{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T21:56:19Z","timestamp":1775858179454,"version":"3.50.1"},"reference-count":53,"publisher":"Akademiai Kiado Zrt.","issue":"18","license":[{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2022,5,1]]},"abstract":"<jats:p><jats:bold>\u00d6sszefoglal\u00f3.<\/jats:bold> A pseudoxanthoma elasticum (PXE, OMIM # 264800) egy\n                    autoszom\u00e1lis recessz\u00edv m\u00f3don \u00f6r\u00f6kl\u0151d\u0151 multisziszt\u00e9m\u00e1s \u00e9rintetts\u00e9ggel j\u00e1r\u00f3\n                    k\u00f3rk\u00e9p, melynek h\u00e1tt\u00e9r\u00e9ben az <jats:italic>ABCC6<\/jats:italic> g\u00e9n mut\u00e1ci\u00f3i \u00e1llnak. A\n                    t\u00fcnetek kialakul\u00e1s\u00e1nak oka az ekt\u00f3pi\u00e1s mineraliz\u00e1ci\u00f3. Kalcium-s\u00f3 krist\u00e1lyok\n                    rak\u00f3dnak le els\u0151sorban a b\u0151rben, a szem Bruch-membr\u00e1nj\u00e1ban \u00e9s az erek\n                    endothelium\u00e1ban, \u00edgy a b\u0151relv\u00e1ltoz\u00e1sok mellett a l\u00e1t\u00e1s cs\u00f6kken\u00e9se \u00e9s\n                    cardiovascularis elt\u00e9r\u00e9sek is jelentkezhetnek. A klinikai t\u00fcnetek v\u00e1ltoz\u00f3\n                    s\u00falyoss\u00e1g\u00faak lehetnek, heterog\u00e9n megjelen\u00e9s\u0171ek. A betegek fenot\u00edpus\u00e1nak\n                    azonos\u00edt\u00e1sa, valamint gondoz\u00e1sa multidiszciplin\u00e1ris feladat, b\u0151rgy\u00f3gy\u00e1sz,\n                    szem\u00e9sz, kardiol\u00f3gus \u00e9s klinikai genetikus egy\u00fcttm\u0171k\u00f6d\u00e9s\u00e9n alapul. C\u00e9lunk, hogy\n                    bemutassuk a betegs\u00e9gben el\u0151fordul\u00f3 t\u00fcneteket, melyek ismerete megk\u00f6nny\u00edti a\n                    k\u00f3rk\u00e9p felismer\u00e9s\u00e9t, illetve hogy felh\u00edvjuk a figyelmet a korai diagn\u00f3zis\n                    fontoss\u00e1g\u00e1ra \u00e9s ismertess\u00fck a korszer\u0171 diagnosztikai m\u00f3dszereket. A s\u00falyos\n                    sziszt\u00e9m\u00e1s t\u00fcnetek kialakul\u00e1sa miatt rendk\u00edv\u00fcli jelent\u0151s\u00e9ggel b\u00edr a t\u00e1rsszakm\u00e1k\n                    egy\u00fcttm\u0171k\u00f6d\u00e9se, hogy a korai diagn\u00f3zis \u00e1ltal id\u0151ben megfelel\u0151 gondoz\u00e1sban \u00e9s\n                    ter\u00e1pi\u00e1ban r\u00e9szes\u00fclhessenek a betegek. Orv Hetil. 2022; 163(18): 702\u2013711.<\/jats:p>\n                <jats:p><jats:bold>Summary.<\/jats:bold> Pseudoxanthoma elasticum (PXE, OMIM # 264800) is an\n                    autosomal recessive, multisystemic disorder, associated with mutations of the\n                        <jats:italic>ABCC6<\/jats:italic> gene. Ectopic mineralization is in the background of\n                    the clinical manifestations of the disease. Calcium-salt crystals are deposited\n                    primarily in the skin, in the Bruch membrane of the eyes, and in the vascular\n                    endothelium. Thus, in addition to the skin lesions, visual impairment and\n                    cardiovascular involvement also occur. Clinical symptoms show varying severity\n                    and display heterogeneous appearance. The identification of the phenotype and\n                    care of the patients require a multidisciplinary perspective based on the\n                    collaboration of a dermatologist, ophthalmologist, cardiologist, and clinical\n                    geneticist. The aim of our work is to describe the development of symptoms of\n                    the disease, in order to facilitate the diagnosis. In addition, we aim to draw\n                    attention to the importance of early diagnosis of pseudoxanthoma elasticum, and\n                    to present modern diagnostic methods. Considering the development of severe\n                    systemic complications, the early diagnosis with the collaboration between\n                    related specialists is crucial to provide optimal clinical care and management\n                    of the patients. Orv Hetil. 