Displasia Ectodérmica hipohidrótica, caso clínico y revisión de la literatura

Abstract

Hypohydrotic ectodermal dysplasia (DEH) is a genetic disease characterized by hypohydrosis, hypotrichosis and hypodontia. It commonly affects males with an X-linked recessive inheritance, although variants exist with mendelian autosomal dominant and recessive patterns. The early recognition of the disorder is important, since the children can present with heat intolerance, fever, severe hyperthermia and even sudden death. We present the case of a 7 year old girl, who presented with scanty hair, dental anomalies, amastia and diminished perspiration, consistent with DEH and with a probable autosomal recessive inheritance. The evolution and clinical management is discussed as well as the embryological, genetic and clinical aspects of this disease.