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Year : 2011  |  Volume : 17  |  Issue : 1  |  Page : 22-25

Alkaptonuria: Otolaryngologic clues to diagnosis

Department of ENT, M.S. Ramaiah Medical College, MSRIT Post, Bangalore, India

Correspondence Address:
Rajiv Ranganath Sanji
85, 6th Cross, AG's Layout, New BEL Road, Bangalore - 560054
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-7749.85795

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Alkaptonuria is a rare inborn error of metabolism due to the deficiency of the enzyme homogentisic acid oxidase. It presents clinically by blackish discoloration of the cartilages and collagen-containing structures of the body. There may be blackish or brown discoloration of the auricles, tympanic membrane and other areas of the head and neck. Although the initial clinical manifestation is of multiple-joint pathology, it may be diagnosed only due to characteristic black discoloration of the urine. Here we present a case of ochronosis due to alkaptonuria which had a long undiagnosed course. A 56-year-old male patient was referred to us for evaluation of nodules of the pinna. He was found to have characteristic clinical features of ochronosis. The final diagnosis was difficult and the clinical findings in the head and neck aided in supporting it. This case highlights the role of the ENT specialist in the diagnosis of this disease, the pitfalls and difficulties in diagnosis and the diagnostic dilemmas.

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