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Abstract Background 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. Objectives To describe epidemiological aspects of patients with EB diagnosed in the Dermatology Department of a tertiary hospital, from 2000 to 2022. Methods 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. Results 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. Study limitations Insufficient data included to medical records, loss to follow-up, and unavailability of genetic testing. Conclusions In this study, dystrophic EB predominated and the need for multidisciplinary care for comorbidities and complications was highlighted.

Myiasis is infestation of live human tissue by larva. It usually involves immunocompromised people or people living in unsanitary conditions. The cutaneous myiasis is most common type and can enter the skin with a pre-existing wound. Herein we present a case of an 18-year-old girl known case of Dystrophic Epidermolysis Bullosa with cutaneous myiasis affecting the knee managed surgically with full recovery. Such case has not reported previously in the literature, and detailed management plan is described. [ABSTRACT FROM AUTHOR]

Background/Aim. Dystrophic epidermolysis bullosa (DEB) is characterized by distinct systemic and skin changes, as well as numerous oral manifestations. The aim of the study was to examine oral and perioral soft tissues and oral functions in DEB patients by monitoring changes over a period of one year. Methods. Twenty-four patients (1 month to 36 years old) were clinically examined initially (T0), after 6 months (T6), and after 12 months (T12). Appearance and localization of perioral and oral bullae and scars, maximum mouth opening, reduced vestibule depth, absence of lingual papillae and palatal rugae, and restricted tongue movement due to scarring were monitored. The values of maximum mouth opening at the initial examination were compared to those measured in the healthy con-trol group of the same age. The age of patients and differences between the dominant and recessive subtypes of DEB were analyzed. Results. The average maximum mouth opening was significantly lower in DEB patients compared to healthy individuals. Oral and perioral bullae and scars, microstomia, and reduced vestibule depth were very common, with no statistically significant difference among T0, T6, and T12. The prevalence of restricted tongue movement due to scarring and the absence of lingual papillae and palatal rugae increased significantly over one year. Patients with microstomia, vestibule depth, and restricted tongue movement due to scarring were significantly older than patients without these characteristics. Lingual papillae and palatal rugae were more frequently absent in recessive than dominant DEB. Conclusion. DEB causes significant changes in oral and perioral soft tissues and oral functions impairment.