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

We report a study of eight unrelated adult patients with a highly dist inctive phenotype of dystrophic epidermolysis bullosa. It is character ized clinically by pruritus, lichenified or nodular prurigo-like lesio ns, violaceous linear scarring, occasional trauma-induced blistering, excoriations, milia, nail dystrophy and, in some cases, albopapuloid l esions on the trunk. The scarring is most evident on the limbs, partic ularly on the shins, with relative sparing elsewhere. Intact blisters are rarely seen. Physical signs were present at birth in three patient s, 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 ot her case. Studies of the dermal-epidermal junction showed alterations in the number and ultrastructure of anchoring fibrils in lesional, per ilesional and non-lesional skin, consistent with a diagnosis of domina nt or localized recessive dystrophic epidermolysis bullosa. These pati ents represent an unusual, poorly recognized form or expression of dys trophic epidermolysis bullosa which has features in common with a vari ety of acquired inflammatory dermatoses.