PubMed · 6863950
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M R Kotwal, C Z Rinchhen. 1983-01-01. Alkaptonuria.. https://pubmed.ncbi.nlm.nih.gov/6863950/
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Ochronosis is a musculoskeletal manifestation of alkaptonuria, an inherited metabolic disorder associated with various systemic abnormalities related to the deposition of homogentisic acid pigment in connective tissues. This report describes a 58-year-old woman with ochronotic arthropathy who, in addition to the typical clinical features of the disorder, presented with rapidly progressive hip osteoarthritis. The destruction of the joint architecture and the severe functional impairment necessitated a total hip replacement which resulted in a satisfactory outcome.
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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