%0 Journal Article
%T Hereditary epidermolysis bullosa: clinical-epidemiological profile of 278 patients at a tertiary hospital in São Paulo, Brazil.
%A Thien CI
%A Bessa VR
%A Miotto IZ
%A Samorano LP
%A Rivitti-Machado MC
%A Oliveira ZNP
%J An Bras Dermatol
%V 99
%N 3
%D 2024 May-Jun 24
%M 38403552
%F 2.113
%R 10.1016/j.abd.2023.06.009
%X <B>BACKGROUND: </B>Epidermolysis bullosa (EB) is a group of rare hereditary diseases, characterized by fragility of the skin and mucous membranes. Epidemiological data on EB in Brazil are scarce.<BR><B>OBJECTIVE: </B>To describe epidemiological aspects of patients with EB diagnosed in the Dermatology Department of a tertiary hospital, from 2000 to 2022.<BR><B>METHODS: </B>An observational and retrospective study was conducted through the analysis of medical records. The evaluated data included clinical form, sex, family history, consanguinity, age at diagnosis, current age, time of follow-up, comorbidities, histopathology and immunomapping, presence of EB nevi and squamous cell carcinomas (SCC), cause of and age at death.<BR><B>RESULTS: </B>Of 309 patients with hereditary EB, 278 were included. The most common type was dystrophic EB (DEB), with 73% (28.4% dominant DEB, 31.7% recessive DEB and 12.9% pruriginous DEB). Other types were junctional EB with 9.4%, EB simplex with 16.5% and Kindler EB with 1.1%. Women accounted for 53% and men for 47% of cases. Family history was found in 35% and consanguinity in 11%. The mean age at diagnosis was 10.8 years and the current age was 26 years. The mean time of follow-up was nine years. Esophageal stenosis affected 14%, dental alterations affected 36%, malnutrition 13% and anemia 29%. During diagnostic investigation, 72.6% underwent histopathological examination and 92% underwent immunomapping. EB nevi were identified in 17%. Nine patients had SCC. Eleven patients died.<BR><B>CONCLUSIONS: </B>Insufficient data included to medical records, loss to follow-up, and unavailability of genetic testing.<BR><B>CONCLUSIONS: </B>In this study, dystrophic EB predominated and the need for multidisciplinary care for comorbidities and complications was highlighted.