Dominant dystrophic epidermolysis bullosa albopapuloidea Pasini -- ultrastructural observations of albopapuloid lesions and a type VII collagen DNA polymorphism study of a family.

Abstract

We describe a case of dominant dystrophic epidermolysis bullosa (DDEB) albopapuloidea Pasini. The patient was a 42-year-old female with albopapuloid lesions on her back, which had developed when she was 17. Histological examination of the albopapuloid lesions showed prominent proliferation of immature collagen bundles and deposition of amorphous material, which stained positively with Alcian blue. Electron microscopy of her albopapuloid lesions revealed marked nodular proliferation of collagen bundles from just beneath the basal lamina to the mid-dermis. In the light of these findings, we speculate that such albopapuloid lesions result from a reactive accumulation of collagen and glycosaminoglycan occurring on the EB skin. A PvuII and AluI polymorphism study of type VII collagen DNA from the patient's family suggests that the candidate gene for DDEB in her pedigree could be the type VII collagen gene.