This 4 week old girl was born with multiple cutaneous, gastrointestinal, and orthopedic anomalies. The presence of syndactyly, ectrodactyly, linear atrophic yellow plaques with telangiectasias, and longitudinal striations in the metaphyseal areas of the long bones in this child is typical of focal dermal hypoplasia. Skin biopsy from one of the ankle plaques revealed atrophy of the dermis and herniated fat just beneath the epidermis. Other associations with this X-linked dominant disorder lethal in most males include ocular anomalies, dental anomalies, papillomas of the skin and mucous membranes, and mental retardation in 15 percent of cases.
Description
yellow pink atrophic round and linear plaques with telangiectasias
