title: Alkaptonuria.
abstract: A 69-year-old woman presented with a 30-year history of lower back and large joint pain of the hips and shoulders. On examination blue-grey, pigmented macules were present over the cartilaginous portions of the ears and on the sclera. Past medical history included aortic stenosis. Urine homogentisic acid level was elevated, which is diagnostic for alkaptonuria. Alkaptonuria is an autosomal recessive disorder that results in deficiency of homogentisic acid oxidase and in the accumulation of homogentisic acid in connective tissue. Disease can result in blue-grey pigmentation of the cartilage, sclerae, face, and hands as well as severe arthropathy and cardiac valve disease. Treatment is limited at this time. Promising early reports of the use of nitisinone have prompted ongoing trials of this therapeutic agent.
authors.affiliation: Department of Dermatology, New York University, New York, NY, USA.
authors.forename: Molly
authors.initials: M
authors.lastname: Yancovitz
authors.forename: Robert
authors.initials: R
authors.lastname: Anolik
authors.forename: Miriam Keltz
authors.initials: MK
authors.lastname: Pomeranz
mesh_terms: D000368:Aged; D000474:Alkaptonuria / Q000175:diagnosis* / Q000188:drug therapy; D001168:Arthritis / Q000188:drug therapy / Q000378:metabolism; D003512:Cyclohexanones / Q000627:therapeutic use; D005260:Female; D006713:Homogentisic Acid / Q000652:urine; D006801:Humans; D007592:Joint Diseases / Q000175:diagnosis / Q000378:metabolism; D009579:Nitrobenzoates / Q000627:therapeutic use; D009794:Ochronosis / Q000175:diagnosis / Q000378:metabolism; D010859:Pigmentation Disorders / Q000378:metabolism*
chemical_list: D003512:Cyclohexanones; D009579:Nitrobenzoates; C077073:nitisinone; D006713:Homogentisic Acid