Alkaptonuric ochronosis: report of two affected brothers.

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.

• Authors: R Gutzmer, R A Herbst, P Kiehl, A Kapp, J Weiss
• Journal: Journal of the American Academy of Dermatology (J Am Acad Dermatol) Vol. 37 Issue 2 Pt 2 Pg. 305-7 (Aug 1997) ISSN: 0190-9622 [Print] United States
• PMID: 9270533 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)

Topics

• Ear Diseases (diagnosis, genetics)
• Ear, External
• Humans
• Hyperpigmentation (diagnosis, genetics)
• Male
• Middle Aged
• Ochronosis (diagnosis, genetics)
• Scleral Diseases (diagnosis, genetics)