Ocular manifestations of alkaptonuric ochronosis.
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Presented here are the clinical, histological, histochemical, and ultrastructural findings of an eye with notable ochronotic changes. Ochronotic pigment is seen by light microscopy as amber globules or fiber-like structures in the cornea, conjunctiva, and sclera combined with degenerated collagen. In the area of a previous injury the intense involvement of the cornea, which is usually not notably involved, indicates the role of preexisting degeneration for the development of clinically visible pigmentation. Although the ultrastructure of the ochronotic pigment is similar to melanin, the chemical behavior is different and, it seems, similar to elastin. Ultrastructurally, most of the pigment granules are extracellular, partly altering the collagen fibers and fibrocytes. The electron-microscopically observed four patterns of deposition are interpreted as stages in the development of ochronotic deposits, according to biochemical findings in the literature.
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Anatomical and radiological studies of four cases of ochronotic arthropathy of the hip were based on the examination of a total of six surgically removed femoral heads. One of these had undergone a surgical biopsy 10 years previously. The impregnation of the articular cartilage by the ochronotic pigment causes it to break into small fragments in the weight-bearing zone. This results in a similar osteoarthrotic remodeling to that commonly attributed to the histologically different "degenerative chondropathy". The labelling of the cartilage in ochronotic arthropathies offers an opportunity for better understanding of the main nonspecific components of osteoarthrotic remodeling. An anatomico-pathological approach explains why their radiological images in the hip may simulate those of rheumatoid arthritis.
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Alkaptonuria is a rare inborn metabolic disorder in which ochronotic pigment is deposited in connective tissue and cartilage. Ochronotic arthropathy is the consequence of longstanding alkaptonuria and leads to progressive joint disability. We report a case of a 67-year old man with severe ochronotic arthropathy involving the spine, the knees, the shoulders and the hips.
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Ochronotic arthropathy (spondylosis or peripheral arthropathy) is a late complication of alkaptonuria. There is a tendency for HLA-B27 positive patients with alkaptonuria to develop ochronotic spondylosis. A 58-year-old white woman, presented with ochronotic spondylosis. She was HLA-B27 positive. Her family history was positive for alkaptonuria. Ochronotic patients with HLA-B27 positivity develop spinal changes similar to ankylosing spondylitis (AS).
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We present an ochronotic patient with spondylosis and upper extremity involvement. We also evaluated radiologic findings of joints that were involved and MRI features of the lumbar spine.
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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