Connor PJ Jr, Juergens JL, Perry HO, Hollenhorst RW, Edwards JE. Pseudoxanthoma elasticum and angioid streaks. A review of 106 cases. Am J Med. 1961 Apr. 30:537-43. [QxMD MEDLINE Link].
Pope FM. Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. Br J Dermatol. 1975 May. 92(5):493-509. [QxMD MEDLINE Link].
Goodman RM, Smith EW, Paton D, Bergman RA, Siegel CL, Ottesen OE, et al. Pseudoxanthoma elasticum: A clinical and histopathological study. Medicine (Baltimore). 1963 Sep. 42:297-334. [QxMD MEDLINE Link].
Eddy D. Pseudoxanthoma elasticum. Internal manifestations. A report of cases and a statistical review of the literature. Arch Dermatol. 1962. 86:729-40.
Rigal D. Observation pour server a l'histoire de la cheloide diffuse xanthelmique. Annales de dermatologie et de syphiligraphie. 1881. 2:491-5.
Darier J. Pseudoxanthoma elasticum. Monatshefte Praktische. 1896. 23:609-17.
Hacker SM, Ramos-Caro FA, Beers BB, Flowers FP. Juvenile pseudoxanthoma elasticum: recognition and management. Pediatr Dermatol. 1993 Mar. 10(1):19-25. [QxMD MEDLINE Link].
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 Dec. 42(12):881-92. [QxMD MEDLINE Link].
Uitto J, Jiang Q, Váradi A, Bercovitch LG, Terry SF. Pseudoxanthoma Elasticum: Diagnostic Features, Classification, and Treatment Options. Expert Opin Orphan Drugs. 2014 Jun 1. 2 (6):567-577. [QxMD MEDLINE Link].
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 Apr. 74:72-80. [QxMD MEDLINE Link].
Li Q, Sundberg JP, Levine M, Terry S, Uitto J. The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene. Cell Cycle. 2015. 14:1082-1089. [QxMD MEDLINE Link].
Martin LJ, Lau E, Singh H, Vergnes L, Tarling EJ, Mehrabian M. ABCC6 localizes to the mitochondria-associated membrane. Circ Res. 2012 Aug 17. 111(5):516-20. [QxMD MEDLINE Link].
Bartstra JW, Risseeuw S, de Jong PA, et al. Genotype-phenotype correlation in pseudoxanthoma elasticum. Atherosclerosis. 2021 May. 324:18-26. [QxMD MEDLINE Link]. [Full Text].
Faust I, Donhauser E, Fischer B, Ibold B, Kuhn J, Knabbe C, et al. Characterization of dermal myofibroblast differentiation in pseudoxanthoma elasticum. Exp Cell Res. 2017 Sep 4. [QxMD MEDLINE Link].
Hernández Bel L, Esteve Martínez A, Rodríguez López R, et al. Pseudoxanthoma elasticum in childhood in patient with β-thalassaemia. Arch Soc Esp Oftalmol (Engl Ed). 2020 Nov. 95 (11):555-558. [QxMD MEDLINE Link].
Katona E, Aslanidis C, Remenyik E, Csikós M, Kárpáti S, Paragh G, et al. Identification of a novel deletion in the ABCC6 gene leading to Pseudoxanthoma elasticum. J Dermatol Sci. 2005 Nov. 40(2):115-21. [QxMD MEDLINE Link].
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 Apr. 176(4):1855-62. [QxMD MEDLINE Link].
Ringpfeil F, Pulkkinen L, Uitto J. Molecular genetics of pseudoxanthoma elasticum. Exp Dermatol. 2001 Aug. 10(4):221-8. [QxMD MEDLINE Link].
Li Q, Jiang Q, Uitto J. Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-). J Invest Dermatol. 2008 May. 128(5):1160-4. [QxMD MEDLINE Link].
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 Aug. 394(1-2):54-8. [QxMD MEDLINE Link].
