Background/Purpose: The dominantly inherited pyogenic arthritis pyoderma gangrenosum and acne (PAPA) syndrome is caused by mutations in PSTPIP1.  It is one of the least understood of the known monogenic autoinflammatory diseases, both from a pathogenic and treatment perspective. Associated symptoms include arthritis, cystic acne, and pyoderma gangrenosum without discernable infection. Therapy revolves around the suppression of the systemic inflammation, typically with corticosteroids, interleukin-1 receptor antagonists, and tumor necrosis factor inhibitors. This abstract documents the continued expansion of clinical manifestations of disease as two PAPA patients have recently presented with the features of noninfectious epiglottitis and sterile osteomyelitis.

Methods: A retrospective medical records review of not previously published rare complications of two patients with PAPA syndrome. Complete histories were obtained and physical exams were performed. Radiographic imaging, complete blood count with differential, CRP and ESR were examined.

Results: One patient with PAPA developed a severe sore throat, which upon further clinical and radiographic evaluation showed piriform sinus swelling consistent with supraglottitis. CRP and ESR were elevated, while WBC was normal. Treatment was initiated with IV clindamycin and ceftriaxone; doxycycline was later added. The patient continued to have severe sore throat and repeat radiographic findings showed ongoing swelling. Clindamycin was stopped and methylprednisolone as well as a scheduled dose of golimumab was initiated with significant improvement in symptoms and normalization of radiographic findings. CRP and ESR improved.

Another patient developed severe right wrist pain and swelling. MRI findings revealed distal right radial epiphysis marrow abnormalities consistent with osteomyelitis without synovitis. ESR and CRP were elevated and WBC was normal. The patient was treated with clindamycin without benefit in symptoms or improvement in MRI findings. Clindamycin was discontinued and methylprednisolone and anakinra were initiated which resulted in decreased pain and improvement in marrow inflammation on MRI. CRP and ESR improved.

Conclusion: Our findings indicate new clinical features in PAPA that include aseptic supraglottitis and non-bacterial osteomyelitis. Improvement in clinical symptoms, radiographic findings, and acute phase reactants as well as a normal WBC support an inflammatory rather than infectious process.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/new-clinical-features-of-pyogenic-arthritis-pyoderma-gangrenosum-and-acne-syndrome/