Has, Cristina ORCID: 0000-0001-6066-507X, Hess, Moritz, Anemueller, Waltraud, Blume-Peytavi, Ulrike, Emmert, Steffen, Foelster-Holst, Regina, Frank, Jorge, Giehl, Kathrin, Guenther, Claudia, Hammersen, Johanna ORCID: 0000-0001-8821-5775, Hillmann, Kathrin, Hoeflein, Bettina, Hoeger, Peter H., Hotz, Alrun, Oji, Vinzenz, Schneider, Holm, Suessmuth, Kira, Tantcheva-Poor, Iliana, Thielking, Frederieke, Zirn, Birgit, Fischer, Judith and Reimer-Taschenbrecker, Antonia . Epidemiology of inherited epidermolysis bullosa in Germany. J. Eur. Acad. Dermatol. Venereol.. HOBOKEN: WILEY. ISSN 1468-3083

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Abstract

Background Epidermolysis bullosa (EB) is a rare genetic disorder manifesting with skin and mucosal membrane blistering in different degrees of severity. Objective Epidemiological data from different countries have been published, but none are available from Germany. Methods In this population-based cross-sectional study, people living with EB in Germany were identified using the following sources: academic hospitals, diagnostic laboratories and patient organization. Results 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-linear 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. Conclusions Altogether, there are at least 2000 patients with EB in the German population. These results should support national policies and pharmaceutical companies in decision-making, 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Has, CristinaUNSPECIFIEDorcid.org/0000-0001-6066-507XUNSPECIFIED
Hess, MoritzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Anemueller, WaltraudUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blume-Peytavi, UlrikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Emmert, SteffenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Foelster-Holst, ReginaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Frank, JorgeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giehl, KathrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guenther, ClaudiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hammersen, JohannaUNSPECIFIEDorcid.org/0000-0001-8821-5775UNSPECIFIED
Hillmann, KathrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoeflein, BettinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoeger, Peter H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hotz, AlrunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Oji, VinzenzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schneider, HolmUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Suessmuth, KiraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tantcheva-Poor, IlianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thielking, FrederiekeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zirn, BirgitUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fischer, JudithUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reimer-Taschenbrecker, AntoniaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-695057
DOI: 10.1111/jdv.18637
Journal or Publication Title: J. Eur. Acad. Dermatol. Venereol.
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 1468-3083
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
PREVALENCE; REGISTRY; ICHTHYOSIS; PHENOTYPE; GENOTYPE; CAREMultiple languages
DermatologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/69505

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