{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:57:59Z","timestamp":1791334679895,"version":"4.3.1"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,9,8]],"date-time":"2014-09-08T00:00:00Z","timestamp":1410134400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Romanian Authority for Scientific Research","award":["DEGEB (2006-2008)"],"award-info":[{"award-number":["DEGEB (2006-2008)"]}]},{"name":"Romanian Authority for Scientific Research","award":["126\/2006"],"award-info":[{"award-number":["126\/2006"]}]},{"name":"University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d Cluj-Napoca","award":["1491\/10\/28.01.2014"],"award-info":[{"award-number":["1491\/10\/28.01.2014"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Epidermolysis bullosa (<jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content>) is a rare and so far incurable genetic disease, affecting mainly the skin and mucosal membranes, manifesting with blisters triggered by minor mechanical trauma. Since only few epidemiological data on <jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content> are available, we established a Registry for <jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content> and implemented molecular diagnostic methods.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>We present epidemiologic data from the EB Registry and genotype\u2013phenotype correlations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In 2006, a registry of patients with <jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content> was initiated in the Department of Dermatology of the University of Medicine, as well as molecular diagnostic tools. The patients were diagnosed on clinical bases, and whenever possible, immunofluorescence mapping and molecular analysis were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>89 <jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content> patients were enrolled in the study from 2006 to 2012: 58 patients with dystrophic <jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">DEB<\/jats:styled-content>), 20 with <jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content> simplex, one patient was diagnosed with Kindler syndrome; in 10 patients, the type of <jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content> could not be determined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion and Conclusion<\/jats:title><jats:p>We have estimated, the total number of <jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content> patients in Romania and we have estimated the incidence and the prevalence of <jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content>. We have also managed to approximate the distribution of <jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content> types in Romania. Moreover, we performed a phenotypic and genotypic characterization in some of the patients included in the <jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content> register.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.12709","type":"journal-article","created":{"date-parts":[[2014,9,8]],"date-time":"2014-09-08T15:39:18Z","timestamp":1410190758000},"page":"899-903","source":"Crossref","is-referenced-by-count":26,"title":["Epidemiology of inherited epidermolysis bullosa in Romania and genotype\u2013phenotype correlations in patients with dystrophic epidermolysis bullosa"],"prefix":"10.1111","volume":"29","author":[{"given":"S.","family":"D\u0103nescu","sequence":"first","affiliation":[{"name":"Department of Dermatology Iuliu Hatieganu University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Has","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Freiburg Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Senila","sequence":"additional","affiliation":[{"name":"Department of Dermatology Iuliu Hatieganu University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Ungureanu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Iuliu Hatieganu University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Cosgarea","sequence":"additional","affiliation":[{"name":"Department of Dermatology Iuliu Hatieganu University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.02.004"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-12"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-540-29316-3_45"},{"key":"e_1_2_7_5_1","unstructured":"eMedicine World Medical Library\u2010Medscape.Epidermolysis Bullosa: Epidemiology. 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