Mal de Meleda without mutations in the ARS coding sequence

Maurice A M van Steensel; Michel Van van Geel; Peter M Steijlen

Mal de Meleda without mutations in the ARS coding sequence

Eur J Dermatol. 2002 Mar-Apr;12(2):129-32.

Authors

Maurice A M van Steensel¹, Michel Van van Geel, Peter M Steijlen

Affiliation

¹ Department of Dermatology, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands. [email protected]

PMID: 11872406

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

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