Epidermolysis bulosa simplex Weber-Cockayne – case report

Written by Fekete Gyula László, Fekete Júlia Edit, Morariu Silviu Horia

Epidermolysis bulosa are congenital bullosus diseases, characterized by the appearance of bulla at the dermoepidermic junction, formed especially after traumas, but spontaneously too. The Weber-Cockayne clinical form is part of the simple epidermolysis group, noncicatriceal, with palmo-plantar localization, transmitted in autosomal dominant mode. We present the case of a 9 month old girl, in which palmar bullas with serocitrin liquid appeared at the age of 6 month . These appeared after minor traumas and after bath. The erosions healed without cicatrix in a few days. We excluded other bullosus diseases. Anamnestic reveals the existence of genetic skin diseases in the family, the grandmother and the uncle from the mother’s side suffering from congenital palmo-plantar keratodermia in a minor form. The case is interesting because is rare (one case to 50000 births), and also because the existence of other congenital skin diseases in the family, fact mentioned in the literature.

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