[Dowling-Meara dominant epidermolysis bullosa. An intraepidermal epidermolysis bullosa which hides its prognosis well]

Abstract

The epidermolysis bullosa simplex (intraepidermal) disorders represent a heterogeneous group of bullous diseases all inherited in an autosomal dominant mode. The prognosis is usually good and the bullous lesions heal without scarring. We present here three patients affected with intraepidermal epidermolysis bullosa of the Dowling-Meara type with varying prognoses. Case n. 1. This 4-year-old girl was first seen at the age of 15 months for numerous bullous lesions distributed over her entire skin surface and on her oral mucosa. The blisters, first noted shortly after birth, showed an herpetiform distribution and a thick and hyperkeratotic roof. A yellowish palmoplantar keratoderma was also present. At the age of four the bullous eruption remained extremely severe. The family history revealed no similar cutaneous disorders. Histology showed focal intraepidermal separation and ultrastructural examination revealed that the split occurred above the dermoepidermal junction within the basal cell cytoplasm. Tonofilament clumping was observed. The dermoepidermal junction was normal with hemidesmosomes and anchoring fibrils showing no significant abnormalities. Case n. 2. This 8-year-old boy presented at the age of 5 with numerous bullous lesions involving most of the skin surface and mucosa. The family history was unremarkable. The blisters, present since birth, were numerous and were often circinate with central healing. Palmoplantar keratoderma was noted. Electron microscopy showed intraepidermal separation occurring in the basal cell layer with tonofilament clumping.(ABSTRACT TRUNCATED AT 250 WORDS)