streaks in two cases of beta-thalassaemia.Clin Rheumatol. 1989;8:522-7.
Bordat B, Auch-Roy-Mainguy S, Boudet C, Navarre L. Gronblad-Strandberg syndrome: association of angioid streaks and an elastic pseudoxanthoma (apropos of a case in a 20-year-old young woman). Bull Soc Ophtalmol Fr. 1989;89:463-7.
Chalk JB, Patterson MC, Pender MP. An intracranial arteriovenous malformation and palatal myoclonus related to pseudoxanthoma elasticum. Aust N Z J Med. 1989;19:141-3.
Davis AL, Wojnarowska FT, Frith P. Pseudoxanthoma elasticum presenting with blindness.J R Soc Med. 1989;82:627-8.
Guivarch P, Florent C, Desaint B, Tubiana JM, Merland JJ, Levy VG. Upper digestive hemorrhage in pseudoxanthoma elasticum. Treatment by arterial embolization. Gastroenterol Clin Biol. 1989;13:432-4.
Hamada M, Fukuda K, Handa S, Abe S, Hasegawa N, Ogawa S, Nakamura Y. A case of pseudoxanthoma elasticum with coronary invasion manifested with unstable angina. Nippon Naika Gakkai Zasshi. 1989;78:54-8.
Hemmati M, Rosengarten J, Hier DB. MR imaging in pseudoxanthoma elasticum.AJNR Am J Neuroradiol. 1989;10(5 Suppl):S60.
McCreedy CA, Zimmerman TJ, Webster SF. Management of upper gastrointestinal hemorrhage in patients with pseudoxanthoma elasticum. Surgery. 1989;105:170-4.
Rongioletti F, Bertamino R, Rebora A. Generalized pseudoxanthoma elasticum with deficiency of vitamin K-dependent clotting factors. J Am Acad Dermatol. 1989;21:1150-2.
Sahn EE, Maize JC, Garen PD, Mullins SC, Silver RM. D-penicillamine-induced elastosis perforans serpiginosa in a child with juvenile rheumatoid arthritis. Report of a case and review of the literature. J Am Acad Dermatol. 1989;20:979-88.
Sharif KW, Doig WM, Kinsella FP. Visual impairment in a case of juvenile Paget’s disease with pseudoxanthoma elasticum: an eleven year follow up.J Pediatr Ophthalmol Strabismus. 1989;26:299-302.
Walker ER, Frederickson RG, Mayes MD. The mineralization of elastic fibers and alterations of extracellular matrix in pseudoxanthoma elasticum. Ultrastructure, immunocytochemistry, and X-ray analysis. Arch Dermatol. 1989;125:70-6

1988

Belli A, Cawthorne S. Visceral angiographic findings in pseudoxanthoma elasticum. Br J Radiol. 1988;61:368-71.
Brown R, Raines MF. The blood-retinal barrier in angioid streaks. Eye. 1988;2:547-51.
Burge S, Ryan T. Penicillamine-induced pseudo-pseudoxanthoma elasticum in a patient with rheumatoid arthritis. Clin Exp Dermatol. 1988;13:255-8.
Challenor VF, Conway N, Monro JL. The surgical treatment of restrictive cardiomyopathy in pseudoxanthoma elasticum. Br Heart J. 1988;59:266-9.
Dahlbäck K, Löfberg H, Dahlbäck B. Immunohistochemical studies on vitronectin in elastic tissue disorders, cutaneous amyloidosis, lichen ruber planus and porphyria.Acta Derm Venereol. 1988;68:107-15.
Fang ML, Astarita RW, Steinman HK. Cardiac calcifications and yellow papules in a young man. Pseudoxanthoma elasticum (PXE). Arch Dermatol. 1988;124:1560-1, 1563-4.
Jacyk WK, Lodder JV, Dreyer L. Pseudoxanthoma elasticum in South African black patients. A report on 7 cases. S Afr Med J. 1988;74:184-6.
Johnson BW, Oshinskie L. Diagnosis and management of angioid streaks. J Am Optom Assoc. 1988;59:704-11.
Kanzaki T, Matsuno T, Kamimura K, Miyazawa S, Nishiyama S. Trace element analyses in pseudoxanthoma elasticum. J Dermatol. 1988;15:99-103.
Kazakis AM, Parish WR. Periumbilical perforating pseudoxanthoma elasticum. J Am Acad Dermatol. 1988;19:384-8.
Kundrotas L, Novak J, Kremzier J, Meenaghan M, Hassett J. Gastric bleeding in pseudoxanthoma elasticum. Am J Gastroenterol. 1988;83:868-72.
McDonald HR, Schatz H, Aaberg TM. Reticular-like pigmentary patterns in pseudoxanthoma elasticum. Ophthalmology. 1988;95:306-11.
Neldner KH. Pseudoxanthoma elasticum. Clin Dermatol. 1988;6:1-159.
Neldner KH. Pseudoxanthoma elasticum. Int J Dermatol. 1988;27:98-100.
Polishchuk SI. Darier’s pseudoxanthoma elasticum. Vestn Dermatol Venerol. 1988;8:61-3.
Schwartz E, Cruickshank FA, Lebwohl MG. Elastase-like protease and elastolytic activities expressed in cultured dermal fibroblasts derived from lesional skin of patients with pseudoxanthoma elasticum, actinic elastosis, and cutis laxa. Clin Chim Acta. 1988;176:219-24.
Tiozzo Costa R, Baccarani Contri M, Cingi MR, Pasquali-Ronchetti I, Salvini R, Rindi S, De Luca G. Pseudoxanthoma elasticum (PXE): ultrastructural and biochemical study on proteoglycan and proteoglycan-associated material produced by skin fibroblasts in vitro.Coll Relat Res. 1988 Jan;8(1):49-64.
Viljoen D. Pseudoxanthoma elasticum (Grönblad-Strandberg syndrome). J Med Genet. 1988;25:488-90.

1987

Francès C, Emilie D, Wechsler B, Wechsler J, Boisnic S, Le Hoang P, Kieffer E, Godeau P. Diffuse disease of elastic tissue and hyperphosphoremia. Ann Dermatol Venereol. 1987;114:359-67.
Giuffrè G. The pathogenesis of the fundus peau d’orange and salmon spots.Metab Pediatr Syst Ophthalmol. 1987;10:95-8.
Grand MG, Isserman MJ, Miller CW. Angioid streaks associated with pseudoxanthoma elasticum in a 13-year-old patient. 1987;94:197-200.
Gresser U, Stautner-Brückmann C, Zoller WG. Kidney involvement in pseudoxanthoma elasticum–sonography shows early calcinosis of the kidney parenchyma. 1987-1989;56:179-80.
Korn S, Seilnacht J, Huth C, Feller AM. Cardiovascular manifestations of pseudoxanthoma elasticum (Grönblad-Strandberg syndrome). Thorac Cardiovasc Surg. 1987;35:191-4.
Lebwohl M, Phelps RG, Yannuzzi L, Chang S, Schwartz I, Fuchs W. Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions. N Engl J Med. 1987;317:347-50.
Lods F, Ortonne P, Dumas I. Pseudoxanthoma elasticum and streaked multicolored fundus oculi. Bull Soc Ophtalmol Fr. 1987;87:495-7.
Maeda Y, Uchiyama S, Soma Y, Aikawa T, Kobayashi I, Maruyama S. A case of pseudoxanthoma elasticum showing various heteroptics due to infarction of right parieto-occipital lobe. No To Shinkei. 1987;39:251-6.
Mallette LE, Mechanick JI. Heritable syndrome of pseudoxanthoma elasticum with abnormal phosphorus and vitamin D metabolism. Am J Med. 1987;83:1157-62.
Matis WL, Kurban R, Skouge JW, Jerdan MS. Generalized eruption in a patient with pseudoxanthoma elasticum. Arch Dermatol. 1987;123:1707-8, 1710-2.
Medrano López M, Arderiu Freixa A, Ruiz Moreno JM. Importance of examination of the fundus oculi in the diagnosis of pseudoxanthoma elasticum. Med Clin (Barc). 1987;89:845.
Mesnard B, Bonnière P, Gérard A, Colombel JF, Cortot A, Paris JC.Digestive hemorrhage disclosing systemic elastorrhexia. Gastroenterol Clin Biol. 1987;11:526-7.
Milot JA, Noël LP, Lemieux N, Richer CL. Ocular and cytogenetic findings in three new cases of trisomy 9p. Metab Pediatr Syst Ophthalmol. 1987;10:89-94.
Popescu MP. Presence of choroidal neovascular membranes in pseudoxanthoma elasticum. Rev Chir Oncol Radiol O R L Oftalmol Stomatol Ser Oftalmol. 1987;31:219-20.
Praderio L, Marianj F, Baldini V. Pseudoxanthoma elasticum and rheumatoid arthritis. Arch Intern Med. 1987;147:206-7.
Sane DC, Vidaillet HJ Jr, Burton CS 3rd. Pitfalls of chest pain. Pseudoxanthoma elasticum. Chest. 1987;91:134-5.
Somasundaram V, Premalatha S, Rao NR, Abdul Razack EM, Zahra A. Periumbilical perforating pseudoxanthoma elasticum. Int J Dermatol. 1987;26:536-7.
Viljoen DL, Beatty S, Beighton P. The obstetric and gynaecological implications of pseudoxanthoma elasticum. Br J Obstet Gynaecol. 1987;94:884-8.
Viljoen DL, Pope FM, Beighton P. Heterogeneity of pseudoxanthoma elasticum: delineation of a new form? Clin Genet. 1987;32:100-5.

1986

Araki Y, Imai S, Saitoh A, Ito T, Shimizu K, Yamada H. A case of carotid rete mirabile associated with pseudoxanthoma elasticum: a case report. No To Shinkei. 1986; 38:495-500.
Cassinelli A, Macedo NA, Carlevaro A, Nicola M. Pseudoxanthoma elasticum. Med Cutan Ibero Lat Am. 1986;14(5):311-8.
Garg SC, Singh N. Groenblad Strandberg syndrome. J Assoc Physicians India. 1986;34:671.
Grochowska K. 2 cases of pseudoxanthoma elasticum with hypofunction of T lymphocytes and granulocytes. Przegl Dermatol. 1986;73:486-90.
Heaton JP, Wilson JW. Pseudoxanthoma elasticum and its urological implications.J Urol. 1986;135:776-7.
Light N, Meyrick Thomas RH, Stephens A, Kirby JD, Fryer PR, Avery NC. Collagen and elastin changes in D-penicillamine-induced pseudoxanthoma elasticum-like skin. Br J Dermatol. 1986;114:381-8.
Longas MO, Wisch P, Lebwohl MG, Fleischmajer R. Glycosaminoglycans of skin and urine in pseudoxanthoma elasticum: evidence for chondroitin 6-sulfate alteration. Clin Chim Acta. 1986;155:227-36
Pasquali-Ronchetti I, Baccarani Contri M, Pincelli C, Bertazzoni GM. Effect of selective enzymatic digestions on skin biopsies from pseudoxanthoma elasticum: an ultrastructural study. Arch Dermatol Res. 1986;278:386-92.
Puvaneswary M. Pulmonary radiographic changes in pseudoxanthoma elasticum.Australas Radiol. 1986;30:310-2.
Sebök B, Zombai E, Kiss A. Pseudoxanthoma elasticum. Orv Hetil. 1986;127:77-80.
Tahara Y, Inaba S, Horikawa Y, Nishimura I, Honbo Y, Osamura Y, Kouya M,Uezuka Y, Sekiguchi M. A case of pseudoxanthoma elasticum associated with myocardial infarction which revealed the absence of significant narrowing of the coronary artery. Kokyu To Junkan. 1986;34:905-10.

