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Cardiology222 papers

Pilar sheath acanthoma

Last edited: 4/23/2026

Overview

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by ectopic calcification of elastic fibers in the skin, eyes, cardiovascular system, and other connective tissues, leading to a variety of clinical manifestations including skin lesions, angioid streaks, and cardiovascular complications 3817.

Diagnosis

  • Clinical Features: Characteristic skin lesions (papillomas, ridged nails, atrophic scarring), angioid streaks on fundus examination, and cardiovascular calcifications 3817.
  • Genetic Testing: Mutation analysis of the ABCC6 gene is definitive for diagnosis 31747.
  • Imaging: Fundus photography, fluorescein angiography, and optical coherence tomography (OCT) to identify retinal changes such as angioid streaks and choroidal neovascularization 2750.
  • Histopathology: Skin biopsy showing calcified elastic fibers can support diagnosis 8.

    • Management

  • Supportive Care: Regular ophthalmologic evaluations to monitor for retinal complications and manage vision loss 216.
  • Anti-VEGF Therapy: Intravitreal aflibercept for treatment of choroidal neovascularization secondary to PXE 23.
  • Pharmacological Interventions:
    • - Minocycline: Shown to reduce ectopic calcification in mouse models 15. - Sodium Thiosulfate: Reported transient improvement in ectopic calcification 22.
  • Dietary Modifications: Inorganic pyrophosphate supplementation and dietary adjustments (e.g., magnesium carbonate-containing phosphate binders) may modulate calcification 1433.

    • Special Populations

  • Pregnancy: Limited data; one case report indicates successful vaginal delivery without significant retinal pathology progression 14.
  • Pediatrics: Early diagnosis and monitoring are crucial due to progressive nature of the disease 40.
  • Comorbidities: PXE patients with familial hypercholesterolemia face increased cardiovascular risk 51.

    • Key Recommendations

  • Genetic Testing for Diagnosis: Confirm PXE diagnosis through ABCC6 gene mutation analysis 347 (Evidence: Strong).
  • Regular Ophthalmologic Monitoring: Schedule frequent eye exams to detect and manage retinal complications like angioid streaks and choroidal neovascularization 216 (Evidence: Moderate).
  • Consider Anti-VEGF Therapy: Use intravitreal aflibercept for treating symptomatic choroidal neovascularization 23 (Evidence: Moderate).
  • Supportive Pharmacological Interventions: Evaluate minocycline or other calcification-modulating therapies based on clinical trial evidence in animal models 1533 (Evidence: Weak).
  • Pregnancy Management: Monitor PXE patients during pregnancy, with vaginal delivery considered safe based on limited case reports 14 (Evidence: Expert opinion).

    • References

    Showing 100 most recent of 188 indexed papers.

