PAPA syndrome; pyogenic sterile arthritis, pyoderma gangrenosum, & acne; familial recurrent arthritis
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Epidemiology
rare
Genetics
- autosomal dominant
- caused by mutations in the PSTPIP1 gene
Clinical manifestations
- onset in childhood
- corticosteroid-responsive pyogenic arthritis
- episodic inflammation leading to eventual destruction of joints, muscle, & skin
- pyoderma gangrenosum, abscesses at injection sites
- severe cystic acne
- insulin-dependent diabetes mellitus common in adulthood
Laboratory
- proteinuria is common