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Mal de Meleda

Definition:

Mal de Meleda is an autosomal recessive palmoplantar keratoderma characterized by erythema of the palms and soles, followed by a diffuse yellowish hyperkeratosis. Keratinization extends onto the dorsal surface of the hands and feet as the patient ages. It is associated with brachydactyly and nail abnormalities. Mental retardation may also occur.

References:

[1]. Katja Martina Eckl, et al. Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Hum Genet. 2003 Jan;112(1):50-6. [Content Brief]

[2]. Peter H Itin, et al. Palmoplantar keratodermas. Clin Dermatol. 2005 Jan-Feb;23(1):15-22. [Content Brief]

[3]. Slaheddine Marrakchi, et al. Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda. J Invest Dermatol. 2003 Mar;120(3):351-5. [Content Brief]

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