    1 Zafar S, Aggarwal N, Winsor J, Sina E, Vemula S, Wibbelsman TD et al.. Long-term Visual Outcomes in Pseudoxanthoma Elasticum-associated Choroidal Neovascularization: A National Database Study. Ophthalmic surgery, lasers & imaging retina 2026. link 2 La Rosa A, Feo A, Bousquet E, Cabral D, Fouad Y, Parravano M et al.. Angioid streaks-related choroidal neovascularization: Clinical features, multimodal imaging-based differential diagnosis, and optimized treatment strategies. Survey of ophthalmology 2026. link 3 Martin L, Spiering W, Aelbrecht K, Aranyi T, Duranton C, Kiss N et al.. REACT-PXE: a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE). Annales de dermatologie et de venereologie 2026. link 4 Harmsen IM, Visseren FLJ, Kok M, de Jong PA, Spiering W. Arterial calcification volume is associated with a higher risk of cardiovascular events in pseudoxanthoma elasticum. Atherosclerosis 2025. link 5 Väärämäki S, Hautero O, Rajala V, Nevalainen P. Successful Pedal Bypass in a Patient With Pseudoxanthoma Elasticum. Vascular and endovascular surgery 2025. link 6 Aljasem H, Ali-Ghosh H, Kiran T, Ohri S. Pseudoxanthoma elasticum: An unique entity in the coronary surgery. Perfusion 2025. link 7 Rohowetz LJ, Sengillo JD, Berrocal AM. Atypical angioid streaks in a patient with a monoallelic . Ophthalmic genetics 2025. link 8 Beaussier T, Rouffet A, Dejean M, Deranque C, Martin L, Rousseau P. Treatment of skin lesions related to pseudoxanthoma elasticum in plastic surgery. Annales de chirurgie plastique et esthetique 2025. link 9 Mishra AV, Martens R, MacDonald IM. Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the . Ophthalmic genetics 2024. link 10 Murshidi R, Alnaimat F, Al-Halaseh S, Hanandeh S, Hamad SB, Abdaljaleel M et al.. Pseudoxanthoma elasticum veiled as vasculitis: shedding light on an uncommon disorder and an in-depth review of the literature. Rheumatology international 2024. link 11 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. The British journal of ophthalmology 2023. link 12 Risseeuw S, Yildirim H, Spiering W, Imhof SM, van Leeuwen R, Ossewaarde-van Norel J. IS VAGINAL DELIVERY HARMFUL TO PATIENTS WITH PSEUDOXANTHOMA ELASTICUM?. Retinal cases & brief reports 2022. link 13 Kowal L, Huang J, Luo H, Singh J, Snook AE, Uitto J et al.. Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder. The Journal of investigative dermatology 2022. link 14 Kozák E, Fülöp K, Tőkési N, Rao N, Li Q, Terry SF et al.. Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum. Experimental dermatology 2022. link 15 Nollet L, Van Gils M, Willaert A, Coucke PJ, Vanakker OM. Minocycline Attenuates Excessive DNA Damage Response and Reduces Ectopic Calcification in Pseudoxanthoma Elasticum. The Journal of investigative dermatology 2022. link 16 Marques JP, Bernardes J, Geada S, Soares M, Teixeira D, Farinha C et al.. Non-exudative macular neovascularization in pseudoxanthoma elasticum. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2021. link 17 Luo H, Faghankhani M, Cao Y, Uitto J, Li Q. Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder. The Journal of investigative dermatology 2021. link 18 Li D, Ryu E, Saeidian AH, Youssefian L, Oliphant E, Terry SF et al.. GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype. The British journal of dermatology 2021. link 19 Sunmonu NA. Multiple Cerebrovascular Insults in Pseudoxanthoma Elasticum. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2021. link 20 Murro V, Mucciolo DP, Giorgio D, Pavese L, Boraldi F, Quaglino D et al.. Adaptive Optics Imaging in Patients Affected by Pseudoxanthoma Elasticum. American journal of ophthalmology 2021. link 21 Hilal M, Berthin C, Martin L, Azami H, Humeau-Heurtier A. Bidimensional Multiscale Fuzzy Entropy and Its Application to Pseudoxanthoma Elasticum. IEEE transactions on bio-medical engineering 2020. link 22 Omarjee L, Nitschke Y, Verschuere S, Bourrat E, Vignon MD, Navasiolava N et al.. 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. The British journal of dermatology 2020. link 23 Gliem M, Birtel J, Herrmann P, Fimmers R, Berger M, Coch C et al.. Aflibercept for choroidal neovascularizations secondary to pseudoxanthoma elasticum: a prospective study. