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


METHODS
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.
Bouadjar
B
B
Department of Dermatology, CHU of Bab-El-Oued, Algiers, Algeria. bouadjar@mail.wissal.dz
Benmazouzia
S
S
Prud'homme
J F
JF
Cure
S
S
Fischer
J
J
D017255:Acitretin / Q000627:therapeutic use; D000293:Adolescent; D000328:Adult; D000462:Algeria; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007645:Keratoderma, Palmoplantar / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D007641:Keratolytic Agents / Q000627:therapeutic use; D008297:Male; D010375:Pedigree
D007641:Keratolytic Agents; D017255:Acitretin