2022; 163(18): 702\u2013711.<\/jats:p>","DOI":"10.1556\/650.2022.32438","type":"journal-article","created":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T17:02:11Z","timestamp":1668790931000},"page":"702-711","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":1,"title":["Pseudoxanthoma elasticumban szenved\u0151 betegek multidiszciplin\u00e1ris ell\u00e1t\u00e1sa"],"prefix":"10.1556","volume":"163","author":[{"given":"Kl\u00e1ra","family":"Farkas","sequence":"first","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, B\u0151r-, Nemik\u00f3rtani \u00e9s B\u0151ronkol\u00f3giai Klinika Budapest, M\u00e1ria u. 41., 1085 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norbert","family":"Kiss","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, B\u0151r-, Nemik\u00f3rtani \u00e9s B\u0151ronkol\u00f3giai Klinika Budapest, M\u00e1ria u. 41., 1085 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vikt\u00f3ria","family":"Szab\u00f3","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Szem\u00e9szeti Klinika Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikl\u00f3s","family":"Resch","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Szem\u00e9szeti Klinika Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"V\u00e1mos","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Szem\u00e9szeti Klinika Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1gnes","family":"Borb\u00e1ndy","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Szem\u00e9szeti Klinika Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anik\u00f3","family":"Nagy","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, V\u00e1rosmajori Sz\u00edv- \u00e9s \u00c9rgy\u00f3gy\u00e1szati Klinika Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Astrid","family":"Apor","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, V\u00e1rosmajori Sz\u00edv- \u00e9s \u00c9rgy\u00f3gy\u00e1szati Klinika Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tam\u00e1s","family":"Ar\u00e1nyi","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Molekul\u00e1ris Biol\u00f3giai Tansz\u00e9k Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fl\u00f3ra","family":"Szeri","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Molekul\u00e1ris Biol\u00f3giai Tansz\u00e9k Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norbert","family":"Wikonk\u00e1l","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, B\u0151r-, Nemik\u00f3rtani \u00e9s B\u0151ronkol\u00f3giai Klinika Budapest, M\u00e1ria u. 41., 1085 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zolt\u00e1n","family":"Nagy","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Szem\u00e9szeti Klinika Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9la","family":"Merkely","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, V\u00e1rosmajori Sz\u00edv- \u00e9s \u00c9rgy\u00f3gy\u00e1szati Klinika Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rta","family":"Medvecz","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, B\u0151r-, Nemik\u00f3rtani \u00e9s B\u0151ronkol\u00f3giai Klinika Budapest, M\u00e1ria u. 41., 1085 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"ref0","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1146\/annurev-genom-090314-050039","article-title":"The genetics of soft connective tissue disorders","volume":"16","author":"1 Vanakker","year":"2015","unstructured":"1 Vanakker O, Callewaert B, Malfait F, et al. 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J Invest Dermatol. 2016; 136: 550-556.","journal-title":"J Invest Dermatol"},{"key":"ref3","unstructured":"4 Rigal D. Observation pour servir \u00e1 l'histoire de la ch\u00e9loide diffuse xantholasmique. Ann Dermatol Syphiligr. 1881; 2: 491-495. [French]"},{"key":"ref4","unstructured":"5 Darier J. Pseudoxanthoma elasticum. Monatsschr Prakt Dermatol. 1896; 23: 609-616. [German]"},{"key":"ref5","doi-asserted-by":"publisher","unstructured":"6 Gr\u00f6nblad E. Angioid streaks - pseudoxanthoma elasticum: vorl\u00e4ufige mitteilung. Acta Ophthalmol. 