Cases reported "Arthralgia"

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1/4. Arthroscopic diagnosis and management of ochronotic arthropathy of the knee.

    Ochronotic arthropathy is a progressive joint disorder resulting from the deposition of a derivative of homogentisic acid into connective tissues, especially meniscal and articular cartilage. patients may present with symptoms, physical examination results, and radiographic changes consistent with degenerative joint disease. We present a case in which an operative arthroscopy of the knee was highly suggestive of ochronotic arthropathy. The definitive diagnosis of ochronosis was subsequently confirmed by laboratory and pathologic evaluation.
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keywords = ochronosis
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2/4. Alkaptonuric ochronosis: a case with multiple joint replacement arthroplasties.

    alkaptonuria is an extremely rare hereditary disorder of metabolism which may affect various systems. Degeneration of the articular surfaces in major joints leads to complications, which may further necessitate joint replacements. In this report, a case of advanced alkaptonuria with multiple joint replacements is presented and musculoskeletal system involvement in this disorder is reviewed.
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ranking = 4
keywords = ochronosis
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3/4. minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.

    alkaptonuria, a rare autosomal-recessive disorder caused by mutations in the HGD gene and a deficiency of homogentisate 1,2-dioxygenase, is characterized by accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue resulting in joint disease. Certain medications have been reported to cause cutaneous hyperpigmentation resembling that of alkaptonuria. We present 5 such cases. Eighty-eight patients with a possible diagnosis of alkaptonuria were examined at the National Institutes of health Clinical Center between June 2000 and March 2004. The diagnosis of alkaptonuria was confirmed or ruled out by measurement of HGA in the urine. Five patients with findings consistent with ochronosis, including pigmentary changes of the ear and mild degenerative disease of the spine and large joints, were diagnosed clinically as having alkaptonuria, but the diagnosis was withdrawn based on normal urine HGA levels. All 5 patients were women who had taken minocycline for dermatologic or rheumatologic disorders for extended periods. minocycline-induced hyperpigmentation should be considered in the differential diagnosis of ochronosis. This could be of increased significance now that minocycline and other tetracyclines have been proposed as therapeutic options for rheumatoid arthritis, bringing a new population of patients with ochronosis and arthritis to medical attention with the potential, but incorrect, diagnosis of alkaptonuria.
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ranking = 4
keywords = ochronosis
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4/4. Hip arthroplasty for ochronosis.

    alkaptonuria is a metabolic disorder in which homogentisic acid oxidase is absent. Therefore, homogentisic acid accumulates in cartilage and connective tissues. We can diagnose ochronotic arthropathy, a manifestation of long standing alkaptonuria, through careful radiological, physical, and laboratory examination. In this report, we describe 4 cases of ochronotic arthropathy to which we applied cementless total hip prosthesis due to severe hip involvement.
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ranking = 4
keywords = ochronosis
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