{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:58:07Z","timestamp":1791334687681,"version":"4.3.1"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Epidermolysis bullosa (EB) is a rare genetic disorder manifesting with skin and mucosal membrane blistering in different degrees of severity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>Epidemiological data from different countries have been published, but none are available from Germany.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this population\u2010based cross\u2010sectional study, people living with EB in Germany were identified using the following sources: academic hospitals, diagnostic laboratories and patient organization.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our study indicates an overall EB incidence of 45 per million live births in Germany. With 14.23 per million live births for junctional EB, the incidence is higher than in other countries, possibly reflecting the availability of early molecular genetic diagnostics in severely affected neonates. Dystrophic EB was assessed at 15.58 cases per million live births. The relatively low incidence found for EB simplex, 14.93 per million live births, could be explained by late or missed diagnosis, but also by 33% of cases remaining not otherwise specified. Using log\u2010linear models, we estimated a prevalence of 54 per million for all EB types, 2.44 for junctional EB, 12.16 for dystrophic EB and 28.44 per million for EB simplex. These figures are comparable to previously reported data from other countries.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Altogether, there are at least 2000 patients with EB in the German population. These results should support national policies and pharmaceutical companies in decision\u2010making, allow more precise planning of drug development and clinical trials, and aid patient advocacy groups in their effort to improve quality of life of people with this orphan disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.18637","type":"journal-article","created":{"date-parts":[[2022,10,5]],"date-time":"2022-10-05T05:34:51Z","timestamp":1664948091000},"page":"402-410","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":47,"title":["Epidemiology of inherited epidermolysis bullosa in Germany"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6066-507X","authenticated-orcid":false,"given":"Cristina","family":"Has","sequence":"first","affiliation":[{"name":"Department of Dermatology, Medical Faculty and Medical Center University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moritz","family":"Hess","sequence":"additional","affiliation":[{"name":"Medical Faculty and Medical Center, Institute of Medical Biometry and Statistics University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waltraud","family":"Anem\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Blume\u2010Peytavi","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology Charit\u00e9 \u2010 Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Emmert","sequence":"additional","affiliation":[{"name":"Clinic and Policlinic for Dermatology and Venereology University Medical Center Rostock  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9114-2351","authenticated-orcid":false,"given":"Regina","family":"F\u00f6lster\u2010Holst","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology University Hospital Schleswig\u2010Holstein  Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1439-8577","authenticated-orcid":false,"given":"Jorge","family":"Frank","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology University Hospital G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathrin","family":"Giehl","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergy University of Munich LMU  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"G\u00fcnther","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospital, Technical University Dresden  Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8821-5775","authenticated-orcid":false,"given":"Johanna","family":"Hammersen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Erlangen\u2010N\u00fcrnberg  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7251-5351","authenticated-orcid":false,"given":"Kathrin","family":"Hillmann","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology Charit\u00e9 \u2010 Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettina","family":"H\u00f6flein","sequence":"additional","affiliation":[{"name":"\u201cInteressengemeinschaft Epidermolysis bullosa (IEB) e.V. 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