Chilblain lupus syndrome

Also known as: Familial chilblain lupus

Familial chilblain lesions with lupus features.

Medical specialty: Rheumatology
Subspecialty: Rheumatology / Interferonopathies
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: SAMHD1, TREX1

Etiology & mechanism

TREX1 or SAMHD1 variants.

Gene(s) involved (2)

SAMHD1TREX1

Symptoms & signs (4)

antinuclear antibodiesarthritiscold-induced chilblainsphotosensitivity

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