Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature

Abstract

Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome is a rare autosomal-dominant autoinflammatory disease of incomplete penetrance and variable expression. PAPA syndrome is the result of a mutation in the proline serine threonine phosphatase-interacting protein 1 (PSTPIP1/CD2BP1) gene located on chromosome 15, which results in an abnormal overproduction of the pro-inflammatory cytokine interleukin-1β (IL-1). This syndrome clinically manifests as early onset of recurrent episodes of acute aseptic inflammation of the joints, generally occurring in the first two decades of life, followed by manifestation of characteristic skin lesions in the third decade, after an obvious decline in the joint symptoms. Although uncommon, the potential clinical implications of PAPA syndrome warrant an appropriate diagnosis in a timely fashion.

Rapidly Progressing Aseptic Abscesses in a Patient with Ulcerative Colitis

“…However, HLA-B27 is positive in 25%-78% of patients with concomitant IBD and AS. In addition, other mutations, such as those in the PSTPIP1 gene, which cause pyogenic arthritis, pyoderma gangrenosum, and acne syndrome, may also be present (18,19).…”

Periodic fever syndromes and the autoinflammatory diseases (AIDs)

“…However, little is known on MRI findings in these patients. A recent paper described 2 PAPA patients with oligoarthritis: MRI findings were not specific and similar to those seen in other inflammatory diseases (multiloculated joint effusion, synovial thickening and hyperenhancement, bone marrow edema) [ 93 ]. The clinical spectrum of PSTPIP1 mutations is constantly widening.…”

Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review

“…The disease is very rare as only 53 cases have been reported in the literature up to the best of our knowledge [ 38 ]. Despite its name, the classic clinical triad of pyogenic arthritis, pyoderma gangrenosum, and acne is rarely observed [ 38 , 39 ]. Patients with PAPA syndrome typically present with pyogenic sterile arthritis that recurs in childhood and is often triggered by minor trauma.…”

“…Joint effusion with synovial vegetations has been reported and indicates synovitis associated with the clinical diagnosis of arthritis [ 38 ]. Advanced degenerative arthritis has been reported in one elbow, both hips, and both knees of a patient with PAPA syndrome [ 40 ].…”

“…Advanced degenerative arthritis has been reported in one elbow, both hips, and both knees of a patient with PAPA syndrome [ 40 ]. Significant joint destruction with resultant physical disability and impaired quality of life can develop [ 26 , 38 ]. It is difficult to distinguish PAPA joint involvement from infection based on images only and septic arthritis should be clinically excluded.…”