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…
Key Points ■ Sickle cell disease (SCD) and thalassemia are the main hemoglobinopathies associated with rheumatic manifestations. Both are genetic inherited diseases. ■ Sickle cell disease results from structurally abnormal hemoglobin, whilst thalassemia is due to decreased synthesis of structurally…
Key Points Hemophilia ■ Hemophilia is an X-linked inherited bleeding disorder caused by a deficiency of factor VIII (hemophilia A) or IX (hemophilia B). ■ Bleeding occurs either spontaneously or with minor trauma. Recurrent hemarthroses can lead to progressive arthritis,…
Key Points ■ Musculoskeletal abnormalities occur commonly in association with endocrine disease. ■ Glandular dysfunction involving the pituitary, pancreas, thyroid, parathyroid, or adrenals may be manifested as rheumatologic disorders. ■ Classic, nonspecific, or unusual rheumatic abnormalities may occur. ■ Muscle…
Key Points ■ Osteonecrosis results from cell death in components of bone: hematopoietic fat marrow and mineralized tissue. ■ Osteonecrosis in its prototypical form results from impairment of the blood supply to the femoral head; consequently, the terms avascular necrosis…