Epidermolysis bullosa simplex(EBS) is a group of autosomal dominantly inherited genetic disorders characterized by blistering due to mechanical- stress-induced degeneration of basal epidermal cells. Recently, it was discovered that EBS is induced
by
keratin 5 and 14 gene mutations. Weber-Cockayne(W-C) EBS is the mildest type, with blistering concentrates primarily on palmar and plantar regions, and basal cell cytolysis by keratin filament perturbations is present. Herein we report a case of
W-C EBS
with its ultrastructural findings. Electron microscopy showed cytolysis and separation of the basal epidermal cells, mainly at the subnuclear cytoplasm. The cytoplasm of basal cells showed edema, loosening and intact mitochondria. Besides the
cytoplasmic changes, the nucleus also showed lytic degeneration. Characteristically, dense condensation of tonofilament was observed, which suggests that W-C EBS is also a disorder of keratin. (Kor J Dermatol 1997;35(1) : 214∼219)
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