Martinez-rios Claudia,  Jariwala Mehul,  Highmore Kerri,  Watanabe Duffy Karen,  Laxer Ronald,  Stimec Jennifer

Final Pr. ID: Poster #: EDU-050

Sterile pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA syndrome) is a rare autosomal dominant inherited entity due to a missense mutation in the proline serine threonine phosphatase-interacting protein 1 (PSTPIP1/CD2BP1) gene, characterized by typical recurrent episodes of sterile pyogenic arthritis, either spontaneous or following a trauma, and skin manifestations characterized by pyoderma gangrenosum and acne. The articular manifestation is seen in the first decade of life, where most of the initial episodes are treated as septic arthritis. Cutaneous manifestations appear in early adulthood. Although uncommon, the potential therapeutic and clinical implications due to the rapidly destructive nature of PAPA syndrome warrant a prompt diagnosis. We present two unrelated pediatric patients from different institutions with genetically confirmed PAPA syndrome. The purpose of this study was to illustrate the musculoskeletal radiologic spectrum of findings of PAPA syndrome, and to discuss the differential diagnostic entities commonly seen in children. A second objective was to review the clinical and laboratory findings that allow diagnosis of PAPA syndrome Read More

Authors:  Martinez-rios Claudia , Jariwala Mehul , Highmore Kerri , Watanabe Duffy Karen , Laxer Ronald , Stimec Jennifer

Keywords:  PAPA, syndrome, arthritis, musculoskeletal, gene-mutation