PAPA syndrome

Also known as: Pyogenic arthritis, pyoderma gangrenosum and acne

Sterile pyogenic arthritis with skin disease.

Medical specialty: Rheumatology
Subspecialty: Rheumatology / Autoinflammatory disease
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: PSTPIP1

Etiology & mechanism

PSTPIP1 variants.

Gene(s) involved (1)

PSTPIP1

Symptoms & signs (4)

cystic acneerosive joint damagepyoderma gangrenosumsterile arthritis

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