Malformations and genodermatoses

Abstract

Numerous malformations also or exclusively affect the skin. Some of them are obvious and unmistakable, others are discreet, occurring at hidden localizations and are only discovered with the course of time. As can be seen from the example of aplasia cutis congenita, the cutaneous developmental abnormalities discussed in this chapter often occur in isolation and then usually have only a minor significance, but they can also have a signaling function for partially serious underlying diseases and complex syndromes. Knowledge of the cutaneous markers of serious developmental disorders and their differentiation from harmless varieties of nature can help to avoid serious complications and irreversible consequences if diagnostic evaluation and therapy are carried out in good time. Of particular relevance are here the skin signs of occult cranial and spinal dysraphism.