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

Abstract: Genodermatoses are monogenetic disorders, which may manifest with symptoms either exclusively on the skin or also involve other organs in the context of an associated syndrome. Over the past 30 years, numerous hereditary hair, tumor, blistering, and keratinization diseases have been characterized both clinically and genetically. This has resulted in the continuous development of disease-specific classifications as well as diagnostic algorithms and examination techniques, and has also led to new pathogenesis-based therapeutic approaches. While the deciphering of the underlying genetic defects of these diseases is already well advanced, there is still much room for the development of new translationally motivated treatment strategies

Abstract: Genodermatosen sind monogen vererbte Erkrankungen, die sich entweder ausschließlich mit Symptomen an der Haut manifestieren oder im Rahmen eines assoziierten Syndroms auch andere Organe betreffen können. In den zurückliegenden 30 Jahren wurden zahlreiche hereditäre Haar-, Tumor-, blasenbildende und Keratinisierungskrankheiten klinisch und genetisch charakterisiert. Dies hat zur kontinuierlichen Weiterentwicklung krankheitsspezifischer Klassifikationen sowie diagnostischer Algorithmen und Untersuchungstechniken geführt, aber auch zu neuen Pathogenese-basierten Therapiekonzepten. Während die Entschlüsselung der diesen Krankheiten zugrundeliegenden Gendefekte bereits weit fortgeschritten ist, gibt es noch viel Raum für die Entwicklung neuer translationaler Behandlungsstrategien