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.

• Authors: Maurice A M van Steensel, Michel Van van Geel, Peter M Steijlen
• Journal: European journal of dermatology : EJD (Eur J Dermatol) Vol. 12 Issue 2 Pg. 129-32 ( 2002) ISSN: 1167-1122 [Print] France
• PMID: 11872406 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Antigens, Ly
• SLURP1 protein, human
• Urokinase-Type Plasminogen Activator

Topics

• Antigens, Ly (genetics)
• Child
• Chromosomes, Human, Pair 8 (genetics)
• DNA Mutational Analysis
• Female
• Humans
• Keratoderma, Palmoplantar (diagnosis, genetics)
• Mutation
• Polymerase Chain Reaction
• Urokinase-Type Plasminogen Activator (genetics)