A hereditary autosomal dominant disorder characterized by pyogenic (infectious) arthritis, pyoderma gangrenosum, and severe cystic acne. Onset is in childhood; pyoderma gangrenosum; and severe cystic acne occur in adolescence and beyond. Other less common features may include adult-onset DIABETES MELLITUS, TYPE I; PROTEINURIA, ABSCESS formation at the site of parenteral injections, and cytopenias attributable to SULFONAMIDE medications. Mutations in the PSTPIP1 gene have been identified. OMIM: 604416
Date introduced: August 25, 2010