Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda.

Abstract

BACKGROUND:

Mal de Meleda (MIM 248300), also referred to as keratosis palmoplantaris transgrediens of Siemens, is a rare autosomal recessive skin disorder with a prevalence in the general population of 1 in 100,000. The main clinical characteristics are transgressive palmoplantar keratoderma, hyperhidrosis, and perioral erythema, but there are also associated features such as brachydactyly, nail abnormalities, and lichenoid plaques.

OBSERVATIONS:

We studied the clinical and genetic characteristics of 3 large, consanguineous, Algerian families, including 14 affected individuals. Homozygosity mapping of the third family confirmed localization of the responsible gene to 8qter in all 3 families.

CONCLUSIONS:

Although some differences in phenotypic expression among subjects were noted, genetic analysis of the 3 families who shared a common ethnic background indicated that a single gene is responsible for mal de Meleda in this population.

• Authors: B Bouadjar, S Benmazouzia, J F Prud'homme, S Cure, J Fischer
• Journal: Archives of dermatology (Arch Dermatol) Vol. 136 Issue 10 Pg. 1247-52 (Oct 2000) ISSN: 0003-987X [Print] United States
• PMID: 11030771 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Keratolytic Agents
• Acitretin

Topics

• Acitretin (therapeutic use)
• Adolescent
• Adult
• Algeria
• Child
• Child, Preschool
• Consanguinity
• Female
• Genetic Linkage
• Haplotypes
• Humans
• Infant
• Keratoderma, Palmoplantar (drug therapy, genetics, pathology)
• Keratolytic Agents (therapeutic use)
• Male
• Pedigree