1. To review the contemporary literature and present an updated list of musculoskeletal and non-musculoskeletal imaging findings of patients with autoinflammatory diseases in our hospital. Most of these patients are found to have a genetic mutation that is responsible for their disease. 2. To present follow-up imaging findings, when available, and correlate those with patients’ symptoms and type of treatment administered in approximately 40 patients with autoinflammatory diseases such as Cryopyrin-associated autoinflammatory syndrome, familial Mediterranean fever, PAPA (pyogenic arthritis, pyoderma gangrenousum, and acne) syndrome and much more. These findings can be related to disease progression, treatment response or treatment-induced changes. Read More

Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018

Authors: Alsharief Alaa, Laxer Ronald, Stimec Jennifer, Babyn Paul, Man Carina, Doria Andrea

Keywords: Autoinflammation, fever, Rheumatology

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

Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016

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

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

Acoustic radiation force imaging (ARFI) is a type of quantitative sonoelastography (SE) that has been used to determine tissue stiffness in many disorders including liver fibrosis, breast cancer, thyroid nodules and more recently, cutaneous scleroderma. However the use of this technology for the assessment of skin lesions in the paediatric population has not yet been investigated. The purpose of this study is to test the feasibility of using ARFI SE to quantify the stiffness of morphea or localized scleroderma (LS) and hypertrophic burn scars (HTS), two skin conditions in which there is excessive deposition of collagenous and non-collagenous extracellular matrix causing fibrosis. Read More

Meeting name: SPR 2019 Annual Meeting & Postgraduate Course , 2019

Authors: Perez Matta Maria Manuela, Zuccaro Jennifer, Mohanta Arun, Fish Joel, Pope Elena, Laxer Ronald, Doria Andrea

Keywords: Sonoelastography, Scars, Scleroderma