A NEW AUTOSOMAL-DOMINANT DISORDER OF PYOGENIC STERILE ARTHRITIS, PYODERMA-GANGRENOSUM, AND ACNE - PAPA SYNDROME

Objective: To describe a multigenerational family with transmission of an autosomal dominant disorder characterized by pyogenic arthritis, p yoderma gangrenosum, and severe cystic acne, Material and Methods: We present a detailed case report of a 39-year-old man with arthritic cha nges in several joints, pyoderma gangrenosum, and cystic acne. Several relatives from three generations of his family underwent clinical and genetic investigations. The findings in this kindred are reported. Re sults: Ten affected family members in three generations manifested var iable expression of a pauciarticular, nonaxial, destructive, corticost eroid-responsive arthritis that began in childhood; pyoderma gangrenos um; and severe cystic acne in adolescence and beyond. Other less commo nly associated features included adult-onset insulin-dependent diabete s mellitus, proteinuria, abscess formation at the site of parenteral i njections, and cytopenias attributable to sulfonamide medications. Lab oratory evaluation was nondiagnostic. Genetic studies excluded linkage to the major histocompatibility locus. Conclusion: The acronym of PAP A syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne ) is suggested for this newly recognized pleiotropic autosomal dominan t disorder. The nature of the genetic alteration in PAPA syndrome is u nknown.