New developments in ochronosis: review of the literature.
Ochronosis commonly affects all connective tissue. Recognition of changes secondary to the deposition of ochronotic pigments has increased with advances in diagnostic technology, allowing both improved imaging and early biochemical and genetics-based diagnosis of alkaptonuria, the cause of ochronosis. Successful symptomatic treatment of ochronotic arthropathy with joint replacement has been documented, and a new pharmacotherapeutic agent, nitisinone, is currently under investigation for both prevention and treatment of ochronosis. This review of the literature highlights recently recognized complications, new diagnostic techniques, and treatment options.
Department of Orthopedic Surgery, Columbia University Medical Center, New York, NY, USA.
Julie M
JM
Keller
William
W
Macaulay
Ohannes A
OA
Nercessian
Israeli A
IA
Jaffe
D000474:Alkaptonuria / Q000150:complications; D019643:Arthroplasty, Replacement; D003512:Cyclohexanones / Q000627:therapeutic use; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D006801:Humans; D007592:Joint Diseases / Q000175:diagnosis / Q000209:etiology / Q000628:therapy*; D009579:Nitrobenzoates / Q000627:therapeutic use; D009794:Ochronosis / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology* / Q000628:therapy
D003512:Cyclohexanones; D004791:Enzyme Inhibitors; D009579:Nitrobenzoates; C077073:nitisinone