focal dermal hypoplasia

focal dermal hypoplasia, an autosomal-dominant X-linked disorder found exclusively in females, characterized by linear areas of dermal hypoplasia with herniation of underlying tissue through the defects. There are also telangiectasias, areas of discoloration, localized fatty deposits, papillomas of mucous membranes around orifices, and limb anomalies such as syndactyly, adactyly, and oligodactyly. Also called Goltz’s syndrome.

Focal dermal hypoplasia (Hordinsky, Sawaya, and Scher, 2000)