Epidermolysis bullosa pruriginosa

Epidermolysis bullosa pruriginosa (EBP) is a unique form of dystrophic epidermolysis bullosa with marked pruritus, intermittent blistering, violaceous linear plaques mainly on shins and forearms, milia formation and toe nail dystrophy. EBP may present either at birth, during infancy or childhood. Most cases are sporadic. However, both autosomal recessive and autosomal dominant inheritance are recognized in some cases. Diagnosis is mainly clinical but can be confirmed with immunofluorescence and electron microscopy. Treatment for this genetic blistering disease is unsatisfactory. We report a child with EBP and analysis of his pedigree revealed a number of similarly affected people

An 11-year-old boy, a product of non consanguineous marriage, presented with spontaneous blistering in hand and feet associated with marked pruritus. Examination revealed scarring, milia and toenail dystrophy. His mother also had similar features in her childhood and later developed linear lichenified plaques on shins, forearms, and hands. Pedigree analysis revealed an autosomal dominant inheritance. The clinical diagnosis of EBP was made, and the child was managed conservatively.