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.
Subject(s)
Epidermolysis Bullosa , Tertiary Care Centers , Humans , Male , Female , Brazil/epidemiology , Tertiary Care Centers/statistics & numerical data , Retrospective Studies , Epidermolysis Bullosa/epidemiology , Epidermolysis Bullosa/pathology , Child , Adult , Young Adult , Child, Preschool , Adolescent , Middle Aged , Infant , Consanguinity , Sex Distribution , Age Distribution , AgedABSTRACT
A doença de Grover, ou dermatose acantolítica transitória, consiste em uma dermatose papulovesiculosa pruriginosa, caracterizada histologicamente por acantólise. A maior parte dos casos está representada por homens brancos acima de 40 anos de idade. Não existeetiologia conhecida, mas o calor e o suor excessivos são descritos com frequência como fatores desencadeantes ou agravantes. O diagnóstico é feito por suspeição clínica e confirmado pela biópsia das lesões cutâneas. Neste estudo é relatado o caso de um paciente de 53 anos de idade, com doença de Grover associada à infestação por Sarcoptes scabiei.
Grover?s disease, or transient acantholytic dermatosis, consists of a papulovesicular pruritic dermatosis histologically characterized by acantholysis. Most cases are represented by white men above 40 years of age. There is no known etiology; however, heat and excessive sweating are frequently described as triggering or aggravating factors. The diagnosis is made by clinical suspicion and confirmed by biopsy of cutaneous lesions. In this study the case of a 53-year-old patient is reported with Grover?s disease associated with infestation by Sarcoptes scabiei.
