FOCAL DERMAL HYPOPLASIA

This is the tenth case of “Focal Dermal Hypoplasia” to he reported in the world literature. She is a girl of seventeen who showed many of the cutaneous features accepted as characteristic of the syndrome, namely: atrophic spots, widespread telangiectatic and angiomatous malformations that followed a linear pattern in some parts of the body, bizzare areas of hyperpigmentation, and soft raised lipomatous tumours which histologically show absence of the corium and its replacement by fat containing cells. Many of the osseous dysplasias were also well presented in this case. The naevoid origin of this syndrome has been discussed. All the cases reported, so far, are females and the genetic influence of this phenomenon has also been discussed. All the members of the family of the ease under consideration, including her parents showed high levels of serum alkaline phosphatase. Her two rachitic twin brothers showed in addition to the very high levels of serum alkaline phosphatase, low serum phosphorous and amino aciduria. These associated findings are the first to be reported in the literature. However, their significance still needs further consideration. © 1969 S. Karger AG, Basel.