title: The Cockayne-Touraine type of dominant dystrophic epidermolysis bullosa--ultrastructural similarities to the Pasini variant.
abstract: Biopsies from the uninvolved skin of 5 patients with the Cockayne-Touraine (CT) type of dystrophic epidermolysis bullosa (DEB) were studied with the electron microscope. Dermal fibrillar bodies were noted in 2 patients and 3 showed basal lamina (BL) duplication or splitting. Discontinuity of the BL with herniation of keratinocyte cytoplasm was present in one patient. These changes, thought previously to be characteristic of the Pasini variant, indicate that abnormalities of the BL may be involved in blister formation in both disease subgroups.
mesh_terms: D000293:Adolescent; D000328:Adult; D001485:Basement Membrane / Q000648:ultrastructure; D004820:Epidermolysis Bullosa / Q000235:genetics / Q000473:pathology*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D012867:Skin / Q000648:ultrastructure*