Alkaptonuric ochronosis: Report of two affected brothers - 11/09/11
Abstract |
Alkaptonuric ochronosis is a rare inborn metabolic disorder. Because of the deficient activity of the enzyme homogentisic acid oxidase, homogentisic acid accumulates in plasma, is deposited in various tissues and is excreted in large amounts in urine. Dark brown discoloration of urine on exposure to air or after addition of alkaline solution is characteristic. We describe two brothers with typical alkaptonuric ochronosis with dark urine, blue pigmentation of auricles and axillae, focal brown hyperpigmentation of sclerae, and anthropathy. (J Am Acad Dermatol 1997;37:305-7.)
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 | This article is made possible through an educational grant from the Dermatological Division, Ortho Pharmaceutical Corporation. |
| Reprint requests: J. Weiss, MD, Associate Professor, Department of Dermatology, Hannover Medical School, Ricklinger Str. 5, D-30449 Hannover, Germany. |
 | 0190-9622/97/$5.00 +0 16/4/80008 |
Vol 37 - N° 2S
P. 305-307 - août 1997 Retour au numéro
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