EPIDERMOLYSIS-BULLOSA PRURIGINOSA - DYSTROPHIC EPIDERMOLYSIS-BULLOSA WITH DISTINCTIVE CLINICOPATHOLOGICAL FEATURES

We report a study of eight unrelated adult patients with a highly distinctive phenotype of dystrophic epidermolysis bullosa. It is characterized clinically by pruritus, lichenified or nodular prurigo-like lesions, violaceous linear scarring, occasional trauma-induced blistering, excoriations, milia, nail dystrophy and, in some cases, albopapuloid lesions on the trunk. The scarring is most evident on the limbs, particularly on the shins, with relative sparing elsewhere. Intact blisters are rarely seen. Physical signs were present at birth in three patients, but in the others skin manifestations were first noticed between 6 months and 10 years of age. Five cases are sporadic, but three of the eight patients have a history of familial involvement, with autosomal dominant inheritance in two cases and recessive transmission in the other case. Studies of the dermal-epidermal junction showed alterations in the number and ultrastructure of anchoring fibrils in lesional, perilesional and non-lesional skin, consistent with a diagnosis of dominant or localized recessive dystrophic epidermolysis bullosa. These patients represent an unusual, poorly recognized form or expression of dystrophic epidermolysis bullosa which has features in common with a variety of acquired inflammatory dermatoses.