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

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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.

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Authors and Affiliations

  1. Pediatric Radiology Division, Department of Medical Imaging, University of Ottawa, Children’s Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada

    Claudia Martinez-Rios & Kerri Highmore

  2. Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON, Canada

    Claudia Martinez-Rios & Jennifer Stimec

  3. Department of Medical Imaging, University of Toronto, Toronto, ON, Canada

    Claudia Martinez-Rios & Jennifer Stimec

  4. Division of Pediatric Rheumatology, Department of Pediatrics, Royal University Hospital, University of Saskatchewan, Saskatoon, SK, Canada

    Mehul P. Jariwala

  5. Division of Rheumatology, Department of Pediatrics, University of Ottawa, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada

    Karen Watanabe Duffy

  6. Department of Pediatrics, University of Toronto, Toronto, ON, Canada

    Lynn Spiegel & Ronald M. Laxer

  7. Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada

    Lynn Spiegel & Ronald M. Laxer

  8. Department of Medicine, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada

    Lynn Spiegel & Ronald M. Laxer

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  1. Claudia Martinez-Rios
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  2. Mehul P. Jariwala
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Correspondence to Claudia Martinez-Rios.

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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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Martinez-Rios, C., Jariwala, M.P., Highmore, K. et al. Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature. Pediatr Radiol 49, 23–36 (2019). https://doi.org/10.1007/s00247-018-4246-1

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