1929; 7: 329-336. [German]","DOI":"10.1111\/j.1755-3768.1929.tb07934.x"},{"key":"ref6","unstructured":"7 Strandberg J. Pseudoxanthoma elasticum. Zbl Haut Geschlechtskr. 1929; 31: 689. [German]"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1016\/j.bone.2017.06.017","article-title":"Early arterial calcification does not correlate with bone loss in pseudoxanthoma elasticum","volume":"103","author":"8 Martin","year":"2017","unstructured":"8 Martin L, Hopp\u00e9 E, Kauffenstein G, et al. Early arterial calcification does not correlate with bone loss in pseudoxanthoma elasticum. Bone 2017; 103: 88-92.","journal-title":"Bone"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1007\/s00439-002-0808-1","article-title":"Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa","volume":"111","author":"Saux O","year":"2002","unstructured":"9 Le Saux O, Beck K, Sachsinger C, et al. Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. Hum Genet. 2002; 111: 331-338.","journal-title":"Hum Genet"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1111\/bjd.17094","article-title":"The extent of pseudoxanthoma elasticum skin changes is related to cardiovascular complications and visual loss: a cross-sectional study","volume":"180","author":"10 Navasiolava","year":"2019","unstructured":"10 Navasiolava N, Gnanou M, Douillard M, et al. 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.","journal-title":"Br J Dermatol"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1038\/gim.2016.213","article-title":"Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum","volume":"19","author":"11 Legrand","year":"2017","unstructured":"11 Legrand A, Cornez L, Samkari W, et al. Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. Genet Med. 2017; 19: 909-917.","journal-title":"Genet Med"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1038\/76109","article-title":"Mutations in ABCC6 cause pseudoxanthoma elasticum","volume":"25","author":"12 Bergen","year":"2000","unstructured":"12 Bergen AA, Plomp AS, Schuurman EJ, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet. 2000; 25: 228-231.","journal-title":"Nat Genet"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1038\/s41436-020-00945-6","article-title":"Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc","volume":"23","author":"13 Verschuere","year":"2021","unstructured":"13 Verschuere S, Navassiolava N, Martin L, et al. 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Molecular genetics and modifier genes in pseudoxanthoma elasticum, a heritable multisystem ectopic mineralization disorder. J Invest Dermatol. 2021; 141: 1148-1156.","journal-title":"J Invest Dermatol"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"1941","DOI":"10.3390\/ijms18091941","article-title":"The ABCC6 transporter: a new player in biomineralization","volume":"18","author":"19 Favre","year":"2017","unstructured":"19 Favre G, Laurain A, Ar\u00e1nyi T, et al. The ABCC6 transporter: a new player in biomineralization. Int J Mol Sci. 2017; 18: 1941.","journal-title":"Int J Mol Sci"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"1463","DOI":"10.15252\/emmm.201707532","article-title":"Oral administration of pyrophosphate inhibits connective tissue calcification","volume":"9","author":"20 Dedinszki","year":"2017","unstructured":"20 Dedinszki D, Szeri F, Koz\u00e1k E, et al. Oral administration of pyrophosphate inhibits connective tissue calcification. EMBO Mol Med. 2017; 9: 1463-1470.","journal-title":"EMBO Mol Med"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1016\/j.cellsig.2018.12.009","article-title":"Cellular signaling in pseudoxanthoma elasticum: an update","volume":"55","author":"21 Van Gils","year":"2019","unstructured":"21 Van Gils M, Nollet L, Verly E, et al. Cellular signaling in pseudoxanthoma elasticum: an update. Cell Signal. 2019; 55: 119-129.","journal-title":"Cell Signal"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/1523-1747.ep12530093","article-title":"Biochemistry of the elastic fibers in normal connective tissues and its alterations in diseases","volume":"72","author":"22 Uitto","year":"1979","unstructured":"22 Uitto J. Biochemistry of the elastic fibers in normal connective tissues and its alterations in diseases. J Invest Dermatol. 