mal de Meleda


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Related to mal de Meleda: Huriez Syndrome

mal

 [mal] (Fr. and Sp.)
mal de Meleda symmetrical keratosis of the palms and soles associated with a dry, scaly thickening of the wrists and ankles.
mal de mer seasickness.

mal de Me·le·da

[MIM*248300]
endemic symmetrical keratoderma of the extremities occurring on the island of Meleda off the coast of Dalmatia, in Eastern Europe.

mal de Meleda

An autosomal recessive condition (OMIM:248300) causing symmetric palmoplantar hyperkeratosis and acanthosis, with circumscribed hyperkeratosis of wrists, knees, forearms, ankles, brachydactyly, koilonychia, growth and mental retardation, seen in the endogamous population of the island of Meleda off the coast of Dalmatia in former Yugoslavia.
 
Molecular pathology
Mal de Meleda is caused by a mutation of SLURP1 on chromosome 8q24.3.

Mal de Meleda

An autosomal recessive condition (OMIM:248300) causing symmetric palmoplantar hyperkeratosis and acanthosis, with circumscribed hyperkeratosis of wrists, knees, forearms, ankles, brachydactyly, koilonychia, growth and mental retardation, seen in the endogamous population of the island of Meleda off the coast of Dalmatia in former Yugoslavia.
 
Molecular pathology
Mal de Meleda is caused by a mutation of SLURP1 on chromosome 8q24.3.
References in periodicals archive ?
We report this case due to the identification of a novel gene mutation in a patient with mal de Meleda, a palmoplantar keratoderma.
Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda. Arch Dermatol 2000; 136: 1247-52.
Mal de meleda with lip involvement: a report of two cases.
Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda. Hum Mol Genet 2003;12:3017-3024.
A novel mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda. Br J Dermatol 2006;155:467-469.