1985

Antignac C, Gubler MC, Garel L, Dechaux M, Lenoir G, Habib R, Broyer M. Diffuse arterial calcified elastopathy. Arch Mal Coeur Vaiss. 1985;78:1701-5.
Bentley-Phillips B. Pseudoxanthoma elasticum-like skin changes induced by penicillamine. J R Soc Med. 1985;78:787.
Black AS, Kanat IO. A review of soft tissue calcifications.J Foot Surg. 1985;24:243-50.
Brophy MC, Dunagin WG. Intertriginous dermatoses. Common puzzling problems. Postgrad Med. 1985;78:105-12, 115-7.
Divanian RS.A case of familial pseudoxanthoma elasticum. Vestn Dermatol Venerol. 1985;10:62-3.
Gubler MC, Antignac C, Broyer M, Garel L, Lenoir G, Niaudet P, Dechaux M,Habib R. Diffuse arterial calcified elastopathy–a new cause of renovascular hypertension in children. Int J Pediatr Nephrol. 1985;6:47-54.
Lippman SM, Abergel RP, Ginzton LE, Uitto J, Tanaka KR, Miyamoto EK, Laks MM. Mitral valve prolapse in sickle cell disease: manifestation of a generalized connective tissue disorder.Am J Hematol. 1985;19:1-12.
Meyrick Thomas RH, Kirby JD. Elastosis perforans serpiginosa and pseudoxanthoma elasticum-like skin change due to D-penicillamine.Clin Exp Dermatol. 1985;10:386-91.
Nickoloff BJ, Noodleman FR, Abel EA. Perforating pseudoxanthoma elasticum associated with chronic renal failure and hemodialysis.Arch Dermatol. 1985;121:1321-2.
Pearson RW. Histopathologic and ultrastructural findings in certain genodermatoses. Clin Dermatol. 1985;3:143-74.
Pernot C. Aortic and valvular lesions in pseudoxanthoma elasticum. Arch Fr Pediatr. 1985 Jan;42(1):63.
Stutz SB, Schnyder UW, Vogel A. Clinical aspects and genetics of pseudoxanthoma elasticum. Hautarzt. 1985;36:265-8.
Tassignon MJ, Merckaert I, De Coninck A, Cornelis MT. Treatment of choroidal neovascular membranes in a case of pseudoxanthoma elasticum. Bull Soc Belge Ophtalmol. 1985;214:107-12.
Tsuchioka Y, Doi M, Fujii H, Sakura E, Hashimoto M, Sueda T, Yuasa A, Matsuura H, Kajiyama G, Kajihara H. A case of Grönblad-Strandberg syndrome with coronary artery disease. Nippon Naika Gakkai Zasshi. 1985;74:1739-44.
Vogel A, Schnyder UW, Stutz SB. Light and electron microscopy of pseudoxanthoma elasticum. Hautarzt. 1985;36:269-73.
Woo TY, Rasmussen JE. Disorders of transepidermal elimination. Part 2.Int J Dermatol. 1985;24:337-48.

1984

Broekhuizen FF, Hamilton PR. Pseudoxanthoma elasticum and intrauterine growth retardation. Am J Obstet Gynecol. 1984;148:112-4.
Elejalde BR, de Elejalde MM, Samter T, Burgess J, Lombardi J, Gilbert EF. Manifestations of pseudoxanthoma elasticum during pregnancy: a case report and review of the literature. Am J Med Genet. 1984;18:755-62.
Fasshauer K, Reimers CD, Gnau HJ, Strempel I, Rossberg C. Neurological complications of Grönblad-Strandberg syndrome. J Neurol. 1984;231:250-2.
Fournier D. Pseudoxanthoma elasticum a little known syndrome. Clinical and genetic aspects of a case. Schweiz Rundsch Med Prax. 1984;73:183-91.
Golovchenko DIa, Lober ND, Bondareva GS, Fedorenko AE. Grönblad-Strandberg syndrome. Vestn Dermatol Venerol. 1984;5:52-3.
Hsu CT, Fan RL, Cheng TC. Recurrent gastrointestinal bleeding: an unusual cause–pseudoxanthoma elasticum. Taiwan Yi Xue Hui Za Zhi. 1984;83:499-506.
Irani C, Dagonet Y, Casasoprana A, Ribierre M. Pseudoxanthoma elasticum with aortic insufficiency and arterial hypertension in a 12-year-old boy. Arch Fr Pediatr. 1984;41:337-9.
Lao TT, Walters BN, de Swiet M. Pseudoxanthoma elasticum and pregnancy. Two case reports. Br J Obstet Gynaecol. 1984;91:1049-50.
Meyrick Thomas RH, Light N, Stephens AD, Avery NC, Kirby JD. Pseudoxanthoma elasticum-like skin changes induced by penicillamine. J R Soc Med. 1984;77:794-8.
Müller-Bühl U, Diehm C, Mörl H, Gallasch G, Bersch A. Arterial circulatory disorders of the legs in pseudoxanthoma elasticum. Grönblad-Strandberg syndrome. Internist (Berl). 1984;25:375-8.
Müller-Bühl U, Rosenau H, Diehm C, Mörl H. Incidence and clinical relevance of cardiovascular complications of pseudoxanthoma elasticum (Grönblad-Strandberg syndrome). 1984;13:4-10.
Pierard GE. Pseudoxanthoma elasticum. Morphological and biomechanical study of dominant type 1 and recessive type 2 forms. Ann Dermatol Venereol. 1984;111:111-6.
Renie WA, Pyeritz RE, Combs J, Fine SL. Pseudoxanthoma elasticum: high calcium intake in early life correlates with severity. Am J Med Genet. 1984;19:235-44.
Schneider T, Apel HP, Kuhlwein A, Mensing H, Schaeg G. Groenblad-Strandberg syndrome. Z Hautkr. 1984;59:1290-2, 1297-300.
Tsuji T. Three-dimensional architecture of altered dermal elastic fibers in pseudoxanthoma elasticum: scanning electron microscopic studies. J Invest Dermatol. 1984;82:518-21.
Viljoen DL, Beighton P, Mabin T, Woods K, Saxe N, Bonafede P. Pseudoxanthoma elasticum in South Africa–genetic and clinical implications. S Afr Med J. 1984;66:813-6.
Yamamura T, Sano S. Ultrastructural and histochemical analysis of thready material in Pseudoxanthoma elasticum. J Cutan Pathol. 1984;11:282-91.

1983

Berde C, Willis DC, Sandberg EC. Pregnancy in women with pseudoxanthoma elasticum. Obstet Gynecol Surv. 1983;38:339-44.
Bork K. Pseudoxanthoma elasticum in pregnancy: effects on mother and child. Hautarzt. 1983;34:77-80.
Cochran RJ, Wilkin JK. An unusual case of calcinosis cutis. J Am Acad Dermatol. 1983;8:103-6.
Corsi FM, Falchi N, Galgani S, Panzera MA, Piazza G. Pseudoxanthoma elasticum and painful ophthalmoplegia of the Tolosa-Hunt type. Riv Neurobiol. 1983;29:553-8.
Di Matteo J, Heulin A, Jaubert F, Delage F. Cardiovascular manifestations of systemic elastorrhexis (the Grönblad-Strandberg-Touraine syndrome). Ann Med Interne (Paris). 1983;134:470-4.
Erkkilä H, Raitta C, Niemi KM. Ocular findings in four siblings with pseudoxanthoma elasticum. Acta Ophthalmol (Copenh). 1983;61:589-99.
Gordon SG, Hinkle LL, Shaw E. Cysteine protease characteristics of the proteoglycanase activity from normal and pseudoxanthoma elasticum (PXE) fibroblasts. J Lab Clin Med. 1983;102:400-10.
Kito K, Kobayashi N, Mori N, Kohno H. Ruptured aneurysm of the anterior spinal artery associated with pseudoxanthoma elasticum. Case report. J Neurosurg. 1983;58:126-8.
Niizuma K. Pseudoxanthoma elasticum–a fresh approach to morphogenesis using tannic acid fixation. Tokai J Exp Clin Med. 1983;8:79-88.
Schiazza L, Nemelka O, Occella C, Persi A, Rampini E. Pseudoxanthoma elasticum. Minerva Pediatr. 1983;35:279-86.
Smallridge RC, Gemayel N. Pseudoxanthoma elasticum and autoimmune thyroid disease. Arch Intern Med. 1983;143:1490.
Uitto J, Paul JL, Brockley K, Pearce RH, Clark JG. Elastic fibers in human skin: quantitation of elastic fibers by computerized digital image analyses and determination of elastin by radioimmunoassay of desmosine. Lab Invest. 1983;49:499-505.

1982

Danielsen L. Morphologic changes in pseudoxanthoma elasticum and senile skin. Int J Dermatol. 1982;21:449-54.
Drost H, van Dam FE, Kluck HM. Life-threatening gastric bleeding in a patient with pseudoxanthoma elasticum. Ned Tijdschr Geneeskd. 1982;126:2287-91.
Lebwohl MG, Distefano D, Prioleau PG, Uram M, Yannuzzi LA, Fleischmajer R. Pseudoxanthoma elasticum and mitral-valve prolapse. N Engl J Med. 1982;307:228-31.
Levitt MW, Collison JM. Difficult endotracheal intubation in a patient with pseudoxanthoma elasticum. Anaesth Intensive Care. 1982;10:62-4.
Maumenee IH. The eye in connective tissue diseases. Prog Clin Biol Res. 1982;82:53-6.
Muratani H, Nakashima T, Ueno M, Sato H, Inoue K, Shiraki Y. Pseudoxanthoma elasticum associated with Hashimoto’s thyroiditis. Jpn J Med. 1982;21:223-6.
Peserico A, Dal Bo Zanon R, Ruffato G, Cipriani R, Girolami A. Coagulation and rheologic parameters in pseudoxanthoma elasticum. G Ital Dermatol Venereol. 1982;117:27-30.
Premalatha S, Yesudian P, Thambiah AS. Periumbilical pseudoxanthoma elasticum with transepidermal elimination. Int J Dermatol. 1982;21:604-5.
Pyeritz RE, Weiss JL, Renie WA, Fine SL. Pseudoxanthoma elasticum and mitral-valve prolapse. N Engl J Med. 1982 2;307:1451-2.
Sánchez-Pedreño Guillén P, Moreno Giménez JC, Camacho Martínez F. Pseudoxanthoma elasticum. Apropos of 7 cases. Med Cutan Ibero Lat Am. 1982;10:379-84.
Schibli H, Stutz SB, Vogel A, Jaeger W, Bersch A, Schnyder UW. Systemic cutis laxa-like pseudoxanthoma elasticum. Hautarzt. 1982;33:101-5.
Singh RH, Kumar B, Kaur S. Pseudoxanthoma elasticum a report of six cases. J Assoc Physicians India. 1982;30:845-7.
Tanaka T, Kitani H, Makimoto K, Uno J, Shimizu N. A case of pseudoxanthoma elasticum complicated by angioid streaks and hypertension. Hiroshima J Med Sci. 1982;31:21-5.

