Epidermólise bolhosa distrófica pruriginosa: relato de caso

Abstract

A epidermólise bolhosa distrófica pruriginosa é doença genética rara cujo padrão de herança ainda não está bem estabelecido na literatura. O defeito genético, que envolve a codificação do colágeno tipo VII, está localizado no braço curto do cromossomo 3, ocorrendo mutação no gene COL7A1. Apresenta-se o caso de um paciente do sexo masculino que referia prurido nas pernas há cerca de 15 anos, cujo diagnóstico foi firmado com base nos exames dermatológico e imuno-histopatológico. Devido à raridade dessa condição patológica, realiza-se breve revisão do tema.

Pretibial dystrophic epidermolysis bullosa

“…4 The result of this anomaly is the modification in the structure and number of anchoring fibrils, of which collagen type VII is part of, leading to the loss of adherence between epidermis and dermis. 6 Due to cutaneous fragility, the lesions are preferably lo- Clinically, dominant DEB has the following types: 1) generalized, 2) acral, 3) pretibial, 4) pruriginosa, 5) nails only and 6) bullous dermatolysis of the newborn. 4 Pretibial DEB is a rare variant, clinically differentiated from the other forms by the presence of more localized lesions, with blisters and erosions, scarring, milia, frequent pruritus and nail dystrophy.…”

Pretibial dystrophic epidermolysis bullosa

“… 4 The result of this anomaly is the modification in the structure and number of anchoring fibrils, of which collagen type VII is part of, leading to the loss of adherence between epidermis and dermis. 6 Due to cutaneous fragility, the lesions are preferably located on the pretibial regions, but they can also affect the forearms, dorsum of the hands and feet, and also the nails. The intense pruritus contributes to the formation of lesions.…”