title: Epidermolysis bullosa herpetiformis with mottled pigmentation and an unusual punctate keratoderma.
abstract: We report the clinical and pathological features of an epidermolytic form of epidermolysis bullosa (EB) present in a family with six affected members that was transmitted in an autosomal dominant manner in four generations. The essential clinical features included generalized herpetiform blistering of the skin, mottled pigmentation and palmo-plantar hyperkeratosis, both punctate and diffuse. Biopsy material obtained from fresh blisters, clinically intact preblistering skin, hyperkeratotic areas, and skin with mottled pigmentation was examined by light and/or electron microscopy. In addition to reporting a heretofore undescribed association of EB herpetiformis with mottled pigmentation and punctate keratoderma, we report previously undescribed histologic changes in the areas of punctate hyperkeratosis. Specifically, the unique histologic findings consisted of the presence of dyskeratotic cells with clear cytoplasm at the cellular periphery, parakeratosis, and involvement of the intradermal portion of the sweat duct. The possibility that these findings represent a new type of epidermolytic EB, rather than a variant of other types of epidermolytic EB, particularly EB herpetiformis or EB with mottled pigmentation, is discussed.
mesh_terms: D000328:Adult; D000368:Aged; D002675:Child, Preschool; D004820:Epidermolysis Bullosa / Q000235:genetics / Q000473:pathology*; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics / Q000473:pathology; D008297:Male; D008853:Microscopy; D008854:Microscopy, Electron; D008875:Middle Aged; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics / Q000473:pathology; D012867:Skin / Q000473:pathology / Q000648:ultrastructure