Anais Brasileiros de Dermatologia
versão On-line ISSN 1806-4841
SOUZA, Márcio José Silva de et al. Epidermolysis bullosa pruriginosa: case report. An. Bras. Dermatol. [online]. 2005, vol.80, suppl.3, pp. S370-S372. ISSN 1806-4841. http://dx.doi.org/10.1590/S0365-05962005001000018.
Epidermolysis bullosa pruriginosa is a rare genetic disease that the pattern of inheritance still remains not established in the literature. The genetic defect, that disturbes the type VII collagen encoding, is located on the short arm of chromosome 3, with mutation in gene COL7A1. We report a male patient that was affected by itching on the legs for about 15 years, and the diagnostic was made based on clinicopathological features. Due to low frequency of this disease, we performed a brief review about this topic.
Palavras-chave : Collagen; Epidermolysis bullosa dystrophica; Thalidomide.