Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation.

Abstract excerpt

Twenty-five- and 22-y-old Japanese women, who are cousins, presented with distal skin fragility, widespread small, pigmented macules, and toenail deformity. Blisters occurred between the epidermis and the dermis with degeneration of the basal cells, suggesting epidermolysis bullosa simplex with mottled pigmentation (EBS-MP). Electron microscopy of the pigmented spots demonstrated vacuolization of basal cells as...

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