NON-HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA - THE IMPORTANCE OF PRENATAL DIAGNOSIS

• Autor(a) principal: Lopes, Leonor
• Data de Publicação: 2015
• Outros Autores: Leal Filipe, Paulo, Sousa, Ana Berta, Lages, Maria João, Dinis, Fernanda, Gouveia, Carolina
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://doi.org/10.29021/spdv.72.4.327
• topic: Epidermolysis bullosa; junctional; Infant; Prenatal diagnosis; Epidermólise bolhosa juncional não-Herlitz; Diagnóstico prénatal; Recém-nascido

Junctional epidermolysis bullosa is a group of inherited blistering diseases characterized by increased skin fragility, blisters and erosions after minor trauma, due to tissue cleavage at the dermal-epidermal junction. We report the case of a male Caucasian infant, born with erosions and tense blisters on the hands, abdomen and scalp. Immunoflurescence antigen mapping revealed paucity of collagen XVII immunolabelling, compatible with the diagnosis of non-Herlitz junctional epidermolysis bullosa. Molecular analysis of the COL17A1 gene revealed compound heterozygosity for two frameshift mutations. Family history was positive for a brother with a bullous dermatosis, who died from sepsis on the 3rd week of life without a definitive diagnosis that could enable precise risk estimation and prenatal diagnosis. We emphasize the importance of rapid referral to specialized centers, to provide early accurate diagnosis, adequate clinical management and prenatal diagnosis in subsequent pregnancies.