1981

Gindin I, Almog C, Gil I, Zak’sh D. Pseudoxanthoma elasticum in an entire generation of a family. 1981;101:58-60.
Goette DK, Carpenter WM. The mucocutaneous marker of pseudoxanthoma elasticum. Oral Surg Oral Med Oral Pathol. 1981;51:68-72.
González Fernández AF, Barthe Aza A, Soler Sánchez T. Pseudoxanthoma elasticum. Actas Dermosifiliogr. 1981;72:333-6.
Krechel SL, Ramirez-Inawat RC, Fabian LW. Anesthetic considerations in pseudoxanthoma elasticum. Anesth Analg. 1981;60:344-7.
Mamtora H, Cope V. Pulmonary opacities in pseudoxanthoma elasticum: report of two cases. Br J Radiol. 1981;54:65-7.
Munyer TP, Margulis AR. Pseudoxanthoma elasticum with internal carotid artery aneurysm. AJR Am J Roentgenol. 1981;136:1023-4.
O’Holleran M, Merrell RC. Pseudoxanthoma elasticum and polyposis coli: a novel co-mutation. Arch Surg. 1981;116:476-7.
Pasquali-Ronchetti I, Volpin D, Baccarani-Contri M, Castellani I, Peserico A. Pseudoxanthoma elasticum. Biochemical and ultrastructural studies. Dermatologica. 1981;163:307-25.
Pieczuro A, Lozza M. Cerebrovascular disease and pseudoxanthoma elasticum: apropos of a case. Riv Neurol. 1981;51:261-73.
Przybojewski JZ, Maritz F, Tiedt FA, van der Walt JJ. Pseudoxanthoma elasticum with cardiac involvement. A case report and review of the literature. S Afr Med J. 1981;59:268-75.

1980

Barrière H, Berger M, Stalder JF, Le Monnier JY, Lammens J. Pseudoxanthoma elasticum and pregnancy. Ann Dermatol Venereol. 1980;107:817-9.
Cunningham JR, Lippman SM, Renie WA, Francomano CA, Maumenee IH, Pyeritz RE. Pseudoxanthoma elasticum: treatment of gastrointestinal hemorrhage by arterial embolization and observations on autosomal dominant inheritance. Johns Hopkins Med J. 1980;147:168-73.
Fdez Redondo V, Fonseca Moretón A, Pérez Becerra E, Robledo Aguilar A. Periumbilical perforating pseudoxanthoma elasticum. Actas Dermosifiliogr. 1980;71:197-200.
Heid E, Eberst E, Lazrak B, Basset A. Pseudoxanthoma elasticum and acneiform lesions. Ann Dermatol Venereol. 1980;107:569-71.
Jackson A, Loh CL. Pulmonary calcification and elastic tissue damage in pseudoxanthoma elasticum. 1980;4:607-11.
Kansy J, Osiecka Z, Biernat A, Dumański Z. Pseudoxanthoma elasticum with hypertension in a 13-year-old girl. Pediatr Pol. 1980;55:633-7.
Kaplan G, Vinceneux P, Grossin M, Kahn MF. Association of tumoral calcinosis and pseudoxanthoma elasticum. Apropos of a case. Rev Rhum Mal Osteoartic. 1980;47:657-60.
Navarro-Lopez F, Llorian A, Ferrer-Roca O, Betriu A, Sanz G. Restrictive cardiomyopathy in pseudoxanthoma elasticum. Chest. 1980;78:113-5.
Schaber DC, Wingfield CD, Maxfield DL. Grönblad-Strandberg syndrome: report of a case and review of the literature. J Am Osteopath Assoc. 1980;79:326-31.
Stepanova LI, Masliuk NI, Esenina KP. Darier’s pseudoxanthoma elasticum. Vestn Dermatol Venerol. 1980;9:48-50.

1979

Bryant J. Regression of pseudoxanthoma elasticum. Arch Pathol Lab Med. 1979;103:51-2.
Callen JP. The skin, the eye, and systemic disease. Cutis. 1979;24:501-11.
Danielsen L. Morphological changes in pseudoxanthoma elasticum and senile skin. Acta Derm Venereol Suppl (Stockh). 1979;83:1-79.
Dupre A, Bonafe JL, Christol B. Chequered localized pseudoxanthoma elasticum: a variety of Christensen’s exogenous pseudoxanthoma elasticum? Acta Derm Venereol. 1979;59:539-41.
Dymock RB. Pseudoxanthoma elasticum: report of a case with reno-vascular hypertension. Australas J Dermatol. 1979;20:82-4.
Hicks J, Carpenter CL Jr, Reed RJ. Periumbilical perforating pseudoxanthoma elasticum. Arch Dermatol. 1979;115:300-3.
Lunia S, Chodos RB, Vedder DK. Localization of 99mTc-methylene diphosphonate in skin lesions of pseudoxanthoma elasticum. Clin Nucl Med. 1979;4:196-7.
Meislik J, Neldner K, Reeve EB, Ellis PP. Atypical drusen in pseudoxanthoma elasticum. Ann Ophthalmol. 1979;11:653-6.
Neldner KH, Martinez-Hernandez A. Localized acquired cutaneous pseudoxanthoma elasticum.J Am Acad Dermatol. 1979;1:523-30.
Reeve EB, Neldner KH, Subryan V, Gordon SG. Development and calcification of skin lesions in thirty-nine patients with pseudoxanthoma elasticum. Clin Exp Dermatol. 1979;4:291-301.
Roldan R, Naranjo R, Camacho F, De Dulanto F, Armijo M. Grönblad-Strandberg syndrome. Actas Dermosifiliogr. 1979;70:443-54.
Zver’kova FA. Pseudoxanthoma elasticum in children. Vestn Dermatol Venerol. 1979;10:39-42.

1978

Christensen OB. An exogenous variety of pseudoxanthoma elasticum in old farmers. Acta Derm Venereol. 1978;58:319-21.
Dreyer R, Green WR. The pathology of angioid streaks: a study of twenty-one cases. Trans Pa Acad Ophthalmol Otolaryngol. 1978;31:158-67.
Eliseeva EG, Dimitrova VG, Podgornaia NN, Pereverzina OK. Fluorescence angiography and laser coagulation in Gronblad-Strandberg syndrome. Vestn Oftalmol. 1978;3:30-1.
Engelman MW, Fliegelman MT. Pseudoxanthoma elasticum. Cutis. 1978;21:837-40.
Fellner MJ, Chen AS, McCabe JB. Pseudoxanthoma elasticum. Arch Dermatol. 1978;114:288.
Gordon SG, Overland M, Foley J. Evidence for increased protease activity secreted from cultured fibroblasts from patients with pseudoxanthoma elasticum. Connect Tissue Res. 1978;6:61-8.
Heaton RK, Vogt AT, Neldner KH, Reeve EB. Neuropsychological findings with pseudoxanthoma elasticum. Acta Med Scand. 1978;203:215-21.
Iqbal A, Alter M, Lee SH. Pseudoxanthoma elasticum: a review of neurological complications. Ann Neurol. 1978;4:18-20.
Isaac F, Jacyk WK, Nirodi NS. Pseudoxanthoma elasticum. Afr J Med Med Sci. 1978;7:225-7.
Martinez-Hernandez A, Huffer WE, Neldner K, Gordon S, Reeve EB. Resolution and repair of elastic tissue calcification in pseudoxanthoma elasticum. Arch Pathol Lab Med. 1978;102:303-5.
Meislik J, Neldner K, Reeve EB, Ellis PP. Laser treatment in maculopathy of pseudoxanthoma elasticum. Can J Ophthalmol. 1978;13:210-12.
Mendelsohn G, Bulkley BH, Hutchins GM. Cardiovascular manifestations of Pseudoxanthoma elasticum. Arch Pathol Lab Med. 1978;102:298-302.
Nielsen AO, Christensen OB, Hentzer B, Johnson E, Kobayasi T. Salpeter-induced dermal changes electron-microscopically indistinguishable from pseudoxanthoma elasticum. Acta Derm Venereol. 1978;58:323-7.
Ross R, Fialkow PJ, Altman LK. Fine structure alterations of elastic fibers in pseudoxanthoma elasticum. Clin Genet. 1978;13:213-23.
Schwartz RA, Richfield DF. Pseudoxanthoma elasticum with transepidermal elimination. Arch Dermatol. 1978;114:279-80.

1977

Bogdanowski T, Gluza J, Rasiewicz D. The significance of fluorescein angiography in the early diagnosis of lesions on ocular fundus at pseudoxanthoma elasticum patients. Arch Dermatol Res. 1977;258:259-64.
Calap J, Mascaró JM, Alonso J. Groenblad-Strandberg syndrome. Study with scanning microscopy provided with an X rays analyzer. Med Cutan Ibero Lat Am. 1977;5:129-34.
Calap J, Mascaro JM, Alonso J. Scanning electron microscopic and X ray microanalysis study of the mineral deposits in pseudoxanthoma elasticum. Arch Dermatol Res. 1977;259:91-6.
Fukushiro R. Grönblad-Strandberg syndrome. Nippon Rinsho. 1977;35 Suppl 1:1206-7.
Hartman A, Hartman-Visser SR. Pseudoxanthoma elasticum with extensive comedo formation. Dermatologica. 1977;154:318-9.
Hentzer B, Nielsen AO, Johnsen F, Kobayasi T, Danielsen L. In vitro calcification of connective tissue from uninvolved skin of patients with pseudoxanthoma elasticum. Arch Dermatol Res. 1977;258:219-22.
Hornstein OP, Haneke E. Pseudoxanthoma elasticum (PXE). Z Hautkr. 1977;52:999-1000.
Jensen OA. Bruch’s membrane in pseudoxanthoma elasticum. Histochemical, ultrastructural, and x-ray microanalytical study of the membrane and angioid streak areas. Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1977;203:311-20.
Le Rebeller MJ, Penide JF, Douenne JL, Hournau A. A case of Groenblad-Strandberg syndrome with advanced macular degeneration and Basedow’s disease. Bull Soc Ophtalmol Fr. 1977;77:713-7.
McKee PH, Cameron CH, Archer DB, Logan WC. A study of four cases of pseudoxanthoma elasticum. J Cutan Pathol. 1977;4:146-53.
Olszewska Z, Selawska-Rybus H, Giryn I. Pseudoxanthoma elasticum in 3 persons of the same family. Przegl Dermatol. 1977;64:37-42.
Otkjaer-Nielsen A, Johnson E, Hentzer B, Danielsen L, Carlsen F. Apatite crystals in pseudoxanthoma elasticum: a combined study using electron microscopy and selected area diffraction analysis. J Invest Dermatol. 1977;69:376-8.
Prick JJ, Thijssen HO. Radiodiagnostic signs in pseudoxanthoma elasticum generalisatum (dysgenesis elastofibrillaris mineralisans). Clin Radiol. 1977;28:549-54.
Wahlqvist ML, Fox RM, Beech AM, Favilla I. Peripheral vascular disease as a mode of presentation of pseudoxanthoma elasticum. Aust N Z J Med. 1977;7:523-5.
Wilkinson JD. Pseudoxanthoma elasticum and acrosclerosis. Proc R Soc Med. 1977;70:567-70.

