Focal dermal hypoplasia with unusual cutaneous features.
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.
Maymí
María A
MA
Department of Dermatology, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico.
Martín-García
Rafael F
RF
D002971:Cleft Lip / Q000150:complications*; D002972:Cleft Palate / Q000150:complications*; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000150:complications / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D012872:Skin Diseases, Vesiculobullous / Q000150:complications*