[Clinical aspects and genetics of congenital skin defects]

Abstract

Congenital skin defects are uncommon anomalies in neonates, confronting the clinician with diagnostic problems because of their etiologic heterogeneity. The classifications currently in use are didactically unsatisfactory. Therefore, we propose a new classification taking account of the localization of the congenital skin defect (head, trunk, extremities) and the criterion of isolated or associated occurrence. The groups clinically defined in this way, tables showing the pathognomonic symptoms and, in addition, a short review of all syndromes involving congenital skin defects should allow a rapid diagnosis. Clinical and genetic features of the isolated congenital skin defects are also reviewed.