Introdução: A epidermólise bolhosa (EB) é caracterizada por fragilidade cutânea e formação de bolhas. O diagnóstico é feito comumente por imunomapeamento envolvendo procedimento de biópsia cutânea. Recentemente, o estudo molecular tem se mostrado uma importante ferramenta para o diagnóstico preciso dessa doença. No Brasil, o acesso a esses métodos ainda é limitado. Objetivos: Descrever o quadro clínico dos pacientes com EB; Identificar as mutações dos genes envolvidos na EB e realizar aconselhamento genético; Correlacionar os achados histológicos e de imunomapeamento com estudos moleculares. Métodos: Os 67 pacientes (60 famílias) com EB foram avaliados clinicamente e realizados o sequenciamento completo de exoma de paciente e de seus pais. Resultados: Os resultados do estudo molecular 67 pacientes (M: 34 F: 33) foram classificados em: 47 pacientes com EB distrófica recessiva, 4 com EB distrófica dominante, 15 pacientes com EB simples e 1 paciente com EB juncional. Foram encontradas variantes novas não descritas na literatura: EB distrófica recessiva 10/86 variantes no COL7A1; EB distrófica dominante 3/4 variantes COL7A1; EB simples encontrou uma variante em homozigose no KRT5 e uma variante em homozigose PLEC. O resultado do imunomapeamento em comparação com estudo molecular foi discordante em 22% dos pacientes e inconclusivo em 15%. Na EB distrófica recessiva todos pacientes apresentavam o quadro clinico com acometimento cutâneo generalizado exceto em duas pacientes irmãs com lesões localizadas pré tibiais; tres pacientes apresentaram carcinoma espinocelular e dois faleceram durante o estudo. Na EB simples, pacientes com alteração no gene PLEC autossômicos recessivos tiveram quadros clínicos mais graves que alteração nos genes KRT5 e KRT14. Conclusão: Este estudo conseguiu analisar clinicamente e classificar de maneira precisa de todos os pacientes pelo estudo molecular, assim oferecer o aconselhamento genéticos adequado à família. Recomendamos o sequenciamento completo de exoma como método de escolha para o diagnóstico de EB

Introduction: Epidermolysis bullosa (EB) is characterized by skin fragility and blistering. Diagnosis is commonly made by immunomapping involving a skin biopsy procedure. Recently, molecular studies have proved to be an important tool for the accurate diagnosis of this disease. In Brazil, access to these methods is still limited. Objectives: To describe the clinical picture of patients with EB; Identify mutations in genes involved in EB and carry out genetic counseling; Correlate histological and immunomapping findings with molecular studies. Methods: The 67 patients (60 families) with EB were clinically evaluated and complete exome sequencing of the patient and his parents was performed. Results: The results of the molecular study 67 patients (M: 34 F: 33) were classified into: 47 patients with recessive dystrophic EB, 4 with dominant dystrophic EB, 15 patients with simple EB and 1 patient with junctional EB. New variants not described in the literature were found: recessive dystrophic EB 10/86 variants in COL7A1; dominant dystrophic EB 3/4 variants COL7A1; Simple EB found a homozygous variant in KRT5 and a homozygous variant in PLEC. The result of immunomapping compared to molecular study was discordant in 22% of patients and inconclusive in 15%. In recessive dystrophic EB, all patients had the clinical picture with generalized skin involvement, except for two sister patients with localized pre-tibial lesions; three patients had squamous cell carcinoma and two died during the study. In simple EB, patients with alterations in the autosomal recessive PLEC gene had more severe clinical conditions than alterations in the KRT5 and KRT14 genes. Conclusion: This study was able to clinical analysis and accurately classify all patients by molecular study, thus offering appropriate genetic counseling to the family. We recommend complete exome sequencing as the method of choice for the diagnosis of EB