Pediatric Radiology

, Volume 49, Issue 1, pp 23–36 | Cite as

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

  • Claudia Martinez-RiosEmail author
  • Mehul P. Jariwala
  • Kerri Highmore
  • Karen Watanabe Duffy
  • Lynn Spiegel
  • Ronald M. Laxer
  • Jennifer Stimec


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.


Acne Arthritis Children Genetic mutation Magnetic resonance imaging Musculoskeletal Pyogenic arthritis, pyogrenosum and acne syndrome Pyoderma gangrenosum 


Compliance with ethical standards

Conflicts of interest

Dr. R. M. Laxer has acted as a consultant for Sobi (manufacturer of anakinra) and Novartis (manufacturer of canakinumab). These relationships are not related to the development of this manuscript.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Claudia Martinez-Rios
    • 1
    • 2
    • 3
    Email author return OK on get
  • Mehul P. Jariwala
    • 4
  • Kerri Highmore
    • 1
  • Karen Watanabe Duffy
    • 5
  • Lynn Spiegel
    • 6
    • 7
    • 8
  • Ronald M. Laxer
    • 6
    • 7
    • 8
  • Jennifer Stimec
    • 2
    • 3
  1. 1.Pediatric Radiology Division, Department of Medical Imaging, University of OttawaChildren’s Hospital of Eastern OntarioOttawaCanada
  2. 2.Department of Diagnostic ImagingThe Hospital for Sick ChildrenTorontoCanada
  3. 3.Department of Medical ImagingUniversity of TorontoTorontoCanada
  4. 4.Division of Pediatric Rheumatology, Department of PediatricsRoyal University Hospital, University of SaskatchewanSaskatoonCanada
  5. 5.Division of Rheumatology, Department of Pediatrics, University of OttawaChildren’s Hospital of Eastern OntarioOttawaCanada
  6. 6.Department of PediatricsUniversity of TorontoTorontoCanada
  7. 7.Division of RheumatologyThe Hospital for Sick ChildrenTorontoCanada
  8. 8.Department of Medicine, University of TorontoThe Hospital for Sick ChildrenTorontoCanada

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