Ectodermal Dysplasia With Natal Teeth, Turnpenny Type

Clinical Features

Turnpenny et al. (1994, 1995) reported a 4-generation Scottish family in which several members had ectodermal dysplasia predominantly affecting the teeth, but also involving the hair and skin. Hypo/oligodontia of the secondary dentition was characteristic by late adolescence, but 2 individuals had multiple natal teeth. Flexural acanthosis nigricans during childhood and early adolescence was present in some affected women. Heat tolerance was variable, but all subjects sweated. Scalp hair was thin and slow growing (except in affected women during pregnancy), and body hair was scanty. Nails were normal. Although some manifestations resembled those in the Clouston syndrome (129500), Turnpenny et al. (1994) suggested that these cases represent a distinct form of ectodermal dysplasia.

Inheritance

The pedigree pattern in the family with ectodermal dysplasia reported by Turnpenny et al. (1995) was consistent with autosomal dominant inheritance.