1976

Carter DJ, Woodward DA, Vince FP. Arterial surgery in pseudoxanthoma elasticum.
el-Mofty A. Various ocular findings in Groenblad- syndrome. Bull Ophthalmol Soc Egypt. 1976;69:481-93.
Gluza J, Bogdanowski T, Rasiewicz J. Early changes in eye fundus in Grönblad-Strandberg syndrome in the eye fundus. Klin Oczna. 1976;46:643-7.
Grasa Jordán MP, Pastor Bajo JA, Calvo Morales A, Aizpún Ponzán M, Marron Gasca J. Elastic pseudoxanthoma. Actas Dermosifiliogr. 1976;67:253-358.
Grison D, Eisenmann B, Baehrel B, Kieny R. Vascular complications of systemic elastorrhexis. Chirurgie. 1976;102:440-8.
Kaplan EN, Henjyoji EY. Pseudoxanthoma elasticum: a dermal elastosis with surgical implications. Plast Reconstr Surg. 1976;58:595-600.
Lund HZ, Gilbert CF. Perforating pseudoxanthoma elasticum. Its distinction from elastosis perforans serpiginosa. Arch Pathol Lab Med. 1976;100:544-6.
Neumann E, Mühlberg H. Blood circulation disturbances of the upper extremities as a principle symptom of pseudoxanthoma elasticum. Z Gesamte Inn Med. 1976;31:948-52.
Niemi KM, Karvonen J. Letter: A case of pseudoxanthomatous mastocytosis. Br J Dermatol. 1976;94:343-4.
Oldakowska W. Systemic degeneration of elastic tissue (Groenblad-Strandberg syndrome). Klin Oczna. 1976;46:1033-6.
Olszewska Z, Defecińska-Trzeciak E. Pseudoxanthoma elasticum in the light of new data. Przegl Dermatol. 1976;63:707-13.
Postgrad Med J. 1976;52:291-2.
Sen S. Pseudoxanthoma elasticum with elastosis perforans serpiginosa. Indian J Dermatol. 1976;21:51-2.
Venugopal NS, Samraj D. Pseudoxanthoma elasticum–a case report. Indian J Ophthalmol. 1976;24:25-8.

1975

Akhtar M, Brody H. Elastic tissue in pseudoxanthoma elasticum. Ultrastructural study of endocardial lesions. Arch Pathol. 1975;99:667-71.
Bete JM, Banas JS Jr, Moran J, Pinn V, Levine HJ. Coronary artery disease in an 18 year old with pseudoxanthoma elasticum: successful surgical therapy. Am J Cardiol. 1975;36:515-20.
Caro I, Sher MA, Rippey JJ. Pseudoxanthoma elasticum and Elastosis perforans serpiginosa. Report of two cases. Dermatologica. 1975;150:36-42.
Eng AM, Bryant J. Clinical pathologic observations in peudoxanthoma elasticum. Int J Dermatol. 1975;14:586-605.
Fretzin DF. Pseudoxanthoma elasticum in hyperphosphatasia. Arch Dermatol. 1975;111:271-2.
Gordon SG, Subryan VL, Solomons CC, Lewis BJ, Neldner KH. In vitro uptake of calcium by dermis of patients with pseudoxanthoma elasticum. J Lab Clin Med. 1975;86:638-43.
Goto K. Involvement of central nervous system in pseudoxanthoma elasticum. Folia Psychiatr Neurol Jpn. 1975;29:263-77.
Hagedoorn A. Angioid streaks and traumatic ruptures of Bruch’s membrane. Br J Ophthalmol. 1975;59:267.
Harvey W, Pope FM, Grahame R. Cutaneous extensibility in pseudo-xanthoma elasticum. Br J Dermatol. 1975;92:679-83.
Janković D, Arnerić S, Smiljanić N, Petrović Z. Gronblad-Strandberg syndrome. Srp Arh Celok Lek. 1975;103:459-62.
Lambert D, Dubost M, Mugneret F, Justrabo E, Putelat R, Chapuis JL. Elastic pseudoxanthoma associated with lipid metabolism disorders. Nouv Presse Med. 1975;4:1123-4.
Pope FM. Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. Br J Dermatol. 1975;92:493-509.
Taylor FR. The skin and the eye. Med J Aust. 1975;2:430-1.
Toussaint D. Various general ideas concerning the pathology of Bruch’s membrane. Arch Ophtalmol Rev Gen Ophtalmol. 1975;35:785-92.

1974

Altman LK, Fialkow PJ, Parker F, Sagebiel RW. Pseudoxanthoma elasticum. An underdiagnosed genetically heterogeneous disorder with protean manifestations. Arch Intern Med. 1974;134:1048-54.
Blümcke S, Langness U, Liesegang B, Fooke-Achterrath M, Thiel HJ. Light and electron microscopic and element analysis of pseudoxanthoma elasticum (Darier-Grönblad-Strandberg syndrome). Beitr Pathol. 1974;152:179-99.
Blümcke S, Langness U, Liesegang B, Fooke-Achterrath M, Thiel HJ. Calcification of elastic fibers in pseudoxanthoma elasticum. Verh Dtsch Ges Pathol. 1974;58:327-30.
Blumenkrantz N, Danielsen L, Jorgensen K. X-ray fluorescence analysis of skin in pseudoxanthoma elasticum. Acta Derm Venereol. 1974;54:129-32.
Corlay JP, Bigorgne J, Hermann P. Retinal angioid streaks apropos of 2 recent cases. Bull Soc Ophtalmol Fr. 1974;74:381-4.
Danielsen L, Kobayasi T. Pseudoxanthoma elasticum. An ultrastructural study of oral lesions. Acta Derm Venereol. 1974;54:173-6.
Danielsen L, Kobayasi T. Pseudoxanthoma elasticum. An ultrastructural study of scar tissue. Acta Derm Venereol. 1974;54:121-8.
Denk R. Skin and cardiovascular system. Internist (Berl). 1974;15:192-200.
Hull DS, Aaberg TM. Fluorescein study of a family with angioid streaks and pseudoxanthoma elasticum. Br J Ophthalmol. 1974;58:738-45.
Martinez-Hernandez A, Huffer WE. Pseudoxanthoma elasticum: dermal polyanions and the mineralization of elastic fibers. Lab Invest. 1974;31:181-6.
Mikol F, Mikol J, Leclere J. Aneurysmal dilatations of the internal carotid arteries and cutaneous calcinosis during systemic elastorrhexis. Trial treatment with calcitonin. Ann Med Interne (Paris). 1974;125:225-38.
Nicolescu R, Bork K. Quantitative measurement of peripheral circulation and additional new angiologic aspects in patients with Pseudoxanthoma elasticum (author’s transl). Arch Dermatol Forsch. 1974;249:301-11.
Pope FM. Autosomal dominant pseudoxanthoma elasticum. J Med Genet. 1974;11:152-7.
Pope FM. Two types of autosomal recessive pseudoxanthoma elasticum. Arch Dermatol. 1974;110:209-12.
Schachner L, Young D. Pseudoxanthoma elasticum with severe cardiovascular disease in a child. Am J Dis Child. 1974;127:571-5.
Sharma NG, Ghosh SK, Beohar PC, Gupta PS. Subarachnoid haemorrhage in pseudoxanthoma elasticum. Postgrad Med J. 1974;50:774-6.

1973

Adnet JJ, Kalis B, Hopfner C, Pluot M, Harmel L, Mallet P, Caulet T. Histochemical and ultrastructural cytochemical study of pseudoxanthoma elasticum. Apropos of 4 cases. Ann Dermatol Syphiligr (Paris). 1973;100:530-5.
Blumenkrantz N, Danielsen L, Asboe-Hansen G. Biosynthesis of collagen in pseudoxanthoma elasticum. Acta Derm Venereol. 1973;53:429-34.
Blumenkrantz N, Danielsen L, Asboe-Hansen G. Biosynthesis of elastin pseudoxanthoma elasticum. Acta Derm Venereol. 1973;53:435-8.
Bonnet M. Clinical picture of macula drusen. Klin Monatsbl Augenheilkd. 1973;162:326-31.
Cordier J, Raspiller A, Stehlin B. Elastorrhexia with ocular manifestations and Leber’s congenital amaurosis in the same fratry. Bull Soc Ophtalmol Fr. 1973;73:359-61.
Hogan JF, Heaton CL. Angioid streaks and systemic disease. Br J Dermatol. 1973;89:411-6.
Jorda V, Morán M, Růzicka J, Burda V. Pseudoxanthoma elasticum syndrome. Cesk Dermatol. 1973;48:394-7.
Kadri W, Rosen E, Harcourt B. Intraretinal changes in the Groenblad-Strandberg syndrome. Br J Ophthalmol. 1973;57:588-92.
Klein D, Gauthier G, Babel J. Genetic questionnaire. Genetic counseling for a patient with the complex association of G-6-PD deficiency, Gronblad-Strandberg syndrome (pseudo-xanthoma elasticum) and epilepsy. J Genet Hum. 1973;21:57-62.
Krill AE, Klien BA, Archer DB. Precursors of angioid streaks. Am J Ophthalmol. 1973;76:875-9.
Muldal S, Enoch BA, Ahmed A, Harris R. Partial trisomy 14q– and pseudoxanthoma elasticum. Clin Genet. 1973;4:480-9.
Newbold PC. The skin in genetically-controlled metabolic disorders. J Med Genet. 1973;10:101-11.
Nicolescu R, Bork K. Quantitative measurements of peripheral circulation and further angiologic aspects in patients with elastic pseudoxanthoma. Verh Dtsch Ges Inn Med. 1973;79:1403-6.
Olbromska W. Case of Grönblad-Strandberg syndrome associated with gastrointestinal bleeding. Klin Oczna. 1973;43:189-91.
Ono I, Saito S, Sakurada T, Yamamoto M, Yoshinaga K. Case of Grönbald-Strandberg syndrome complicating hyperthyroidism. Horumon To Rinsho. 1973;21:841-4.
Shpak NI, Gokova AP. Report on 9 patients with Grönblad-Strandberg syndrome. Oftalmol Zh. 1973;28:517-20.
Van Waes L, Geerts ML, Beelaerts W, Demeulenaere L. The Gronblad-Strandberg-Touraine syndrome. Apropos of a case revealed by recurrent gastric hemorrhages. Acta Gastroenterol Belg. 1973;36:302-9.
Vandekerckhove M. Pseudo-xanthoma elasticum. Arch Belg Dermatol Syphiligr. 1973;29:171-4.

