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The unique role of criteria sets for classification and diagnosis in rheumatology reflects the clinical and scientific challenges characteristic of rheumatic diseases. Rheumatic diseases often cannot be defined by a single clinical, laboratory, radiologic, or pathologic feature because of their…
Key Points ■ Bone tumors present with pain, swelling, pathologic fracture, or loss of use or as an incidental finding. ■ Urgent investigations of plain radiography, magnetic resonance imaging, or computed tomography are required with formal diagnostic core biopsy. ■…
Key Points ■ Joint hypermobility as a clinical entity is difficult to define given current parameters; the Beighton score is not fit for this purpose, and a new measurement tool is required to identify patients with significant global joint laxity.…
Key Points ■ Heritable disorders of the skeleton and connective tissues are individually rare but collectively constitute an important source of morbidity and mortality. ■ Improved diagnostic classification criteria allow more accurate prognostication for disorders such as Marfan syndrome, Ehlers-Danlos…
Key Points ■ Localized arthritis can be caused by metastatic disease, cartilaginous tumors, foreign body synovitis, synovial osteochondromatosis, pigmented villonodular synovitis, and palindromic rheumatism. ■ Polyarthritis can be caused by carcinomatous polyarthritis, bypass arthritis, hypertrophic osteoarthropathy, intermittent hydrarthrosis, multicentric reticulohistiocytosis,…
Key Points ■ Hypertrophic osteoarthropathy is a syndrome characterized by abnormal proliferation of the skin and osseous tissues at the distal parts of the extremities. ■ Three features are typically present: a peculiar bulbous deformity of the tips of the…
Key Points ■ Gaucher disease (GD) results from the accumulation of glucosylceramide in organs and tissues throughout the body in characteristic storage cells, namely “Gaucher cells,” which are transformed macrophages. ■ The disease is caused by mutations in the β-glucocerebrosidase…
Key Points ■ An arthropathy, chondrocalcinosis, and osteoporosis are complications of hereditary hemochromatosis (HH). ■ The hemochromatosis arthropathy usually mimics osteoarthritis. It is a common finding as it affects up to 25% of patients. MCPs 2,3 and ankle involvement is…