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Mal de Meleda without mutations in the ARS coding sequence
Maurice A M van Steensel1, Michel Van van Geel, Peter M Steijlen
1Department of Dermatology, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands. m.vanstensel@derma.azn.nl
European Journal of Dermatology : EJD
|March 2, 2002
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.