Le diagnostic anténatal des génodermatoses

Abstract

The rapid development of techniques available for fetal examination and tissue sampling, coupled with novel methods for enzymological, cytogenetic and DNA analysis has enabled the intrauterine detection of fetal skin disorders to become an integral part of the management of several genetic skin diseases. The relevance of new prenatal diagnostic methods to genetic diseases with major cutaneous manifestations is still largely limited to the detection of structural abnormalities in fetal skin biopsies (epidermolysis bullosa, keratinization disorders, pigmentation disorders). But the enormous advances in molecular biology of the epidermolysis bullosa group and the epidermolytic hyperkeratosis will soon allow identification of affected fetuses and possibly carriers.