1979; 72: 1-10.","journal-title":"J Invest Dermatol"},{"key":"ref22","doi-asserted-by":"publisher","first-page":"3448","DOI":"10.3390\/jcm9113448","article-title":"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","volume":"9","author":"23 Omarjee","year":"2020","unstructured":"23 Omarjee L, Mention PJ, Janin A, et al. 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.","journal-title":"J Clin Med"},{"key":"ref23","doi-asserted-by":"publisher","first-page":"1254","DOI":"10.1016\/j.jid.2018.12.017","article-title":"Adenovirus-mediated ABCC6 gene therapy for heritable ectopic mineralization disorders","volume":"139","author":"24 Huang","year":"2019","unstructured":"24 Huang J, Snook AE, Uitto J, et al. Adenovirus-mediated ABCC6 gene therapy for heritable ectopic mineralization disorders. J Invest Dermatol. 2019; 139: 1254-1263.","journal-title":"J Invest Dermatol"},{"key":"ref24","doi-asserted-by":"publisher","first-page":"598262","DOI":"10.6064\/2012\/598262","article-title":"Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues","volume":"2012","author":"25 Hosen","year":"2012","unstructured":"25 Hosen MJ, Lamoen A, De Paepe A, et al. Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues. Scientifica 2012; 2012: 598262.","journal-title":"Scientifica"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1186\/1477-7525-9-113","article-title":"The relative impact of vision impairment and cardiovascular disease on quality of life: the example of pseudoxanthoma elasticum","volume":"9","author":"26 Finger","year":"2011","unstructured":"26 Finger RP, Fenwick E, Marella M, et al. The relative impact of vision impairment and cardiovascular disease on quality of life: the example of pseudoxanthoma elasticum. Health Qual Life Outcomes 2011; 9: 113.","journal-title":"Health Qual Life Outcomes"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"1086","DOI":"10.1038\/eye.2012.101","article-title":"Tomographic fundus features in pseudoxanthoma elasticum: comparison with neovascular age-related macular degeneration in japanese patients","volume":"26","author":"27 Ellabban","year":"2012","unstructured":"27 Ellabban AA, Hangai M, Yamashiro K, et al. Tomographic fundus features in pseudoxanthoma elasticum: comparison with neovascular age-related macular degeneration in japanese patients. Eye (Lond) 2012; 26: 1086-1094.","journal-title":"Eye (Lond)"},{"key":"ref27","doi-asserted-by":"publisher","unstructured":"28 Krisk\u00f3 D, Popper-Sachetti A, Sallai \u00c1, et al. Angioid streaks in systemic disease. [Szemfen\u00e9ki angioid cs\u00edkok sziszt\u00e9m\u00e1s betegs\u00e9gekben.] Orv Hetil. 2019; 160: 994-1000. [Hungarian]","DOI":"10.1556\/650.2019.31425"},{"key":"ref28","doi-asserted-by":"publisher","first-page":"14","DOI":"10.3389\/fgene.2013.00014","article-title":"An update on the ocular phenotype in patients with pseudoxanthoma elasticum","volume":"4","author":"29 Gliem","year":"2013","unstructured":"29 Gliem M, Zaeytijd JD, Finger RP, et al. An update on the ocular phenotype in patients with pseudoxanthoma elasticum. Front Genet. 2013; 4: 14.","journal-title":"Front Genet"},{"key":"ref29","doi-asserted-by":"publisher","first-page":"1002","DOI":"10.1053\/hupa.2000.0311002","article-title":"Sudden cardiac death owing to pseudoxanthoma elasticum: a case report","volume":"31","author":"30 Nolte K","year":"2000","unstructured":"30 Nolte K B. Sudden cardiac death owing to pseudoxanthoma elasticum: a case report. Hum Pathol. 2000; 31: 1002-1004.","journal-title":"Hum Pathol"},{"key":"ref30","doi-asserted-by":"publisher","first-page":"1041","DOI":"10.1016\/j.ultrasmedbio.2004.06.004","article-title":"In patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation","volume":"30","author":"31 Kornet","year":"2004","unstructured":"31 Kornet L, Bergen AA, Hoeks AP, et al. 