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

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...

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Publicado en:Pediatric Radiology Vol. 49; no. 1; pp. 23 - 37
Autores principales: Martinez-Rios, Claudia, Jariwala, Mehul P., Highmore, Kerri, Duffy, Karen Watanabe, Spiegel, Lynn, Laxer, Ronald M., Stimec, Jennifer
Formato: diagnostic images review tables/charts Journal Article
Publicado: Springer Nature Jan2019
Acceso en línea:Ver este registro en EBSCOhost
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        atl: Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature.
      aug:
        au:
          Martinez-Rios, Claudia
          Jariwala, Mehul P.
          Highmore, Kerri
          Duffy, Karen Watanabe
          Spiegel, Lynn
          Laxer, Ronald M.
          Stimec, Jennifer
        affil: Pediatric Radiology Division, Department of Medical Imaging, University of Ottawa, Children's Hospital of Eastern Ontario, 401 Smyth Road, K1H 8L1, Ottawa, ON, Canada
      sug:
        subj:
          Pyoderma Gangrenosum
          Arthritis, Infectious
          Acne Vulgaris
      ab: 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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        tables/charts
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    language: English
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