Anais Brasileiros de Dermatologia
On-line version ISSN 1806-4841
GURTLER, Thaiz Gava Rigoni; DINIZ, Lucia Martins and SOUZA FILHO, João Basilio de. Recessive dystrophic epidermolysis bullosa mitis: case report. An. Bras. Dermatol. [online]. 2005, vol.80, n.5, pp. 503-508. ISSN 1806-4841. http://dx.doi.org/10.1590/S0365-05962005000600009.
Epidermolysis bullosa are congenital bullous dermatoses that lead to spontaneous or post-traumatic formation of blisters. There are three recognized disease groups, according to the second international consensus: simplex, junctional and dystrophic. The genetic defect of the dystrophic forms is due to a mutation in the COL7A1 gene, which is responsible for codifying collagen VII, the main representative of anchoring fibrils, which participate in the adherence of the "lamina densa" to the dermis. The authors describe a case of a 15 year-old female patient who presented ulcers on her legs, serous blisters and atrophic scars on her arms and body. Dystrophic ungual and dental abnormalities had also been observed since her birth. Blister histopathological examination was compatible with epidermolysis bullosa, which, in association with clinical data, allowed the classification of recessive distrophic epidermolysis bullosa.
Keywords : Collagen type VII; Epidermolysis bullosa; Epidermolysis bullosa dystrophica.