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: 1041-1048.","journal-title":"Ultrasound Med Biol"},{"key":"ref31","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1002\/humu.9514","article-title":"Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart","volume":"29","author":"32 Vanakker","year":"2008","unstructured":"32 Vanakker OM, Leroy BP, Coucke P, et al. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat. 2008; 29: 205.","journal-title":"Hum Mutat"},{"key":"ref32","unstructured":"33 Mendelsohn G, Bulkley BH, Hutchins GM. Cardiovascular manifestations of pseudoxanthoma elasticum. Arch Pathol Lab Med. 1978; 102: 298-302."},{"key":"ref33","doi-asserted-by":"publisher","first-page":"3897","DOI":"10.3748\/wjg.v13.i28.3897","article-title":"Pseudoxantoma elasticum, as a repetitive upper gastrointestinal hemorrhage cause in a pregnant woman","volume":"13","author":"34 Goral","year":"2007","unstructured":"34 Goral V, Demir D, Tuzun Y, et al. Pseudoxantoma elasticum, as a repetitive upper gastrointestinal hemorrhage cause in a pregnant woman. World J Gastroenterol. 2007; 13: 3897-3899.","journal-title":"World J Gastroenterol"},{"key":"ref34","doi-asserted-by":"publisher","first-page":"2646","DOI":"10.1161\/ATVBAHA.113.301901","article-title":"Characterization of cardiovascular involvement in pseudoxanthoma elasticum families","volume":"33","author":"35 Campens","year":"2013","unstructured":"35 Campens L, Vanakker OM, Trachet B, et al. Characterization of cardiovascular involvement in pseudoxanthoma elasticum families. Arterioscler Thromb Vasc Biol. 2013; 33: 2646-2652.","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"ref35","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1159\/000505026","article-title":"Pseudoxanthoma elasticum: an interesting model to evaluate chronic kidney disease-like vascular damage without renal disease","volume":"6","author":"36 D'Marco","year":"2020","unstructured":"36 D'Marco L, Lima-Mart\u00ednez M, Karohl C, et al. Pseudoxanthoma elasticum: an interesting model to evaluate chronic kidney disease-like vascular damage without renal disease. Kidney Dis (Basel) 2020; 6: 92-97.","journal-title":"Kidney Dis (Basel)"},{"key":"ref36","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1001\/archpedi.1974.02110230117021","article-title":"Pseudoxanthoma elasticum with severe cardiovascular disease in a child","volume":"127","author":"Schachner L","year":"1974","unstructured":"37 Schachner L, Young D. Pseudoxanthoma elasticum with severe cardiovascular disease in a child. Am J Dis Child. 1974; 127: 571-575.","journal-title":"Am J Dis Child"},{"key":"ref37","doi-asserted-by":"publisher","unstructured":"38 Plomp AS, Toonstra J, Bergen AA, et al. Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings. Am J Med Genet A. 2010; 152A: 1049-1058.","DOI":"10.1002\/ajmg.a.33329"},{"key":"ref38","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1136\/jmg.2007.051094","article-title":"Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum","volume":"44","author":"39 Pfendner","year":"2007","unstructured":"39 Pfendner EG, Vanakker OM, Terry SF, et al. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. 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Diagnostics (Basel) 2021; 11: 260.","journal-title":"Diagnostics (Basel)"},{"key":"ref41","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1111\/bjd.12545","article-title":"High-frequency (20-50 MHz) ultrasonography of pseudoxanthoma elasticum skin lesions","volume":"169","author":"42 Gu\u00e9rin-Moreau","year":"2013","unstructured":"42 Gu\u00e9rin-Moreau M, Leftheriotis G, Le Corre Y, et al. High-frequency (20-50 MHz) ultrasonography of pseudoxanthoma elasticum skin lesions. Br J Dermatol. 2013; 169: 1233-1239.","journal-title":"Br J Dermatol"},{"key":"ref42","unstructured":"43 Mandel VD, Boraldi F, Pellacani G, et al. Pseudoxanthoma elasticum and reflectance confocal microscopy: report of two affected young sisters. J Pediatr Neonatal Individ Med. 2015; 4: e040125."