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Paper 3
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
In primary synovial chondromatosis there is proliferation of the synovium which can cause intra-articular loose bodies; these may or may not calcify. Imaging features in this condition can include soft tissue swelling around the joint and widening of the joint space as well as erosion of the adjacent bone. Multiple calcific densities may be present in the joint space, which are uniform in size.
The locomotor system
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
Multiple soft loose bodies (rice or melon-seed bodies) formed from fibrin or necrotic synovium are found in tuberculous or rheumatoid arthritis. Hard loose bodies may cause repeated episodes of locking of the joint, and damage to the articular cartilage, resulting in osteoarthritis. In synovial chondromatosis multiple nodules of cartilage form by metaplasia in the synovial membrane and may become ossified. Some nodules become detached and lie free in the synovial fluid. In osteochondritis dissecans, the loose body consists of articular cartilage and underlying necrotic bone. Fracture of marginal osteophytes in osteoarthritis may occur, particularly in neuropathic joints. Rarely intra-articular fractures may result in loose bodies.
Arthroscopic hip preservation surgery
Published in K. Mohan Iyer, Hip Preservation Techniques, 2019
Synovial chondromatosis and loose bodies can be managed arthroscopically; studies have observed that some patients recovered well without the need for further treatments. Due to difficulties in accessing posteromedial and posterolateral areas in the peripheral compartment, recurrences can be higher.
The role of imaging in juvenile idiopathic arthritis
Published in Expert Review of Clinical Immunology, 2018
Clara Malattia, Mariangela Rinaldi, Alberto Martini
Over the last decade, evidence has revealed that delays in diagnosis and treatment of chronic inflammatory arthritides might reduce the chance of remission and cause unnecessary disease progression [3]. Increasing emphasis has thus been placed on the identification of patients at the earliest stages of the disease. The 2010 American College of Rheumatology (ACR)/EULAR classification criteria have included imaging modalities such as MRI and MSUS to enable early diagnosis of RA patients [27]. Of note, the combination of synovitis and BME, as revealed by wrist MRI, significantly increases the diagnosis of RA from undifferentiated arthritis [28]. So far, no study has specifically addressed the role of MRI in diagnosis of JIA. In addition, wrist MRIs of a large Norwegian cohort of healthy children have shown that BME is present in up to 50% of healthy controls, thus limiting the specificity of this finding to diagnose JIA [6]. Despite that, the role of MRI remains unquestionable to rule out other synovial pathologies that could mimic JIA, such as pigmented villonodular synovitis, hemangioma, synovial chondromatosis, or lipoma arborescens [4,16].
Synovial chondromatosis of the distal radio-ulnar joint
Published in Baylor University Medical Center Proceedings, 2021
David Botros, Ken Ford, Brendan Holderread, Al Mollabashy, James Rizkalla
Synovial chondromatosis (SC) is a benign metaplastic proliferation of cartilaginous nodules within the synovial membrane, often presenting with classically described “loose bodies” occupying the joint space.1,2 SC occurs in approximately 1.8 per 1 million individuals.3 Though in theory any articular space is at risk of SC, the literature suggests a predilection to the knee and hip, with nearly 90% of all cases of SC occurring at these sites.4 This article describes an incredibly rare case of SC of the distal radio-ulnar joint (DRUJ) that was more aggressive than described in previous case reports. The aggressiveness and local recurrence of this lesion ultimately required amputation as the definitive treatment.
IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Published in Pediatric Hematology and Oncology, 2020
Anand Srinivasan, Yaolin Zhou, Teresa Scordino, Sandeep Prabhu, Andrea Wierenga, Garfield Simon, Klaas J. Wierenga, Joel Thompson, Rikin Shah, Arpan A. Sinha
Metaphyseal chondromatosis with D-2-HGA (MC-HGA) is an even rarer disease with the skeletal manifestation of metaphyseal chondromatosis in association with the metabolic disorder D-2-HGA (OMIM 614875). Ten patients with MC-HGA have been reported.7–12 Using whole exome sequencing of blood DNA, Vissers et al., identified two out of four patients with MC-HGA to have IDH1 R132H and IDH1 R132S mutations showing 23% and 10% mutant reads, respectively. These allelic frequencies suggest somatic mosaicism.9 An additional patient with MC-HGA and an IDH1 mutation was identified by amplicon deep sequencing.13