Götting C, Adam A, Szliska C, Kleesiek K. Circulating P-, L- and E-selectins in pseudoxanthoma elasticum patients. Clin Biochem. 2008 Apr. 41(6):368-74. [QxMD MEDLINE Link].
Le Saux O, Bunda S, VanWart CM, Douet V, Got L, Martin L, et al. Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro. J Invest Dermatol. 2006 Jul. 126(7):1497-505. [QxMD MEDLINE Link].
Ketteler M, Bongartz P, Westenfeld R, Wildberger JE, Mahnken AH, Böhm R, et al. Association of low fetuin-A (AHSG) concentrations in serum with cardiovascular mortality in patients on dialysis: a cross-sectional study. Lancet. 2003 Mar 8. 361(9360):827-33. [QxMD MEDLINE Link].
Luo G, Ducy P, McKee MD, Pinero GJ, Loyer E, Behringer RR, et al. Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein. Nature. 1997 Mar 6. 386(6620):78-81. [QxMD MEDLINE Link].
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 Jun. 127(6):1392-402. [QxMD MEDLINE Link].
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 Feb. 52(2):227-34. [QxMD MEDLINE Link].
Gheduzzi D, Boraldi F, Annovi G, DeVincenzi CP, Schurgers LJ, Vermeer C. Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients. Lab Invest. 2007 Oct. 87(10):998-1008. [QxMD MEDLINE Link].
Hendig D, Zarbock R, Szliska C, Kleesiek K, Götting C. The local calcification inhibitor matrix Gla protein in pseudoxanthoma elasticum. Clin Biochem. 2008 Apr. 41(6):407-12. [QxMD MEDLINE Link].
Rasmussen MR, Sommerlund M, Moestrup SK. Is classical pseudoxanthoma elasticum a consequence of hepatic ‘intoxication’ due to ABCC6 substrate accumulation in the liver?. Expert Rev Endocr Metabol. 2013. 8:37-46. [Full Text].
Bercovitch L, Terry P. Pseudoxanthoma elasticum 2004. J Am Acad Dermatol. 2004 Jul. 51(1 Suppl):S13-4. [QxMD MEDLINE Link].
Sherer DW, Bercovitch L, Lebwohl M. Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring. J Am Acad Dermatol. 2001 Mar. 44(3):534-7. [QxMD MEDLINE Link].
Li TH, Tseng CR, Hsiao GH, Chiu HC. An unusual cutaneous manifestation of pseudoxanthoma elasticum mimicking reticulate pigmentary disorders. Br J Dermatol. 1996 Jun. 134(6):1157-9. [QxMD MEDLINE Link].
McDonald HR, Schatz H, Aaberg TM. Reticular-like pigmentary patterns in pseudoxanthoma elasticum. Ophthalmology. 1988 Mar. 95(3):306-11. [QxMD MEDLINE Link].
Spinzi G, Strocchi E, Imperiali G, Sangiovanni A, Terruzzi V, Minoli G. Pseudoxanthoma elasticum: a rare cause of gastrointestinal bleeding. Am J Gastroenterol. 1996 Aug. 91(8):1631-4. [QxMD MEDLINE Link].
Uenishi T, Uchiyama M, Sugiura H, Danno K. Pseudoxanthoma elasticum with generalized cutaneous laxity. Arch Dermatol. 1997 May. 133(5):664-6. [QxMD MEDLINE Link].
Lebwohl M, Lebwohl E, Bercovitch L. Prominent mental (chin) crease: a new sign of pseudoxanthoma elasticum. J Am Acad Dermatol. 2003 Apr. 48(4):620-2. [QxMD MEDLINE Link].
Li TH, Tseng CR, Hsiao GH, Chiu HC. An unusual cutaneous manifestation of pseudoxanthoma elasticum mimicking reticulate pigmentary disorders. Br J Dermatol. 1996 Jun. 134(6):1157-9. [QxMD MEDLINE Link].