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2020. link 24 Kranenburg G, Baas AF, de Jong PA, Asselbergs FW, Visseren FLJ, Spiering W. The prevalence of pseudoxanthoma elasticum: Revised estimations based on genotyping in a high vascular risk cohort. European journal of medical genetics 2019. link 25 Li Q, Huang J, Pinkerton AB, Millan JL, van Zelst BD, Levine MA et al.. Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6. The Journal of investigative dermatology 2019. link 26 Borst P, Váradi A, van de Wetering K. PXE, a Mysterious Inborn Error Clarified. Trends in biochemical sciences 2019. link 27 Birtel J, Lindner M, Mishra DK, Müller PL, Hendig D, Herrmann P et al.. Retinal imaging including optical coherence tomography angiography for detecting active choroidal neovascularization in pseudoxanthoma elasticum. Clinical & experimental ophthalmology 2019. link 28 Pomozi V, Julian CB, Zoll J, Pham K, Kuo S, Tőkési N et al.. Dietary Pyrophosphate Modulates Calcification in a Mouse Model of Pseudoxanthoma Elasticum: Implication for Treatment of Patients. The Journal of investigative dermatology 2019. link 29 Battaglia Parodi M, Romano F, Marchese A, Arrigo A, Llorenç V, Cicinelli MV et al.. Anti-VEGF treatment for choroidal neovascularization complicating pattern dystrophy-like deposit associated with pseudoxanthoma elasticum. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2019. link 30 Sun Q, Wang W, Wu L, Cheng L, Tong X, Xu X. Unexpected ABCC6 mRNA splicing in a Chinese family with pseudoxanthoma elasticum. Acta ophthalmologica 2019. link 31 Kawashima S, Togawa Y, Miyachi H, Matsue H. Dermoscopic features of pseudoxanthoma elasticum. Clinical and experimental dermatology 2018. link 32 Kauw F, Kranenburg G, Kappelle LJ, Hendrikse J, Koek HL, Visseren FLJ et al.. Cerebral disease in a nationwide Dutch pseudoxanthoma elasticum cohort with a systematic review of the literature. Journal of the neurological sciences 2017. link 33 Pomozi V, Brampton C, Szeri F, Dedinszki D, Kozák E, van de Wetering K et al.. Functional Rescue of ABCC6 Deficiency by 4-Phenylbutyrate Therapy Reduces Dystrophic Calcification in Abcc6. The Journal of investigative dermatology 2017. link 34 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. Computer methods and programs in biomedicine 2017. link 35 Ran Y, Thibodeau PH. Stabilization of Nucleotide Binding Domain Dimers Rescues ABCC6 Mutants Associated with Pseudoxanthoma Elasticum. The Journal of biological chemistry 2017. link 36 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 surgery, oral medicine, oral pathology and oral radiology 2016. link 37 Hosen MJ, Van Nieuwerburgh F, Steyaert W, Deforce D, Martin L, Leftheriotis G et al.. Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum. The Journal of investigative dermatology 2015. link 38 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 surgery, oral medicine, oral pathology and oral radiology 2015. link 39 Pomozi V, Brampton C, Fülöp K, Chen LH, Apana A, Li Q et al.. Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins. The Journal of investigative dermatology 2014. link 40 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. International journal of dermatology 2014. link 41 Besozzi G, Ferrara A, Epifani E, Intini D, Apruzzese M, Provenzano A et al.. 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. International ophthalmology 2013. link 42 Zimmo L, Rudarakanchana N, Thompson M, Hamady MS, Cheshire NJ, Bicknell CD. Renal artery aneurysm formation secondary to pseudoxanthoma elasticum. Journal of vascular surgery 2013. link 43 Boraldi F, Annovi G, Vermeer C, Schurgers LJ, Trenti T, Tiozzo R et al.. Matrix gla protein and alkaline phosphatase are differently modulated in human dermal fibroblasts from PXE patients and controls. The Journal of investigative dermatology 2013. link 44 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. Annals of vascular surgery 2012. link 45 Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I. Pseudoxanthoma elasticum, ocular manifestations, complications and treatment. Clinical & experimental optometry 2011. link 46 Lee TK, Forooghian F, Cukras C, Wong WT, Chew EY, Meyerle CB. Complementary angiographic and autofluorescence findings in pseudoxanthoma elasticum. International ophthalmology 2010. link 47 Larusso J, Ringpfeil F, Uitto J. Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy. Clinical and translational science 2010. link 48 Li Q, Uitto J. The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum. Journal of molecular medicine (Berlin, Germany) 2010. link 49 Uitto J, Li Q, Jiang Q. Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms. The Journal of investigative dermatology 2010. link 50 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. The British journal of ophthalmology 2010. link 51 Pisciotta L, Tarugi P, Borrini C, Bellocchio A, Fresa R, Guerra D et al.. Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors. Atherosclerosis 2010. link 52 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. The American journal of pathology 2009. link 53 Li Q, Larusso J, Grand-Pierre AE, Uitto J. Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticum. Clinical and translational science 2009. link 54 Plomp AS, Bergen AA, Florijn RJ, Terry SF, Toonstra J, van Dijk MR et al.. Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6. Genetics in medicine : official journal of the American College of Medical Genetics 2009. link 55 Li Q, Grange DK, Armstrong NL, Whelan AJ, Hurley MY, Rishavy MA et al.. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. The Journal of investigative dermatology 2009. link 56 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. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2009. link 57 Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Experimental dermatology 2009. link 58 Jiang Q, Endo M, Dibra F, Wang K, Uitto J. Pseudoxanthoma elasticum is a metabolic disease. The Journal of investigative dermatology 2009. link 59 Tsui I, Fuchs BS, Chou CL, Chang S, Tsang SH. Non-vascular vision loss in pseudoxanthoma elasticum. Documenta ophthalmologica. Advances in ophthalmology 2008. link 60 Hendig D, Langmann T, Kocken S, Zarbock R, Szliska C, Schmitz G et al.. Gene expression profiling of ABC transporters in dermal fibroblasts of pseudoxanthoma elasticum patients identifies new candidates involved in PXE pathogenesis. Laboratory investigation; a journal of technical methods and pathology 2008. link 61 Li Q, Jiang Q, Uitto J. Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-). The Journal of investigative dermatology 2008. link 62 Bock A, Schwegler G. Intracerebral haemorrhage as first manifestation of pseudoxanthoma elasticum. Clinical neurology and neurosurgery 2008. link 63 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. Experimental dermatology 2008. link 64 Götting C, Adam A, Szliska C, Kleesiek K. Circulating P-, L- and E-selectins in pseudoxanthoma elasticum patients. Clinical biochemistry 2008. link 65 Ratajewski M, Van de Ven WJ, Bartosz G, Pulaski L. The human pseudoxanthoma elasticum gene ABCC6 is transcriptionally regulated by PLAG family transcription factors. Human genetics 2008. link 66 Akram H, Sewell MD, Cheng LHH. Pseudoxanthoma elasticum. The British journal of oral & maxillofacial surgery 2008. link 67 Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG. ABCC6 and pseudoxanthoma elasticum. Pflugers Archiv : European journal of physiology 2007. link 68 Parodi MB, Iacono P, Ravalico G. Subretinal neovascular membrane associated with type 2a idiopathic juxtafoveolar telangiectasis in pseudoxanthoma elasticum. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2007. link 69 Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI et al.. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. The Journal of investigative dermatology 2007. link 70 Kieć-Wilk B, Surdacki A, Dembińska-Kieć A, Michalowska J, Stachura-Dereń M, Dubiel JS et al.. Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum. International journal of cardiology 2007. link 71 Li Q, Jiang Q, Schurgers LJ, Uitto J. Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-). Biochemical and biophysical research communications 2007. link 72 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. Clinical chemistry 2006. link 73 Sakata S, Su JC, Robertson S, Yin M, Chow C. Varied presentations of pseudoxanthoma elasticum in a family. Journal of paediatrics and child health 2006. link 74 Xiromeritis P, Valembois B. Pseudoxanthoma elasticum and pregnancy. Archives of gynecology and obstetrics 2006. link 75 Matsuzaki Y, Nakano A, Jiang QJ, Pulkkinen L, Uitto J. Tissue-specific expression of the ABCC6 gene. The Journal of investigative dermatology 2005. link 76 Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. Journal of medical genetics 2005. link 77 Hendig D, Schulz V, Eichgrün J, Szliska C, Götting C, Kleesiek K. New ABCC6 gene mutations in German pseudoxanthoma elasticum patients. Journal of molecular medicine (Berlin, Germany) 2005. link 78 Bercovitch RS, Januario JA, Terry SF, Boekelheide K, Podis AD, Dupuy DE et al.. Testicular microlithiasis in association with pseudoxanthoma elasticum. Radiology 2005. link 79 Quaglino D, Sartor L, Garbisa S, Boraldi F, Croce A, Passi A et al.. Dermal fibroblasts from pseudoxanthoma elasticum patients have raised MMP-2 degradative potential. Biochimica et biophysica acta 2005. link 80 Götting C, Hendig D, Adam A, Schön S, Schulz V, Szliska C et al.. Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis. Journal of molecular medicine (Berlin, Germany) 2005. link 81 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. Journal of dermatological science 2005. link 82 ul Bari A, Mehmood T. Pseudoxanthoma elasticum. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2005. link 83 Bercovitch L, Leroux T, Terry S, Weinstock MA. Pregnancy and obstetrical outcomes in pseudoxanthoma elasticum. The British journal of dermatology 2004. link 84 Noji Y, Inazu A, Higashikata T, Nohara A, Kawashiri MA, Yu W et al.. Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE). Internal medicine (Tokyo, Japan) 2004. link 85 Gheduzzi D, Guidetti R, Anzivino C, Tarugi P, Di Leo E, Quaglino D et al.. ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). Human mutation 2004. link 86 Hu X, Plomp A, Gorgels T, Brink JT, Loves W, Mannens M et al.. Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum. Genetic testing 2004. link 87 Miwa K, Higashikata T, Mabuchi H. Intravascular ultrasound findings of coronary wall morphology in a patient with pseudoxanthoma elasticum. Heart (British Cardiac Society) 2004. link 88 Gheduzzi D, Sammarco R, Quaglino D, Bercovitch L, Terry S, Taylor W et al.. Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum. Ultrastructural pathology 2003. link 89 Galadari H, Lebwohl M. Pseudoxanthoma elasticum: Temporary treatment of chin folds and lines with injectable collagen. Journal of the American Academy of Dermatology 2003. link00468-7) 90 Boraldi F, Quaglino D, Croce MA, Garcia Fernandez MI, Tiozzo R, Gheduzzi D et al.. Multidrug resistance protein-6 (MRP6) in human dermal fibroblasts. Comparison between cells from normal subjects and from Pseudoxanthoma elasticum patients. Matrix biology : journal of the International Society for Matrix Biology 2003. link 91 Li Volti S, Avitabile T, Li Volti G, Meloni I, Forabosco P, Marano F et al.. Optic disc drusen, angioid streaks, and mottled fundus in various combinations in a Sicilian family. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2002. link 92 Le Saux O, Beck K, Sachsinger C, Treiber C, Göring HH, Curry K et al.. Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. Human genetics 2002. link 93 Ohtani T, Furukawa F. Pseudoxanthoma elasticum. The Journal of dermatology 2002. link 94 Boutouyrie P, Germain DP, Tropeano AI, Laloux B, Carenzi F, Zidi M et al.. Compressibility of the carotid artery in patients with pseudoxanthoma elasticum. Hypertension (Dallas, Tex. : 1979) 2001. link 95 Cai L, Lumsden A, Guenther UP, Neldner SA, Zäch S, Knoblauch H et al.. A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum. Journal of molecular medicine (Berlin, Germany) 2001. link 96 Pulkkinen L, Nakano A, Ringpfeil F, Uitto J. Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. Human genetics 2001. link 97 Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH et al.. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. American journal of human genetics 2001. link 98 Araki Y, Yokoyama T, Sagawa N, Okuno S, Hoshino Y, Sando Y et al.. Pseudoxanthoma elasticum diagnosed 25 years after the onset of cardiovascular disease. Internal medicine (Tokyo, Japan) 2001. link 99 Terry SF, Boyd CD. Researching the biology of PXE: partnering in the process. American journal of medical genetics 2001. link 100 Hirata K, Kakazu M, Wake M, Kyushima M, Asato H, Tengan T et al.. Acute aortic valvular regurgitation secondary to avulsion of aortic valve commissure in a patient with pseudoxanthoma elasticum. Internal medicine (Tokyo, Japan) 2000. link

