Goltz’s Syndrome: Focal Dermal Dysplasia Syndrome (Focal Dermal Hypoplasia)

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Abstract
The case of a Japanese girl who had deformities of bone and joints on the right side, and bilateral exanthemas and tooth anomaly (hypoplasia) is reported. This congenital disorder is a mesodermal ‘dysplasia’, with some ectodermal participation. In the literature, pedigrees of patients with familial occurrence suggest a dominant mode of inheritance; their family data do not deny the Goltz hypothesis that an excess number of females is due to genes which are lethal in males. New mutation should be present because selection was certainly present by the lack of offspring. There might be cases due to phenocopy. Possible environmental factors for maldevelopment were collected from the literature and from our case.

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