Focal dermal hypoplasia.

Attention was drawn by Goltz, Peterson, Gorlin, and Ravits (1962) to a rare syndrome of multiple congenital defects affecting tissues of both mesodermal and ectodermal origin. The universal feature of their three initial cases was the skin abnormality, which consisted of areas of extremely thin or absent dermis, frequently with localized herniations of subcutaneous fat into the epidermis appearing as reddish-yellow soft nodules. Streaks of telangiectasia and linear or reticular areas ofhyperor hypopigmentation were also seen in the skin, together with papillomata on the lips. Associated congenital anomalies were commonly seen in the skeleton, the mouth and teeth, the eyes, and other organs. The general physical and mental development were often retarded.