Mal de Meleda without mutations in the ARS coding sequence.

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.
AuthorsMaurice A M van Steensel, Michel Van van Geel, Peter M Steijlen
JournalEuropean journal of dermatology : EJD (Eur J Dermatol) 2002 Mar-Apr Vol. 12 Issue 2 Pg. 129-32 ISSN: 1167-1122 [Print] France
PMID11872406 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Antigens, Ly
  • SLURP1 protein, human
  • Urokinase-Type Plasminogen Activator
  • 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)

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