Mal de Meleda (MDM) is a rare form of recessive transgressive palmoplantar erythrokeratoderma for which mutations in the ARS gene have been identified recently. The ARS gene encodes SLURP-1, a secreted epidermal neuromodulator involved in epidermal homeostasis and inhibition of tumor necrosis factor-α release. A 27-year-old Taiwanese woman who had a history of palmoplantar keratoderma since birth presented with severe erythrokeratoderma of the hands and feet in a glove-and-stocking distribution with conical tapering of the fingers, and involvement of the skin over the major joints and thighs. There were also widespread molded hyperpigmented macules. Mutation analysis revealed a homozygous missense mutation (G86R) in exon 3 of ARS gene of this patient.
|Number of pages||3|
|Journal||Journal of the Formosan Medical Association|
|Publication status||Published - 2005|
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