PubMed · 15197577
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U Hackethal, H Busse, H M Seitz, H Gerding. 2004. [Vermiform conjunctival structures].. https://doi.org/10.1007/s00347-003-0865-4
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Alcaptonuria is an inherited hereditary metabolic disorder, which is associated with various systemic abnormalities and related to the accumulation of homogentisic acid and a derived melanine-like pigment in the connective tissues; the latter is termed ochronosis. We present the arthroscopic findings in the shoulder of a 58-year-old female with ochronotic arthropathy and discuss the role of arthroscopy in the diagnosis and management of this rare metabolic disorder.
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The deficiency of homogentisic acid oxidase, an enzyme that is mainly found in hepatocytes, is associated with alkaptonuria and ochronosis. We report a patient with clinical and radiologic findings of ochronotic arthropathy in whom alkaptonuria disappeared and the progressive course of the disease stopped after liver transplantation for hepatitis B-related cirrhosis.