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Dermatology · Dermatology / Genodermatoses

Olmsted syndrome

also: Mutilating palmoplantar keratoderma with periorificial plaques

Mutilating palmoplantar keratoderma with periorificial keratotic plaques.

Specialty
Dermatology
Subspecialty
Dermatology / Genodermatoses
Sex & age distribution
Male: affected; Female: affected; Children: yes, from infancy
Gene(s) involved
MBTPS2, TRPV3
Alternative names & eponyms
Mutilating palmoplantar keratoderma with periorificial plaques

Etiology & mechanism

Gain-of-function TRPV3 channel signaling.

Gene(s) involved (2)

Symptoms & signs (6)

In plain terms, someone with Olmsted syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

Other syndromes that involve one of this syndrome's genes.

Overlapping symptoms

Other syndromes that share symptoms with this one.

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