},{"key":"ref43","doi-asserted-by":"publisher","first-page":"209","DOI":"10.5826\/dpc.0903a07","article-title":"Dermoscopy, optical coherence tomography, and histological correlation of pseudoxanthoma elasticum","volume":"9","author":"44 Persechino","year":"2019","unstructured":"44 Persechino F, Giordano D, Marini CD, et al. Dermoscopy, optical coherence tomography, and histological correlation of pseudoxanthoma elasticum. Dermatol Pract Concept. 2019; 9: 209-210.","journal-title":"Dermatol Pract Concept"},{"key":"ref44","doi-asserted-by":"publisher","first-page":"6159","DOI":"10.1167\/iovs.17-22007","article-title":"Quantitative fundus autofluorescence in pseudoxanthoma elasticum","volume":"58","author":"45 Gliem","year":"2017","unstructured":"45 Gliem M, M\u00fcller PL, Birtel J, et al. Quantitative fundus autofluorescence in pseudoxanthoma elasticum. Invest Ophthalmol Vis Sci. 2017; 58: 6159-6165.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref45","doi-asserted-by":"publisher","first-page":"113","DOI":"10.5582\/irdr.2015.01014","article-title":"Pseudoxanthoma elasticum and skin: clinical manifestations, histopathology, pathomechanism, perspectives of treatment","volume":"4","author":"46 Marconi","year":"2015","unstructured":"46 Marconi B, Bobyr I, Campanati A, et al. Pseudoxanthoma elasticum and skin: clinical manifestations, histopathology, pathomechanism, perspectives of treatment. Intractable Rare Dis Res. 2015; 4: 113-122.","journal-title":"Intractable Rare Dis Res"},{"key":"ref46","doi-asserted-by":"publisher","unstructured":"47 Salles AG, Remigio AF, Moraes LB, et al. Pseudoxanthoma elasticum treatment with fractional CO2 laser. Plast Reconstr Surg Glob Open. 2014; 2: e219.","DOI":"10.1097\/GOX.0000000000000173"},{"key":"ref47","unstructured":"48 Szalai Zs, Kassay E, T\u00f6r\u00f6k \u00c9. Pseudoxanthoma elasticum with calcium deporition and exudative (pustular) symptoms. [Pseudoxanthoma elasticum kalcium depozitumokkal \u00e9s exsudat\u00edv t\u00fcnetekkel.] B\u0151rgy\u00f3gy Venerol Szle 2000; 76: 241-244. [Hungarian]"},{"key":"ref48","doi-asserted-by":"publisher","unstructured":"49 V\u00e4\u00e4r\u00e4m\u00e4ki S, Pelttari S, Uusitalo H, et al. Pyrophosphate treatment in pseudoxanthoma elasticum (PXE)-preventing re-occlusion after surgery for critical limb ischaemia. Surg Case Rep. 2019; 2: 1-3.","DOI":"10.31487\/j.SCR.2019.04.02"},{"key":"ref49","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/j.atherosclerosis.2019.10.004","article-title":"Etidronate halts systemic arterial calcification in pseudoxanthoma elasticum","volume":"292","author":"50 Bartstra","year":"2020","unstructured":"50 Bartstra JW, de Jong PA, Kranenburg G, et al. Etidronate halts systemic arterial calcification in pseudoxanthoma elasticum. Atherosclerosis 2020; 292: 37-41.","journal-title":"Atherosclerosis"},{"key":"ref50","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1111\/bjd.18632","article-title":"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","volume":"183","author":"51 Omarjee","year":"2020","unstructured":"51 Omarjee L, Nitschke Y, Verschuere S, 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. Br J Dermatol. 2020; 183: 367-372.","journal-title":"Br J Dermatol"},{"key":"ref51","doi-asserted-by":"publisher","first-page":"114","DOI":"10.3390\/jcm10010114","article-title":"Therapeutics development for pseudoxanthoma elasticum and related ectopic mineralization disorders: update 2020","volume":"10","author":"52 Luo","year":"2020","unstructured":"52 Luo H, Li Q, Cao Y, et al. Therapeutics development for pseudoxanthoma elasticum and related ectopic mineralization disorders: update 2020. J Clin Med. 2020; 10: 114.","journal-title":"J Clin Med"},{"key":"ref52","doi-asserted-by":"publisher","first-page":"27","DOI":"10.3389\/fgene.2013.00027","article-title":"Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations","volume":"4","author":"53 Ar\u00e1nyi","year":"2013","unstructured":"53 Ar\u00e1nyi T, Bacquet C, de Boussac H, et al. Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations. 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