Mal de Meleda in a taiwanese.
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-alpha 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 mottled hyperpigmented macules. Mutation analysis revealed a homozygous missense mutation (G86R) in exon 3 of ARS gene of this patient.
Chao
Sheau-Chiou
SC
Department of Dermatology, National Cheng-Kung University Hospital, Tainan, Taiwan.
Lai
Feng-Jei
FJ
Yang
Mei-Hui
MH
Lee
Julia Yu-Yun
JY
D000328:Adult; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics / Q000473:pathology*; D020125:Mutation, Missense