Olmsted syndromeA rare congenital 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 the keratotic areas.
Defects in TPRV3, which encodes a nonselective cation channels involved in vasoregulation and temperature sensation, cause Olmsted syndrome.
Olm·sted syn·drome(ōlm'sted sin'drōm)
Olmsted,H.C., 20th century U.S. pediatrician.
Olmsted syndrome - congenital palmar, plantar, and periorificial keratoderma leading to flexion contractures and digital spontaneous amputation, hyperkeratotic plaques around body orifices, and onychodystrophy. Synonym(s): mutilating palmoplantar keratoderma with periorificial keratotic plaques