Musculoskeletal manifestations of primary hyperparathyroidism.

Primary hyperparathyroidism (PHPT) can be associated with a variety of musculoskeletal complaints, which occasionally can be the leading or presenting manifestation. In this paper, we describe the musculoskeletal manifestations observed in patients with primary hyperparathyroidism. Medical record reviews of a select population of 74 patients with primary hyperparathyroidism are seen in a rheumatology practice.

Oncogenic hypophosphatemic osteomalacia associated with a nasal hemangiopericytoma.

We report a patient with a nasal hemangiopericytoma associated with an oncogenic hypophosphatemic osteomalacia (OHO). This syndrome results from tumor products that decrease renal tubular phosphate resorption, leading to the osteomalacia. This patient presented with classic bone manifestations of osteomalacia and a nasal tumor.

Rheumatoid nodulosis: is it a different subset of rheumatoid arthritis?

Rheumatoid nodulosis is an entity that describes a particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules. This study describes the clinical, radiologic, histologic, crystallographic, and laboratory findings, as well as the outcome in a group of 16 patients with rheumatoid nodulosis that were followed for a period of 1-12 years. Six of these patients had an aggressive course and developed classic erosive polyarticular rheumatoid arthritis, while the others continued having episodic arthritis without erosive disease.

Pathologic fracture of the femoral neck in a female soccer player.

We report a case of a healthy, young, female soccer player who developed progressive pain in her right hip. A bone cystic lesion was found in the right femoral neck and proximal femur. The lesion was considered a benign bone cyst and the patient was treated with injections of autologous bone marrow and grafting into the femoral neck.

A study of musculoskeletal manifestations in 12 patients with SAPHO syndrome.

Synovium and synovial fluid findings in SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome have not been well characterized, and only a few patients have been described in the Americas. We describe clinical, pathologic, and synovial fluid findings in 12 patients with the SAPHO syndrome: hidradenitis suppurativa (7), acne fulminans or conglobata (3), acneiform folliculitis (1) and palmoplantar pustulosis (1). Routine synovial fluid studies were performed in 6 patients, and light and transmission electron microscopic studies were performed in synovium in 2 patients and in bone in 1.

Clinical and magnetic resonance imaging manifestations of neurosarcoidosis.

Objectives: To describe clinical and neuroimaging manifestations of neurosarcoidosis in a cohort of 21 patients.

Patients And Methods: We reviewed records of 21 patients with sarcoidosis and central nervous system (CNS) manifestations referred to Cooper University Hospital, with emphasis on neuroimaging findings and associated clinical and laboratory evidence of sarcoidosis. Nineteen patients were categorized as having "definite," "probable," or "possible" neurosarcoidosis, while 1 had associated CNS vasculitis and another had Hodgkins lymphoma with cauda equina syndrome.

Musculoskeletal manifestations of osteomalacia and rickets.

Osteomalacia (OM) is still an important metabolic bone disease with increased prevalence in certain regions of the world as well as in the urban population of elderly confined. The disease presents with a wide variety of clinical, biochemical and radiographic manifestations mimicking other musculoskeletal disorders, including 'osteoporosis'. In this chapter, we provide the basis for its clinical diagnosis and management.

Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease.

Objective: To analyze ANKH in families with calcium pyrophosphate dihydrate crystal deposition disease (CPPD) for disease-causing mutations.

Methods: Two US families (one of British ancestry and the other of German/Swiss ancestry) with autosomal-dominant CPPD, whose disease phenotypes were found to be linked to chromosome 5p15.1 (locus symbol CCAL2), were screened by direct sequencing for mutations in ANKH, a gene in the CCAL2 candidate interval that has been shown to harbor mutations in other families with CPPD.

Oxalate crystal deposition disease.

In addition to monosodium urate, calcium pyrophosphate dihydrate, and apatite crystals, oxalate crystals are less often found in synovial fluids in association with acute or chronic arthritis. Oxalate crystal deposition disease is seen in patients with primary hyperoxaluria types 1 and 2 (PH1 and 2) and in patients with end-stage renal disease managed with long-term dialysis. Oxalate crystal deposits are found mainly in kidneys, bone, skin, and vessels, and less often inside the joints.