1972

Alinder I, Boström H. Clinical studies on a Swedish material of pseudoxanthoma elasticum. Acta Med Scand. 1972;191:273-82.
Bedi BM, Arunthathi S. Pseudoxanthoma elasticum (report of a case). Indian J Dermatol. 1972;17:48-51.
Bouzas A, Lygidakis C, Papapetropoulos T.Some aspects of ocular and neurological manifestations of the Groenblad-Strandberg syndrome. Monogr Hum Genet. 1972;6:209.
Cristol R, Debray J, Aron. Cardiovascular manifestations in pseudoxanthoma elasticum apropos of a typical case with myocardial infarction. Ann Med Interne (Paris). 1972;123:771-6.
Danielsen L, Kobayasi T. Internal elastic lamina of gastric arteries in pseudoxanthoma elasticum. Ultrastructural studies. Acta Pathol Microbiol Scand [A]. 1972;80:697-704.
Danielsen L. Abnormal elastic fibers. Degeneration and calcification in skin and arteries. Ugeskr Laeger. 1972;134:2759-61.
Desmons F, Walbaum R. Hereditary skin diseases related to sex. Lille Med. 1972;17:447-70.
Estes JW. Platelet abnormalities in heritable disorders of connective tissue. Ann N Y Acad Sci. 1972;201:445-50.
Fukushiro R, Fukui Y, Hirone T, Konishi Y. Alteration of dermal elastic fibers in senile elastosis and pseudoxanthoma elasticum. Nippon Hifuka Gakkai Zasshi. 1972;82:661-6.
Hofmann N. Testicular damage in elastorrhexis generalisata. Arch Dermatol Forsch. 1972;242:266-72.
Khamidova MKh, Levchenko OG. Etiopathogenesis of Groenblad-Stranberg syndrome. Oftalmol Zh. 1972;27:583-6.
Koo AH, Newton TH. Pseudoxanthoma elasticum associated with carotid rete mirabile. Case report. Am J Roentgenol Radium Ther Nucl Med. 1972;116:16-22.
Kopp F, Bonerandi JJ, Sturm M, Témime P. Ulstrastructural study of elasticum pseudoxanthoma. Bull Soc Fr Dermatol Syphiligr. 1972;79:522-3.
Novokhatskiĭ AS, Kilimnik GIu. Morphology, pathology and clinical picture of Bruch’s membrane. Oftalmol Zh. 1972;27:109-13
Pope FM. Pseudoxanthoma elasticum. An historical survey. Trans St Johns Hosp Dermatol Soc. 1972;58:235-50.
Ramachandran S, Chelvarajah T. Pseudoxanthoma elasticum and angioid streaks–the “Grönblad-Strandberg” syndrome. Ceylon Med J. 1972;17:156-9.
Rios-Montenegro EN, Behrens MM, Hoyt WF. Pseudoxanthoma elasticum. Association with bilateral carotid rete mirabile and unilateral carotid-cavernous sinus fistula. Arch Neurol. 1972;26:151-5.
Roĭtburd MF. Darier’s elastic pseudoxanthoma. Vestn Dermatol Venerol. 1972;46:65-6.
Teterwak J. Groenblad-Strandberg syndrome. Klin Oczna. 1972;42:917-20.
Thierry A, Ballivet J, Dumas R, Binnert D, Nivelon A, Foissac JC, Faure R. Familial cases of intracranial aneurysms. Review of the literature and case report. Neurochirurgie. 1972;18:267-76.
Uitto J, Lindy S, Turto H, Danielsen L. Lactate dehydrogenase in pseudoxanthoma elasticum. Total activity and isoenzyme distribution in the skin. J Invest Dermatol. 1972;59:192-5.
Wilhelm K, Paver K. Sudden death in pseudoxanthoma elasticum. Med J Aust. 1972;2:1363-5.
Wollenweber J, Kiefer H, Meinhof W, Wulle KG. Blood vessel changes in Grönblad-Strandberg syndrome (Pseudoxanthoma elasticum).Z Kreislaufforsch. 1972;61:473-83.

1971

Beurey J, Weber M, Picard L, André J. Ischemic cervical myelopathy during systemic elastorrhexia. Bull Soc Fr Dermatol Syphiligr. 1971;78:509-11.
Brys R, de Keyser R, Bafort J. Recurrent gastrointestinal hemorrhage in the Grönblad-Strandberg-Touraine syndrome (PXE). Tijdschr Gastroenterol. 1971;14:182-94.
Dawber R, Shuster S. Scanning electron microscopy of dermal fibrous tissue networks in normal skin, solar elastosis and pseudo-xanthoma elasticum. Br J Dermatol. 1971;84:130-4.
Denk R. Heart involvement in skin diseases. Z Haut Geschlechtskr. 1971;46:561-6.
Gauthier O, Sarrat L, Fabères A, Derrien A, Texier L. Pseudoxanthoma elasticum with vascular manifestations. Bord Med. 1971;4:787-90.
Gordon W. Some diseases involving the eye and the skin. S Afr Med J. 1971;45:397-9.
Hanselmayer H. Fundus oculi changes in the Grönblad-Strandberg syndrome from the viewpoint of fluorescent angiography. Klin Monatsbl Augenheilkd. 1971;159:478-500.
Heard MG. Pseudoxanthoma elasticum. Birth Defects Orig Artic Ser. 1971;7:298-9.
Kolin J, Oosterhuis JA. Bruch’s membrane lesions studied with fluorescein angiography. Ophthalmologica. 1971;163:46-55.
Krzystolik Z, Adamska M. Groenblad-Strandberg syndrome (pseudoxanthoma elasticum Darieri). Klin Oczna. 1971;41:841-4.
Macmillan DC, Vickers HR. Pseudoxanthoma elasticum and a coagulation defect. Br J Dermatol. 1971;84:182.
Majláth G, Fülöp E, Masszi J, Pajor R. Significance of pseudoxanthoma elasticum in ophthalmology. Klin Monatsbl Augenheilkd. 1971;159:632-8.
Mitsudo SM. Chronic idiopathic hyperphosphatasia associated with pseudoxanthoma elasticum. J Bone Joint Surg Am. 1971;53:303-14.
Paver WK. Pseudo-xanthoma elasticum. Australas J Dermatol. 1971;12:112-3.
Shevick M. Pseudoxanthoma elasticum. Angiology. 1971;22:629-46.
Tay CH. The Gronblad-Strandberg syndrome.Singapore Med J. 1971;12:304-7.
Uitto J, Lindy S, Turto H, Danielsen L. Biochemical characterization of pseudoxanthoma elasticum: collagen biosynthesis in the skin. J Invest Dermatol. 1971;57:44-8.

1970

Danielsen L, Kobayasi T, Larsen HW, Midtgaard K, Christensen HE. Pseudoxanthoma elasticum. A clinico-pathological study. Acta Derm Venereol. 1970;50:355-73.
Hamilton-Gibbs JS. Death from coronary calcinosis occurring in the baby of a mother presenting with pseudoxanthoma elasticum. Australas J Dermatol. 1970;11:145-8.
Hatano H, Arai R. Pseudoxanthoma elasticum. Geka Chiryo. 1970;22:343-4.
Messis CP, Budzilovich GN. Pseudoxanthoma elasticum. Report of an autopsied case with cerebral involvement. Neurology. 1970;20:703-9.
Pai SH, Zak FG. Concurrence of pseudoxanthoma elasticum, elastosis perforans serpiginosa and systemic sclerosis. Dermatologica. 1970;140:54-9.
Pallesen J. Death following an accident in Groenblad-Strandberg syndrome. Monatsschr Unfallheilkd Versicher Versorg Verkehrsmed. 1970;73:536.
Piérard J, Kint A. Pseudoxanthoma elasticum. Its structure under electrom microscopy. Ann Dermatol Syphiligr (Paris). 1970;97:481-92.
Reny A, Mendelsohn P. Gröndblad-Strandberg syndrome with macula degeneration without angioid streaks. Bull Soc Ophtalmol Fr. 1970;70:155-60.
Sairanen E, Itkonen A, Kangas S. Pseudoxanthoma elasticum (pxe) and joint manifestations. Acta Rheumatol Scand. 1970;16:130-5.
Sheehan JP, Fragola LA Jr. Pseudoxanthoma elasticum with a sarcoidal granulomatous reaction: a case report. Int J Dermatol. 1970;9:267-72.
Sobieska-Clarowa H. Nodules of Bruch’s membrane of the choroid in a family with Groenblad-Strandberg syndrome. Klin Oczna. 1970;40:569-74.
Tay CH. Pseudoxanthoma elasticum.Postgrad Med J. 1970;46:97-108.

1969

Ayers S Jr, Mihan R. Pseudoxanthoma elasticum. Arch Dermatol. 1969;100:119-20.
Bardsley JL, Koehler PR. Pseudoxanthoma elasticum: angiographic manifestations in abdominal vessels.Radiology. 1969;93:559-62.
Borda JM, Abulafia J, Mejia MA, Gonzalez T. Pseudoxanthoma elasticum associated with neurofibromatosis of V.Recklinghausen’s. Arch Argent Dermatol. 1969;19:63-77.
Cartwright E, Danks DM, Jack I. Metachromatic fibroblasts in pseudoxanthoma elasticum and Marfan’s syndrome. Lancet. 1969;1:533-4.
Cocco AE, Grayer DI, Walker BA, Martyn LJ. The stomach in pseudoxanthoma elasticum.JAMA. 1969;210:2381-2.
Denk R. Electrocardiographic examination in patients with skin diseases. Arch Kreislaufforsch. 1969;60:33-114.
James AE Jr, Eaton SB, Blazek JV, Donner MW, Reeves RJ. Roentgen findings in pseudoxanthoma elasticum (PXE).Am J Roentgenol Radium Ther Nucl Med. 1969;106:642-7.
Johnson GJ, Bloch KJ. Immunoglobulin levels in retinal vascular abnormalities and pseudoxanthoma elasticum. Arch Ophthalmol. 1969;81:322-4.
Khamidov SH. Elastic pseudoxanthoma. Vestn Dermatol Venerol. 1969;43:71-2.
Korting W. Grönblad-Strandberg syndrome. Dtsch Med Wochenschr. 1969;94:976-7.
Marill FG, Ysmaïl-Dahlouk M. Systematized elastorrhexia (Gronblad-Strandberg syndrome) in a young girl. Bull Soc Fr Dermatol Syphiligr. 1969;76:861-2.
Michel PJ, Cretin J, Campagni JP. Pseudoxanthoma elasticum. Lyon Med. 1969;222:947.
Milstoc M. An unusual anatomo-pathologic aspects of a case with pseudoxanthoma elasticum. Dis Chest. 1969;55:431-4.
Peña y Barquín JC, De Villalobos E, Laín Martínez P, Gómez Rubí JA, Ramírez Guedes J. Gastrointestinal hemorrhage caused by pseudoxanthoma elasticum (Gronbladstrandberg’s syndrome)]. Rev Clin Esp. 1969;113:375-8.
Sakai S, Oya N, Inasaka T, Noara T, Kawai K. Case of pseudoxanthoma elasticum. 1969;24:1151-6.

