Mal de Meleda without mutations in the ARS coding sequence.

Abstract

Mal de Meleda (Mal de Mljet) is a recessive palmoplantar hyperkeratosis associated with hyperhidrosis, brachydactyly and sometimes pseudo-ainhum. It was recently discovered to be caused by mutations in the ARS gene on chromosome 8. Here we report a patient suffering from Mal de Meleda not associated with ARS mutations. The related E48 and GML genes were also excluded.