Pseudoxanthoma elasticum in South Africa--genetic and clinical implications

After investigation by a multidisciplinary team, 19 cases of biopsy-proven pseudoxanthoma elasticum are described. Evidence for an increased gene frequency in the Afrikaner population was found, as was support for the claim of genetic heterogeneity in the disorder. The well-described clinical manifestations involving the eyes, skin and cardiovascular system were seen, as were more rarely reported features such as acne, telangiectasia of the lips and bilateral cataracts. Mitral valve prolapse and gastro-intestinal haemorrhage were not found in our patients, although there are several reports in the literature.