1968

Biot J, Desbordes P. Apropos of a new case of pseudoxanthoma elasticum. Association with cervical arthritis and Barre Lieou syndrome. Med Trop (Mars). 1968;28:75-84.
Daiber A, Caorsi I. Elastic pseudoxanthoma. Review apropos of 3 case findings. Rev Med Chil. 1968;96:162-5.
Domonkos AN. Pseudoxanthoma elasticum. Arch Dermatol. 1968;98:551-2.
Gignoux R, Saint-Cyr M. A case of total gastrectomy for gastric hemorrhage associated with Groenblad-Strandberg disease. Lyon Chir. 1968;64:818-9.
Hewitt J, Franceschini P, Puybaret C. Elastic pseudoxanthoma. Bull Soc Fr Dermatol Syphiligr. 1968;75:430-1.
Korting GW, Holzmann H. On humoral collagen-hints in pseudoxanthoma elasticum. Arch Klin Exp Dermatol. 1968;231:408-14.
Maurice P, Capronnier C. Coronary insufficiency in elastorrhexis. Ann Cardiol Angeiol (Paris). 1968;17:301-4.
McCauley DW. Pseudoxanthoma elasticum, case report. J Okla State Med Assoc. 1968;61:368-9.
Mehta HK. Grönblad-Strandberg syndrome. Proc R Soc Med. 1968;61:548-9.
Nagayama R, Hattori H, Saeieb Q, Takahashi K. Case report of groenblad-strandberg syndrome combined with retinal detachment. Ganka. 1968;10:728-31.
Najjar SS, Farah FS, Kurban AK, Melhem RE, Khatchadourian AK. Tumoral calcinosis and pseudoxanthoma elasticum. J Pediatr. 1968;72:243-7
Percival SP. Angioid streaks and elastorrhexis. Br J Ophthalmol. 1968;52:297-309.
Rosen E. Fundus in pseudoxanthoma elasticum. Am J Ophthalmol. 1968;66:236-44.
Shevrov NN. Grönblad-Strandberg syndrome (angioid streak of the retina and elastic pseudoxanthoma). Oftalmol Zh. 1968;23:63-5.
Shimizu M, Hamaguchi T. Case of elastosis perforans complicated by pseudoxanthoma elasticum. Acta Dermatol Kyoto Engl Ed. 1968;63:351-9.
Tiberio G, Negroni L, Meduri R. Histological and histochemical examination of the superficial temporal artery in the Groenblad-Strandberg-Touraine syndrome. Ann Ottalmol Clin Ocul. 1968;94:228-46.
Touraine R. Pseudoxanthoma elasticum or systematized elastorrhexia (recent concepts). Acquis Med Recent. 1968;123-41.

1967

Buiuc S, Beşchea G, Popovici E. The Groenblad-Strandberg syndrome associated with macular degenerescence of the Junius Kuhnt type. Rev Med Chir Soc Med Nat Iasi. 1967;71:467-70.
Caravati CM Jr, Richardson DR, Bradley JE. Blue sclerae assocated with pseudoxanthoma elasticum. Arch Dermatol. 1967;96:699-700.
Fleischmajer R, Bansidhi P. Pseudoxanthoma elasticum. Arch Dermatol. 1967;96:591-2.
Grant AK, Aldor TA. Haemorrhage into the upper part of the gastro-intestinal tract in three patients with heritable disorders of connective tissue. Australas Ann Med. 1967;16:75-9.
Heyl T. Psedoxanthoma elasticum with granulomatous skin lesions. Arch Dermatol. 1967;96:528-31.
Huang S, Kumar G, Steele HD, Parker JO. Cardiac involvement in pseudoxanthoma elasticum. Report of a case. Am Heart J. 1967;74:680-6.
Huang SN, Steele HD, Kumar G, Parker JO. Ultrastructural changes of elastic fibers in pseudoxanthoma elasticum. A study of histogenesis. Arch Pathol. 1967;83:108-13.
Ito S, Imanaka T, Mori T. Case of Grönblad-Strandberg’s syndrome with goiter. Naika. 1967;20:349-52.
Kreysel HW, Lerche W, Jänner M. Observations on the Grönblad-Strandberg syndrome (angioid streaks–pseudoxanthoma elasticum). Hautarzt. 1967;18:24-8.
Miyake H, Tanaka J, Izawa Y, Hayakawa R. A new finding in oral cavity in pseudoxanthoma elasticum. Nagoya J Med Sci. 1967;29:251-9.
Moschella SL, Greenbaum CH, Fleischmajer R. Pseudoxanthoma elasticum. Arch Dermatol. 1967;96:97-8.
Mosci L, Pastine G, Simoni E. On “Grönblad-Strandberg” and “Sorsby” syndrome. Ann Ottalmol Clin Ocul. 1967;93:427-41.
Muller H. Intermittent dysbasia caused by pseudoxanthoma elasticum. Ned Tijdschr Geneeskd. 1967;111:1698-703.
Nagant de Deuxchaisnes C, Bourlond A. Grönblad-Strandberg syndrome and ankylosing spondylarthritis. Arch Belg Dermatol Syphiligr. 1967;23:77-85.
Poliner IJ. Pseudoxanthoma elasticum and gastrointestinal bleeding. J Maine Med Assoc. 1967;58:76-7.
Ramachandran CK, Warrier CB, Venugopala Pillai NS. Pseudo-xanthoma elasticum (a case report). J Assoc Physicians India. 1967;15:137-41.
Rasiewiczowa J, Sokolowski T, Bozkiewicz I. Systemic degeneration of elastic tissue (syndrome of Grönblad-Stranberg). Pol Arch Med Wewn. 1967;39:859-62.
Simpson JR. Pseudoxanthoma elasticum. Proc R Soc Med. 1967;60:1128-30.
Sourreil P, Bergouignan M, Beylot C, Henry P. Aspect of pseudoxanthoma elasticum accompanied by a subacute inflammatory syndrome. Bull Soc Fr Dermatol Syphiligr. 1967;74:698-700.
Stankler L. Pseudoxanthoma elasticum with a knuckle pad on the thumb. Acta Derm Venereol. 1967;47:263-6.
Touraine R. Pseudoxanthoma elasticum or systematized elastorrhexia (recent concepts).Acquis Med Recent. 1967;23:123-41.

1966

Avogaro P, Castellani A. Pseudoxanthoma elasticum: clinical report of a case with histochemical and biochemical characterization of the affected substrate. Clin Orthop Relat Res. 1966;44:231-9.
Brette R, Dhers A, Saint-Cyr M, Tissot A, Truchot R. Digestive hemorrhages in systematized elastorrhexis. (Hereditary elastodystrophy or Groënblad-Strandberg-Touraine disease). J Med Lyon. 1966;47:487-506.
Britten MJ. Unusual traumatic retinal haemorrhages associated with angioid streaks. Br J Ophthalmol. 1966;50:540-2.
Dhers A, Badarou G, Saint-Cyr M. Repeated digestive hemorrhages during Groenblad-Strandberg-Touraine disease. Apropos of 3 cases. Arch Fr Mal App Dig. 1966;55:665-74.
Fleischmajer R, Lara JV. Actinic elastosis and pseudoxanthoma elasticum. Dermatologica. 1966;133(5):366-78.
Hashimoto K, DiBella J, Lever WF. Electron microscope study of pseudoxanthoma elasticum. Przegl Dermatol. 1966;53:643-52.
Kleemann W. On the Groenblad-Strandberg syndrome. Z Haut Geschlechtskr. 1966;41:150-5.
Kobayashi S, Ohara O, Fukui Y, Matsubara F. Case of pseudoxanthoma elasticum with gastrointestinal hemorrhage. Nippon Naika Gakkai Zasshi. 1966;55:455-60.
Le Coulant P, Leng-Lévy J, Texier L, David-Chaussé J. Pseudoxanthoma elasticum in 3 sisters. Bull Soc Fr Dermatol Syphiligr. 1966;73:73.
Neimann N, Pernot C, Rauber G, Marchal C, Houllemarre L. So-called idiopathic pulmonary hemosiderosis. Its relation to Gronblad-Strandberg-Touraine syndrome (pseudoxanthoma elasticum). Arch Fr Pediatr. 1966;23:397-411.
Rossman RE, Johnson WP. Pseudoxanthoma elasticum. Tex Med. 1966;62:60-2.
Tabbara W. Apropos of 2 further cases of pseudoxanthoma elasticum. Laval Med. 1966;37:567-75.
Tanenbaum HL, de Margerie J. Sudden bilateral loss of central vision in pseudoxanthoma elasticum: fluorescence photography of the ocular lesions. Can J Ophthalmol. 1966;1:221-7.
Watanabe I, Umetsu M, Aizaki Y, Ogino H, Ashina T. Pseudoxanthoma elasticum accompanied by gastrointestinal hemorrhage and peripheral vascular lesions: summary of case reports in Japan. Geka Chiryo. 1966;14:120-8.

1965

Adriaenssens A. Groenblad-Strandberg syndrome and Ehlers-Danlos disease. Ann Ocul (Paris). 1965;198:656-70.
Collomb H, Graveline J, Diop M, Bourgeade A. Systemic elastorrhexis in a sicklemia patient. Bull Soc Med Afr Noire Lang Fr. 1965;10:597-602.
Farreras-Valenti P, Rozman C, Jurado-Grau J, Delrio G, Elizalde C. Groemblad-Strandberg-Touraine Syndrome With Systemic Hypertension Due To Unilateral Renal Angioma: Cure Of Hypertension After Nephrectomy. Am J Med. 1965;39:355-60.
Fountain RB, Scott OL. Pseudoxanthoma elasticum. Proc R Soc Med. 1965;58:1091-3.
Gills JP Jr, Paton D. Mottled Fundus Oculi In Pseudoxanthoma Elasticum; A Report On Two Siblings. Arch Ophthalmol. 1965;73:792-5.
Guilaine J. Pseudoxanthoma elasticum. Gaz Med Fr. 1965;72:4043-9.
Klien BA. Macular Diseases: Clinical Manifestations. Trans Am Acad Ophthalmol Otolaryngol. 1965;69:614-22.
Kühne KH. A case contribution on the Grönblad-Strandberg syndrome. Dtsch Gesundheitsw. 1965;20:1007-12.
Kutty PK, Sadasivan PB. Pseudoxanthoma Elasticum. J Indian Med Assoc. 1965;44:200-1.
Laymon CW. Cutaneous Manifestations Of Some Internal Diseases.J Lancet. 1965;85:394-7.
Lucke HJ. Psudoxanthoma Elasticum As A Generalized Disease. Munch Med Wochenschr. 1965;107:472-5.
Schutt D. Pseudoxanthoma Elasticum And Elastosis Perforans Serpiginosa. Arch Dermatol. 1965;91:151-2.
Van Balena, Houtsmuller AJ. Syndrome Of Groenblad-Strandberg-Touraine. Ophthalmologica. 1965;149:246-7.

