Palmar dermatoglyphs in tuberous sclerosis.

Dermatoglyphs are well established as useful physical signs in patients with chromosome abnormalities, as well as being of interest in patients with certain congenital malformations. What is still unclear, however, is whether single gene disorders can directly affect dermatoglyphs. The dermatoglyphic changes found in the Holt-Oram syndrome (Rosner and Aberfeld, 1970) are often claimed to be an example of a single gene disorder affecting the dermatoglyphs, although the dermatoglyphic abnormalities in this condition are quite clearly due to the hand deformity and not the gene per se. In the same way, anonychia affects fingerprint patterns (Penrose, 1968), but this is only a secondary effect of the nail abnormality. The claim that Wilson's disease is associated with increased whorls (Hodges and Simon, 1962) has been refuted (David, 1971a; David and Ajdukiewicz, 1972) and normal dermatoglyphs have been reported in phenylketonuria (Alter, 1967). The only remaining claims, that patients with thalassaemia (Rosner and Spriggs, 1969) and patients with Huntington's chorea (Barbeau, Trudeau, and Coiteux, 1965) have minor dermatoglyphic differences from control groups, both require confirmation. Recently, females with congenital virilizing adrenal hyperplasia have been reported to have significantly larger pattern size, but it was suggested that this was the result of increased growth from the 3rd month of intrauterine life, and therefore this is not a direct genetic effect (Qazi and Thompson, 1971). Dermatoglyphs have been studied in patients with tuberous sclerosis for 2 reasons. Firstly, it is known that this disease is inherited as an autosomal dominant condition (Nevin and Pearce, 1968)-with a substantial proportion of cases representing new mutations (Bundey and Evans, 1969)-and hence this is an appropriate condition to look for evidence of a single gene disorder having characteristic dermatoglyphs. Secondly, striking dermatoglyphic abnormalities, if found, would be a useful aid to cliagnosis.