    Original source

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      Long-term Visual Outcomes in Pseudoxanthoma Elasticum-associated Choroidal Neovascularization: A National Database Study. — Zafar S, Aggarwal N, Winsor J, Sina E, Vemula S, Wibbelsman TD et al. Ophthalmic surgery, lasers & imaging retina (2026)
    2. [2]
      Angioid streaks-related choroidal neovascularization: Clinical features, multimodal imaging-based differential diagnosis, and optimized treatment strategies. — La Rosa A, Feo A, Bousquet E, Cabral D, Fouad Y, Parravano M et al. Survey of ophthalmology (2026)
    3. [3]
      REACT-PXE: a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE). — Martin L, Spiering W, Aelbrecht K, Aranyi T, Duranton C, Kiss N et al. Annales de dermatologie et de venereologie (2026)
    4. [4]
      Arterial calcification volume is associated with a higher risk of cardiovascular events in pseudoxanthoma elasticum. — Harmsen IM, Visseren FLJ, Kok M, de Jong PA, Spiering W Atherosclerosis (2025)
    5. [5]
      Successful Pedal Bypass in a Patient With Pseudoxanthoma Elasticum. — Väärämäki S, Hautero O, Rajala V, Nevalainen P Vascular and endovascular surgery (2025)
    6. [6]
      Pseudoxanthoma elasticum: An unique entity in the coronary surgery. — Aljasem H, Ali-Ghosh H, Kiran T, Ohri S Perfusion (2025)
    7. [7]
      Atypical angioid streaks in a patient with a monoallelic — Rohowetz LJ, Sengillo JD, Berrocal AM Ophthalmic genetics (2025)
    8. [8]
      Treatment of skin lesions related to pseudoxanthoma elasticum in plastic surgery. — Beaussier T, Rouffet A, Dejean M, Deranque C, Martin L, Rousseau P Annales de chirurgie plastique et esthetique (2025)
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      Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the — Mishra AV, Martens R, MacDonald IM Ophthalmic genetics (2024)
    10. [10]
      Pseudoxanthoma elasticum veiled as vasculitis: shedding light on an uncommon disorder and an in-depth review of the literature. — Murshidi R, Alnaimat F, Al-Halaseh S, Hanandeh S, Hamad SB, Abdaljaleel M et al. Rheumatology international (2024)
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      Inner retinal degeneration associated with optic nerve head drusen in pseudoxanthoma elasticum. — Hess K, Raming K, Charbel Issa P, Herrmann P, Holz FG, Pfau M The British journal of ophthalmology (2023)
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      IS VAGINAL DELIVERY HARMFUL TO PATIENTS WITH PSEUDOXANTHOMA ELASTICUM? — Risseeuw S, Yildirim H, Spiering W, Imhof SM, van Leeuwen R, Ossewaarde-van Norel J Retinal cases & brief reports (2022)
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      Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder. — Kowal L, Huang J, Luo H, Singh J, Snook AE, Uitto J et al. The Journal of investigative dermatology (2022)
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      Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum. — Kozák E, Fülöp K, Tőkési N, Rao N, Li Q, Terry SF et al. Experimental dermatology (2022)
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      Minocycline Attenuates Excessive DNA Damage Response and Reduces Ectopic Calcification in Pseudoxanthoma Elasticum. — Nollet L, Van Gils M, Willaert A, Coucke PJ, Vanakker OM The Journal of investigative dermatology (2022)
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      Non-exudative macular neovascularization in pseudoxanthoma elasticum. — Marques JP, Bernardes J, Geada S, Soares M, Teixeira D, Farinha C et al. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2021)
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      Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder. — Luo H, Faghankhani M, Cao Y, Uitto J, Li Q The Journal of investigative dermatology (2021)
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      GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype. — Li D, Ryu E, Saeidian AH, Youssefian L, Oliphant E, Terry SF et al. The British journal of dermatology (2021)
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      Multiple Cerebrovascular Insults in Pseudoxanthoma Elasticum. — Sunmonu NA Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association (2021)
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      Adaptive Optics Imaging in Patients Affected by Pseudoxanthoma Elasticum. — Murro V, Mucciolo DP, Giorgio D, Pavese L, Boraldi F, Quaglino D et al. American journal of ophthalmology (2021)
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