Dentin dysplasia type II: absence of type III collagen in dentin

A three-generation family with dentin dysplasia (DD) Type II is presented. Affected family members share common radiologic features with clinically varied expression of tooth discoloration and occlusal wear. Both the primary and the permanent dentition appear to be affected. No generalized connective tissue involvement is found. The mode of inheritance is autosomal dominant. Histologically, the findings are consistent with DD Type II. In indirect immunofluorescence, the irregular radicular dentin of an affected permanent tooth failed to stain with specific antibodies against Type III collagen and the N-terminal propeptide of Type III procollagen.