Síndrome de kindler esporádica com uma mutação não descrita previamente

Abstract

We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bul-losa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene. © 2013 by Anais Brasileiros de Dermatologia.