Pitted enamel hypoplasia in tuberous sclerosis patients and first-degree relatives

Thirty-six families with tuberous sclerosis (TS) including 49 affected persons and 68 apparently unaffected first-degree relatives were examined for dental abnormality. Fifty unrelated controls were similarly examined. Clinically observed multiple enamel pits (pitted enamel hypoplasia) were noted in 71% of persons with typical TS and in one out of 10 "atypical" cases. Enamel pits were rarely seen, and in small numbers only, in the control series, and they were rare in the otherwise apparently normal TS first-degree relatives. However, one parent and one half-sib of persons with typical TS, but themselves without other signs of TS, were found to have multiple enamel pits. Examination for pitted enamel hypoplasia should be made in all persons suspected of having TS and in all close relatives; enamel pits are a valuable clinical sign and may identify otherwise unsuspected carriers of the gene within the family.