Normal peroxisomal function and absent skeletal manifestations in Conradi-Hünermann syndrome

We describe a child with the classic cutaneous and ocular manifestations of Conradi-Hünermann syndrome in whom repeated roentgenographic studies during the first 2 years of life revealed no evidence of epiphyseal stippling. The findings in this case and others from the literature suggest that skeletal changes may be absent or show limited expression in patients with this condition and that chondrodysplasia punctata should not be considered an invariable feature of Conradi-Hünermann syndrome. Studies of peroxisomal function in our patient failed to confirm two previous reports of a significant reduction in activity of the peroxisomal enzyme dihydroxyacetone phosphate acyltransferase in this disorder.