Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome.

Abstract

A syndrome consisting of congenital absence of skin, affecting the lower extremities, blistering of skin and mucous membranes, and congenital absence and deformity of nails, is described in a kinship. The mode of inheritance is that of a fully penetrant, autosomal dominant gene. Expressivity of the syndrome is variable. Review of the congenital localized aplasias of skin and of the various forms of epidermolysis bullosa suggests that this may be a new syndrome.