Focal dermal hypoplasia symdrome in a male.
Focal dermal hypoplasia (Goltz syndrome) is characterized by a pathognomonic abnormality of the skin in association with other congenital defects. There are only seven males among the 52 reported cases. We report the eighth case in a male and evaluate the possible genetic origin of the syndrome. A critical review of the literature provides no evidence for the previously accepted single gene mode of inheritance.
D000015:Abnormalities, Multiple; D001284:Atrophy; D002648:Child; D006801:Humans; D008297:Male; D010859:Pigmentation Disorders / Q000151:congenital*; D012871:Skin Diseases / Q000151:congenital