1964

Bartholomew LQ, Cain JC, Perry HO, Bulbulian AH. Cutaneous Manifestations Of Gastrointestinal Disease. Postgrad Med. 1964;36:247-59.
Edwards HC. Pseudoxanthoma Elasticum: A Rare Cause Of Hematemesis In Children. Mem Acad Chir (Paris). 1964;90:504-8.
Gibbs JS. Pseudoxanthoma Elasticum. Aust J Dermatol. 1964;7:156-63.
Goia I, Capusan I, Papilian VV, Mauksch M. Generalized Elastorhexis And Rheumatism. (Pseudoxanthoma Elasticum And Rheumatism). Clinical And Autopsy Data To The Picture Of Generalized Elastorhexis. Z Gesamte Inn Med. 1964;19:730-5.
Gouffault J, Lenoir P, Pawlotsky Y, Guillou M, Bourel M. Cardiovascular Manifestations Of Systemic Elastorrhexis. Apropos Of A New Case Of Groenblad, Strandberg And Touraine’s Syndrome. Sem Hop. 1964;40:2467-78.
Lescut J, Gerard A, Blervacque A, Demaille A. Hematemesis And The Groenblad-Strandberg Syndrome. Arch Mal Appar Dig Mal Nutr. 1964;53:1336-8.
Nakamura S, Pimenta WP, Campos JC. Pseudoxanthoma Elasticul (Groenblad-Strandberg Syndrome).Rev Paul Med. 1964;65:106-14.
Parker JC, Friedman-Kien AE, Levin S, Bartter FC. Pseudoxanthoma Elasticum And Hypertension. N Engl J Med. 1964;271:1204-6.
Preto Parvis V, Ugo A. Histochemical and fluorescence microscopy contribution to the study of characteristic fibers of pseudoxanthoma elasticum. Boll Soc Ital Biol Sper. 1964;40:598-600.
Smith JQ Jr, Davidson EA, Taylor RW. Cutaneous Acid Mucopolysaccharides In Pseudoxanthoma Elasticum. J Invest Dermatol. 1964;43:429-30.

1963

Adriaenssens A. The Groenblad-Strandberg Syndrome And The Ehlers-Danlos Disease. Belg Tijdschr Geneesk. 1963;19:1234-45.
Flatley FJ, Atwell ME, Mcevoy RK. Pseudoxanthoma Elasticum With Gastric Hemorrhage. Arch Intern Med. 1963 Sep;112:352-6.
Foucault JP. The Cardiovascular Manifestations Of The Groenblad-Strandberg Syndrome.Arch Ophtalmol Rev Gen Ophtalmol. 1963;23:561-74.
Francois J, Vanginneken E. Retinopathy With Angioid Streaks. Belg Tijdschr Geneesk. 1963;19:1270-88.
Gennaro O, Lobato LA, Marino E. Pseudoxanthoma Elasticum. Description Of The Disease And Of A Case Treated Surgically. Prensa Med Argent. 1963;50:532-9.
Goeminne L, Vanginneken E, Bernard R. Groenblad-Strandberg-Touraine Syndrome (Systemic Elastorrhexia Or HereditaryElasto-Dystrophy). Apropos of a Case Associating a Para-Diabetic State With An Early Peripheral Arterial Lesion. Presse Med. 1963;71:2511-4.
Goodman RM, Smith EW, Paton D, Bergman RA, Siegel CL, Ottesen OE, Shelley WM, Pusch AL, Mckusick VA.Pseudoxanthoma Elasticum: A Clinical And Histopathological Study.Medicine (Baltimore). 1963;42:297-334.
Hy R, Hallotboyer P. Systemic Elastorrhexia (Groenblad-Strandberg- Touraine Syndrome. Bull Soc Fr Dermatol Syphiligr. 1963;70:285-6.
Johnson WC, Helwig EB. Histochemistry Of The Acid Mucopolysaccharides Of Skin In Normal And In Certain Pathologic Conditions.Am J Clin Pathol. 1963;40:123-31.
Kahan A, Kahan IL, Tapaszto I, Bencze G. Attempts at therapy of the pseudoxanthoma elasticum syndrome.Klin Monatsbl Augenheilkd. 1963;142:1047-58.
Nakamura K, Matsuoka M. A Case Of Angioid Streaks Of The Retina With Epileptic Seizures (L’elastorrhexie).Rocz Akad Med Im Juliana Marchlewskiego Bialymst. 1963;15:897-901.
Nardini A, Conte G. Anti-Elastase Action Of The Blood In 2 Cases Of Elastorexia Systemica. Arch Patol Clin Med. 1963;40:189-93.
Rosenberg T, Atsmon A. Hemorrhages in pseudoxanthoma elasticum. Harefuah. 1963;64:129-31.
Ugo A, Tomasini C, Adorno P. Pseudoxanthoma Elasticum (Systemic Elastorrhexis). Clinical And Histochemical Observations. Minerva Dermatol. 1963;38:402-19.
Yoneyama T, Yoneyama K, Kiyohara Y. Case of Gronblad-Strandberg syndrome with adiposogenital dystrophy. Rinsho Ganka. 1963;17:389-92.

1962

Benchimol R. Angioid streaks with pseudoxanthoma elasticum. Rev Bras Oftalmol. 1962;21:277-81.
Broustet P, Bricaud P. Elastorrhexia and malignant arterial hypertension. Bull Soc Fr Dermatol Syphiligr. 1962;69:624-5.
Connell JL. Pseudoxanthoma elasticum. A rare cause of massive gastro-intestinal haemorrhage. Aust N Z J Surg. 1962;32:78-80.
Firat T. A case of Gronblad-Strandberg syndrome.Bull Soc Ophtalmol Fr. 1962;62:155-61.
Greenblatt M. Congenital Fibrous Mesenchymoses. A Review of Pseudoxanthoma Elasticum, Marfan’s Syndrome, and Ehlers-Danlos Syndrome. Chic Med Sch Q. 1962;22:74-85.
Hudomel J. Consideration on the Groenblad-Strandberg syndrome. Szemeszet. 1962;99:111-8.
Katz L, Curtis G. Pseudoxanthoma elasticum with gastric melena.Arch Dermatol. 1962;85:651-2.
Lashmet MH. Groenblad-Strandberg syndrome: case report and review.J Indiana State Med Assoc. 1962;55:27-30.
Margaillan A. Choroid tear and Gronblad-Strandberg syndrome. Bull Soc Ophtalmol Fr. 1962;62:202-6.
Mazalton A, Mazalton NE. Digestive hemorrhages in the Groenblad-Strandberg syndrome.Sem Hop. 1962;38:2318-24.
Odeberg B. Pseudoxanthoma elasticum associated with sarcoidosis-like polymyositis, hypercalciuria and nephropathy. Nord Med. 1962;68:923-5.
Smith JQ Jr, Davidson EA, Clark RL. Dermal elastin in actinic elastosis pseudoxanthoma elasticum. Nature. 1962;195:716-7.
Whitcomb FF Jr, Brown CH. Pseudoxanthoma elasticum. Report of twelve cases: massive gastrointestinal hemorrhage in one patient.Ann Intern Med. 1962;56:834-42.

1961

Berlyne GM, Bulmer HG, Platt R. The genetics of Pseudoxanthoma elasticum. J. Med. 1961; 30: 201-212.
Connor PJ. Jr, Juergensen JL, Perry HO. Pseudoxanthoma elasticum and angioid streaks. J. Med. 1961; 30: 537-43.

1960

Berlyne GM. Pseudoxanthoma elasticum. Lancet. 1960;1:77-80.
Gadeholt H. Pseudoxanthoma elasticum; study of a family. Acta Derm Venereol. 1960;40:324-33.
Hennig K. On the clinical picture of pseudoxanthoma elasticum (Darier) with angioid streaks (Knapp) on the fundus oculi. Z Gesamte Inn Med. 1960;15:647-9.
Legrand R, Linquette M, Gerard A, Wannebroucq CP, Stalnikiewicz G. Hematemesis revealing a case of Groenblad-Strandberg disease.Arch Mal Appar Dig Mal Nutr. 1960;49:1679-83.
Pietruschka G. On the differential diagnosis of Groenblad-Stranbeg syndrome and the formation of Siegrist pigment streaks. Klin Monatsblatter Augenheilkd Augenarztl Fortbild. 1960;136:635-49.
Schuermann H, Woeber K. Pseudoxanthoma elasticum. Darier-Gronblad-Strandberg disease, elastorrhexis generalisata. Dtsch Med Wochenschr. 1960;85:413-7.
Siguier F, Guillaumat L, Hewitt J, Betourne C, Sarrazin A, Leborgne P, Antebi L. Apropos of 2 cases of Grondblad-Strandberg syndrome (association of angioid striae of the retina with a cutaneous pseudoxanthoma elasticum). Importance of systematic study of the vascular lesions by arterial biopsy. Bull Mem Soc Med Hop Paris. 1960;76:547-53.
Vancea P, Munteanu M, Vancea PP, Tudor E, Beschea G. Groenblad-Strandberg syndrome. Boll Ocul. 1960;39:159-68.
Warter J, Mantz Jm, Maurer M. Hematemesis and Groenblad-Strandberg syndrome. Apropos of 2 cases. Presse Med. 1960;68:2025-7.

1959

Bergfors PG. Hereditary elastodystrophy (“pseudoxanthoma elasticum”) and bone disease. Acta Soc Med Ups. 1959;64:147-55.
Carlborg U, Ejrup B, Gronblad E. Vascular studies in pseudoxanthoma elasticum and angioid streaks. Acta Med. Scandinav. 1959; 166: 3-84.
Coffman JD, Sommers SC. Familial pseudoxanthoma elasticum and valvular heart disease. Circulation. 1959;19:242-50.
Delbosc G, Catros A, Feuvrier YM, Ardouin M. Effects of ocular contusion in a subject of systematized elastorrhexis. Bull Soc Ophtalmol Fr. 1959;1:72-80.
Furundarena J, Cabanne GR, Rossi C. Groenblad-Strandberg disease. Prensa Med Argent. 1959;46:1269-70.
Gadeholt H. Pseudoxanthoma elasticum: A case with minimal cutaneous lesion and increased 17-hydroxycorticosterone in plasma. Acta Derm Venereol. 1959;39:247-51.
Gross G. Osteitis deformans (Paget)–angioid streaks (Knapp)–pseudoxanthoma elasticum (Darier)–manifestations of a common systemic disease? Arch Orthop Unfallchir. 1959;50:613-7.
Levy G, Brewer RL. Pseudoxanthoma elasticum; report of a case. Am J Med. 1959;26:157-60.
Robertson MG, Schroder JS. Pseudoxanthoma elasticum: a systemic disorder. Am J Med. 1959;27:433-42.

1958

Berger M, Sugar J. Contributions to an association of the Groenblad-Strandberg syndrome (Darrier’s pseudoxanthoma elasticum) with a hypophyseal tumors). Arch Klin Exp Dermatol. 1958;208:33-7.
Edwards H. Haematemesis due to pseudoxanthoma elasticum. Gastroenterologia. 1958;89:345-6.
Fisher Er, Rodnan Gp, Lansing Ai. Identification of the anatomic defect in pseudoxanthoma elasticum. Am J Pathol. 1958;34:977-91.
Marson GB, Bressanin S. A case of pseudoxanthoma elasticum (with angioid striae).Minerva Dermatol. 1958;33:270-3.
Marx P, Onfray M. A case of pseudoxanthoma elasticum with angioid streaks of the retina; report & retinographic findings. Bull Soc Ophtalmol Fr. 1958;3:202-6; discussion 207-8.
Moran TJ, Lansing AI. Studies on the nature of the abnormal fibers in pseudoxanthoma elasticum. AMA Arch Pathol. 1958;65:688-96.
Nellen M, Jacobson M. Pseudoxanthoma elasticum (Gronblad-Strandberg disease) with coronary artery calcification. S Afr Med J. 1958;32:649-51.
Woo JC Jr, Chandler FW. Pseudoxanthoma elasticum with gastric hemorrhage: report of a case. Ann Intern Med. 1958;49:215-22.
Zaichik PS. Angioid of the retina and elastic pseudoxanthoma. Vestn Oftalmol. 1958;71:31-3.
Zwaneveld HL. An organic psychosis associated with pseudoxanthoma elasticum. Ned Tijdschr Geneeskd. 1958;102:191-3.

