Olmsted syndrome

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Olmsted syndrome2016-11-27T15:26:25+00:00

Olmsted syndrome   

DERMATOLOGY

A rare autosomal dominant disorder (OMIM:614594) characterised by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus, variably accompanied by diffuse alopecia, constriction of digits–which may progress to autoamputation of fingers and toes, onychodystrophy, infections and squamous cell carcinomas arising on keratotic areas.

Molecular pathology Defects in TPRV3, which encodes a nonselective cation channels involved in vasoregulation and temperature sensation, cause this syndrome.

Synonym Palmoplantar keratoderma—mutilating—with periorificial keratotic plaques 

Note: Whilst palmoplantar keratoderma—mutilating—with periorificial keratotic plaques is the “official term” (used in the OMIM database), the much simpler Olmsted syndrome is widely preferred

References http://www.uniprot.org/uniprot/Q8NET8

http://www.omim.org/entry/614594   

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