Olmsted syndrome

Also known as: Mutilating palmoplantar keratoderma with periorificial plaques

Mutilating palmoplantar keratoderma with periorificial keratotic plaques.

Medical specialty: Dermatology
Subspecialty: Dermatology / Genodermatoses
Sex & age distribution: Male: affected; Female: affected; Children: yes, from infancy
Gene(s) involved: MBTPS2, TRPV3

Etiology & mechanism

Gain-of-function TRPV3 channel signaling.

Gene(s) involved (2)

MBTPS2TRPV3

Symptoms & signs (6)

alopeciaconstriction bandsnail dystrophypalmoplantar keratodermaperiorificial plaquespruritus

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.