KID syndrome

Also known as: Keratitis–ichthyosis–deafness syndrome

Erythrokeratoderma with vascularizing keratitis and deafness.

Medical specialty: Dermatology
Subspecialty: Dermatology / Genodermatoses
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, from infancy
Gene(s) involved: AP1B1, GJB2, GJB6

Etiology & mechanism

Gain-of-function connexin 26 hemichannel mutations.

Gene(s) involved (3)

AP1B1GJB2GJB6

Symptoms & signs (7)

alopeciaerythrokeratodermakeratitispalmoplantar keratodermasensorineural deafnessskin infectionssquamous cell carcinoma

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