Epidermolysis Bullosa Herpetiformis (Dowling-Meara) with the Presenting Sign as Congenital Localized Absence of Skin

We herein present a male newborn who had one 7×8cm2, sharply-demarcated ulcer covered by a glistening membrane over the medial aspect of the left ankle and part of the dorsal foot at birth. Multiple variable-sized blisters and erosions, mainly distributed over bilateral hands, feet and periungal areas developed soon after delivery. Biopsy of the blister showed subepidermal bulla with mild perivascular inflammatory infiltration in the upper dermis. Ultrasrtuctural study revealed intraepidermal blister, basal cell cytolysis and electron-dense, round tonofilament clumps within cytoplasm of basal cells. Immunofluorescence study and Tzanck smear from the base of blister were negative. A diagnosis of epidermolysis bullosa herpetiformis Dowling-Meara (DM-EBS) with the initial presenting sign as congenital localized absence of skin (CLAS) was made. In this article, we review the clinical manifestations and the significance of tonofilament clumps in the pathogenesis of this uncommon genodermatosis.