1957

Berger M, Sugar J. Data on the simultaneous occurrence of the Groenblad-Strandberg syndrome (pseudoxanthoma elasticum Darier) and hypophyseal tumor. Borgyogy Venerol Sz. 1957;11:199-202.
Cahill JB. Pseudo-xanthoma elasticum.Aust J Dermatol. 1957;4:28-32.
Calmettes, Deodati, Amalric. Angioid striae and elastic pseudoxanthoma. Bull Soc Ophtalmol Fr. 1957;6:347-50.
Egan Ta. Angioid streaks of the retina. Bull Georgetown Univ Med Cent. 1957;11:39-41.
Fassotte C. Pseudoxanthoma elasticum with angioid striae and bronchiectasis. Arch Belg Dermatol Syphiligr. 1957;13:104-5.
Gold Sc. Still’s disease with pseudoxanthoma elasticum. Proc R Soc Med. 1957;50:473-6.
Kopsa M, Gilic M. Case of Grömbland-Strandberg syndrome. Srp Arh Celok Lek. 1957;85:1293-304.
Larmande A, Margaillan A. Paget’s disease & Grönblad-Strandberg syndrome. Bull Mem Soc Fr Ophtalmol. 1957;70:206-12; discussion 212-5.
Loria PR, Kennedy CH, Freeman JA, Henington VM.Pseudoxanthoma elasticum (Grönblad-Strandberg syndrome); a clinical, light-, and electron-microscopic study. AMA Arch Derm. 1957;76:609-18.
Scheie HG, Hogan TF Jr. Angioid streaks and generalized arterial disease.AMA Arch Ophthalmol. 1957;57:855-68.
Schuppli R. An unusual case of pseudoxanthoma elasticum. Dermatologica. 1957;115:382-6.
Shaffer B, Copelan HW, Beerman H. Pseudoxanthoma elasticum; a cutaneous manifestation of a systemic disease; report of a case of Paget’s disease and a case of calcinosis with arteriosclerosis as manifestations of this syndrome. AMA Arch Derm. 1957;76:622-30; discussion 630-3.
Teller H, Vester G.Electron microscopical studies on the intercellular collagen substance of the corium in pseudoxanthoma elasticum. Dermatol Wochenschr. 1957;136:1373-9.
Woringer F, Gerhard JP. Groenblad-Strandberg syndrome in 2 sisters.Bull Soc Fr Dermatol Syphiligr. 1957;64:726.

1956

Alexander LC, Mccaughey RS, Morrish JA. The Gronblad-Strandberg syndrome; a report of three cases presenting with massive gastrointestinal hemorrhage during pregnancy. Gastroenterology. 1956;31:156-68.
Bruce R. The Grönblad-Strandberg syndrome; pseudoxanthoma elasticum in association with angioid streaks of the retina. Med Illus. 1956;10:394-8.
Hermann H. The Grönblad-Strandberg syndrome, as seen from the genetic viewpoint. Z Haut Geschlechtskr. 1956;20:314-7.
Hoffmann D. Cardiovascular diseases in Strandberg-Gronblad syndrome. Z Mensch Vererb Konstitutionsl. 1956;33:389-403.
Keith Cg. Angioid streaks and pseudoxanthoma elasticum.Br J Ophthalmol. 1956;40:480-6.
Kubena K, Bartosova L. Ocular and cutaneous changes in elastorexia. Cesk Oftalmol. 1956;12:120-5.
Liegl O. Pseudoxanthoma elasticum with nodules of the eye fundus without pigmentary streaks. Klin Monatsblatter Augenheilkd Augenarztl Fortbild. 1956;128:467-73.
Mckusick VA. Heritable disorders of connective tissue. VI. Pseudoxanthoma elasticum. J Chronic Dis. 1956;3:263-83.

1955

Bafverstedt B, Lund F. Pseudoxanthoma elasticum and vascular disturbances with special reference to a case in a nine-year-old child. Acta Derm Venereol. 1955;35:438-45.
Bischler V. Spotted multicolor fundus oculi as an incomplete manifestation of Groenblad and Strandberg disease.Bull Mem Soc Fr Ophtalmol. 1955;68:287-91.
Reinertson RP, Farber EM. Pseudoxanthoma elasticum with gastrointestinal bleeding. Calif Med. 1955;83:94-6.
Rizzuti Ab. Angioid streaks with pseudoxanthoma elasticum; a case followed by fundus photography over a period of 27 years.Am J Ophthalmol. 1955;40:387-92.
Schuppener HJ, Meitinger-Stobbe E.Generalized elastorhexis; pseudoxanthoma elasticum, Grönblad-Strandberg syndrome. Dtsch Med Wochenschr. 1955;80:1723-7.
Szymanski FJ, Caro MR. Pseudoxanthoma elasticum; review of its relationship to internal diseases and report of an unusual case. AMA Arch Derm. 1955;71:184-9.

1954

Bronner A. Groenblad-Strandberg syndrome. Bull Soc Fr Dermatol Syphiligr. 1954;61:78-9.
Kaplan L, Hartman SW. Elastica disease; case of Grönblad-Strandberg syndrome with gastrointestinal hemorrhage. AMA Arch Intern Med. 1954;94:489-92.
Segał P, Sarnowska H, Helinski M. Elastosis dystrophica; pseudoxanthoma elasticum. Pol Tyg Lek (Wars). 1954;9:4-8.
Steinhartova L. Grönblad-Strandberg syndrome. Cesk Oftalmol. 1954;10:390-4.
Voisin J, Lombard G. Pseudoxanthoma elasticum and macular lesions without angioid stria. Bull Mem Soc Fr Ophtalmol. 1954;67:111-3; discussion, 113-6.
Woringer F. Two different histopathological aspects of pseudoxanthoma elasticum. Bull Soc Fr Dermatol Syphiligr. 1954;61:80-1.

1953

Crikelair GF. Pseudoxanthoma elasticum treated surgically. Plast reconstr surg (1946). 1953;12:152-7.
Farnarier G, Sobrepere G. Systemic elastorrhexia: angioid striae, pseudoxanthoma elasticum, arterial elastic degeneration. Arch Ophtalmol Rev Gen Ophtalmol. 1953;13:472-7.
Pierard J, Snacken J. Angioid streaks of the retina and elastic pseudoxanthoma. Arch Belg Dermatol Syphiligr. 1953;9:115-8.
Saipt O. Histology of pseudoxanthoma elasticum. Dermatol Wochenschr. 1953;128:1071-2.
Van Embden Andres GH. Internal changes in pseudoxanthoma elasticum. Ned Tijdschr Geneeskd. 1953;97:777-8.

1952

Pelbois F, Rollier F.Association of Ehler-Danlos and Groenblad-Strandberg syndromes.Bull Soc Fr Dermatol Syphiligr. 1952;59:141-3.
Wolff HH, Stokes JF, Schlesinger BE. Vascular abnormalities associated with pseudoxanthoma elasticum. Arch Dis Child. 1952;27:82-8.

1951

Carpentier E, Fassotte C, Lakaye G. Four cases of pseudoxanthoma elasticum. Arch Belg Dermatol Syphiligr. 1951;7:140-2.
Hannay PW. Some clinical and histopathological notes on pseudoxanthoma lasticum. Br J Dermatol. 1951;63:92-9.
Samitz MH, Coletti J, Greenberg M. Pseudoxanthoma elasticum. AMA Arch Derm Syphilol. 1951;64:803.
Streiff EB, Portmann UP. Angioid streaks of the retina in siblings;consideration of hereditary and pathogenetic factors. Ophthalmologica. 1951;121:87-91.
1950
Chang CE, Hu J. Angioid streaks and pseudoxanthoma elasticum; report of two cases. Chin Med J. 1950;68:290-6.
Danbolt N. Pseudoxanthoma elasticum lipodystrophica faciei.Acta Derm Venereol. 1950;30:354-61.
Gougerot H, Carteaud A. Sclerodermiform cicatrix (elastoma) on the lip after radiotherapy on a morpheaous epithelioma recovered since 1913.Bull Soc Fr Dermatol Syphiligr. 1950;57:275-7.
Lobitz WC Jr, Osterberg AE. Pseudoxanthoma elasticum micro-incineration.J Invest Dermatol. 1950;15:297-8.
Miowski D, Korting G. Pathogenesis of pseudoxanthoma elasticum (Darier) Lijec Vjesn. 1950;72:326-9.
Musini A. Touraine’s systemic elastorrhexis.Osp Maggiore. 1950;38:468-71.
Rogin JR. Pseudoxanthoma elasticum.Arch Derm Syphilol. 1950;61:875-6.
Thaler E. A case of pseudoxanthoma elasticum with angioid retinal streaks.Z Haut Geschlechtskr. 1950; 9:463-5.

1949

Thomas EW, Rook AJ. Pseudoxanthoma elasticum.Proc R Soc Med. 1949;42:142.

1948

Anderson B. Familial Central and Peripapillary Choroidal Sclerosis Associated with FamilialPseudoxanthoma Elasticum.Trans Am Ophthalmol Soc. 1948;46:326-47
Pickrell KL, Kelly JW. Marzoni FA. The plastic surgical treatment of pseudoxanthoma elasticum. Plast. Reconstr. Surg. 1948; 3: 700.

1944

Carlborg U. Studies of circulatory disturbances, pulse wave velocity and pressure pulses in larger arteries in cases of pseudoxanthoma elasticum and angioid streaks. A contribution to the knowledge of the function of elastic tissue and the smooth muscles in larger arteries. Acta Med. Scand. 1944; 151: 1-209.

1929

Gronbland E. Angioid streaks-pseudoxanthoma elasticum, vorlaufige Mitteilung. Acta. Ophthalmol. 1929; 7: 329-334.
Strandberg J. Pseudoxanthoma elasticum. Z. Haut-U Geschl-Kr 1929 ; 31: 689.

1896

Darier J. Pseudoxanthoma elasticum. Monatch.Prakt.Dermatol. 1896, 23: 609-617.
Darier J. Pseudo-xanthome èlastique. Ille congrès Intern de Dermatol de Londres 1896, 5: 289-295.

1889

Chauffard M.A. Xanthèlasma dìsseminè et symmètrique sans infuffisance hèpatique. Bull Soc Med Hop Paris (Ser 3) 1889, 6: 412-419.

1884

Balzer F. Recherches sur les caractères anatomiques du xanthèlasma. Arch.Physiol (Ser 3) 1884, 4: 65-80.

1881

Rigal D. Observation pour servir à l’histoire de la cheloide diffuse xanthèlasmique. Ann. Dermatol. Syphiligr. 1881, 2: 491-