Trichoodontoonychial Dysplasia With Bone Deficiency

Clinical Features

Pinheiro et al. (1983) described an apparently 'new' form of ectodermal dysplasia in 4 sisters in a sibship of 8 women and 5 men. The condition combined severe hypotrichosis, hypoplasia of enamel leading to secondary anodontia, dystrophic nails, supernumerary nipples, nevus pigmentosus, and bone deficiency in the frontoparietal region. The proposita had an extensive area of alopecia on top of the head with only a peripheral fringe of hair in the temporal and occipital regions, where the hair was dry, brittle, and sparse. A large number of pigmented nevi were present on the skin, and she had mild palmoplantar hyperkeratosis. Intelligence was normal. Although not known to be related, the parents were both born in an 'endogamous community of the interior of Brazil.'

Inheritance

The inheritance of ectodermal dysplasia in the family described by Pinheiro et al. (1983) appeared to be autosomal recessive.