Kindler syndrome

Also known as: Kindler–Weary syndrome

Blistering with poikiloderma and photosensitivity.

Medical specialty: Dermatology
Subspecialty: Dermatology / Genodermatoses
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, blistering from birth
Gene(s) involved: FERMT1

Etiology & mechanism

Loss of kindlin-1 impairing keratinocyte-matrix adhesion.

Gene(s) involved (1)

FERMT1

Symptoms & signs (7)

acral blisteringesophageal stricturegingivitismucosal stenosisphotosensitivitypoikilodermaskin atrophy

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