Dermoodontodysplasia

Clinical Features

In Brazil, Pinheiro and Freire-Maia (1983) studied a Caucasian family with 11 persons (7 women, 4 men) in 4 generations with a mild and variable ectodermal dysplasia manifested by skin, tooth, and nail abnormalities, except for the proband who had a more severe clinical picture including trichodysplasia. Pinheiro and Freire-Maia (1983) compared this disorder with many other similar conditions and concluded that it is a distinct entity.

Pinheiro et al. (1990) described 2 sisters and a brother with severe dental anomalies, trichodysplasia, onychodysplasia, and slight skin alterations. The father and several relatives on his side had minor dental anomalies.

Inheritance

Male-to-male transmission and an 11 unaffected:10 affected segregation ratio in the family reported by Pinheiro and Freire-Maia (1983) supported autosomal dominant inheritance.