Focal dermal hypoplasia with unusual cutaneous features.

摘要

Focal dermal hypoplasia (Goltz syndrome) is a rare genetic condition characterized by numerous malformations in different organ systems derived from the ectoderm and mesoderm. We present an infant with focal dermal hypoplasia who, besides having a constellation of anomalies commonly encountered in patients with this syndrome, manifested additional unusual features such as an early inflammatory vesicular stage and a cleft lip and palate. We emphasize that a prompt, well-orchestrated and effective multidisciplinary intervention can help improve the quality of life in patients afflicted with this condition.