Lebwohl MG, Distefano D, Prioleau PG, Uram M, Yannuzzi LA, Fleischmajer R. Pseudoxanthoma elasticum and mitral-valve prolapse. N Engl J Med. 1982 Jul 22. 307(4):228-31. [QxMD MEDLINE Link].
Finger RP, Charbel Issa P, Ladewig MS, et al. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol. 2009 Mar-Apr. 54(2):272-85. [QxMD MEDLINE Link].
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 Jul-Aug. 48(4):424-38. [QxMD MEDLINE Link].
Heaton JP, Wilson JW. Pseudoxanthoma elasticum and its urological implications. J Urol. 1986 Apr. 135(4):776-7. [QxMD MEDLINE Link].
Navarro-Lopez F, Llorian A, Ferrer-Roca O, Betriu A, Sanz G. Restrictive cardiomyopathy in pseudoxanthoma elasticum. Chest. 1980 Jul. 78 (1):113-5. [QxMD MEDLINE Link].
Kakurai K, Hayashi M, Yamada K, Ishizaki N, Yonemoto Y, Morishita S, et al. A case of pseudoxanthoma elasticum with proliferative diabetic retinopathy. BMC Ophthalmol. 2017 Oct 4. 17 (1):184. [QxMD MEDLINE Link].
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 Apr. 152A(4):1049-58. [QxMD MEDLINE Link].
Letavernier E, Bouderlique E, Zaworski J, et al. Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications. Int J Mol Sci. 2019 Dec 17. 20 (24):[QxMD MEDLINE Link]. [Full Text].
De Vilder EY, Vanakker OM. From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders. World J Clin Cases. 2015 Jul 16. 3:556-574. [QxMD MEDLINE Link].
Orssaud C, Roche O, Dufier JL, Germain DP. Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients. Ophthalmic Genet. 2015. 36 (4):327-32. [QxMD MEDLINE Link].
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 Dec 1. 350(4):1082-7. [QxMD MEDLINE Link].
Viljoen DL, Bloch C, Beighton P. Plastic surgery in pseudoxanthoma elasticum: experience in nine patients. Plast Reconstr Surg. 1990 Feb. 85(2):233-8. [QxMD MEDLINE Link].
Galadari H, Lebwohl M. Pseudoxanthoma elasticum: Temporary treatment of chin folds and lines with injectable collagen. J Am Acad Dermatol. 2003 Nov. 49(5 Suppl):S265-6. [QxMD MEDLINE Link].
Stumpf MJ, Schahab N, Nickenig G, et al. Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives. Biomedicines. 2021 Dec 13. 9 (12):[QxMD MEDLINE Link]. [Full Text].
4. 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 Oct 7. 2:219. [QxMD MEDLINE Link].
Bhatnagar P, Freund KB, Spaide RF, et al. Intravitreal bevacizumab for the management of choroidal neovascularization in pseudoxanthoma elasticum. Retina. 2007 Sep. 27(7):897-902. [QxMD MEDLINE Link].
Myung JS, Bhatnagar P, Spaide RF, Klancnik JM Jr, Cooney MJ, Yannuzzi LA. Long-term outcomes of intravitreal antivascular endothelial growth factor therapy for the management of choroidal neovascularization in pseudoxanthoma elasticum. Retina. 2010 May. 30(5):748-55. [QxMD MEDLINE Link].
Marconi B, Bobyr I, Campanati A, Molinelli E, Consales V, Brisigotti V, et al. Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment. Intractable Rare Dis Res. 2014 Aug. 4:113-122. [QxMD MEDLINE Link].
Yoo JY, Blum RR, Singer GK, et al. A randomized controlled trial of oral phosphate binders in the treatment of pseudoxanthoma elasticum. J Am Acad Dermatol. 2011 Apr 13. [QxMD MEDLINE Link].