Focal dermal hypoplasia (Goltz syndrome). Report of a case.

Abstract

Focal dermal hypoplasia (Goltz syndrome) is a rare genetic disorder. It is characterized by very numerous meso-ectodermal multisystem abnormalities. The syndrome is transmitted by a dominant, X-linked trait, which is lethal in utero in hemizygous males. The case of a 14-year-old girl affected by the syndrome with the pathological and cytogenetic findings is here reported. She was the first case of Goltz syndrome in her family and was hospitalized due to skin manifestations and severe bone, ophthalmological and dental malformations.