| Alkaptonuria. | |
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MedLine Citation:
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PMID: 21163157 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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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. |
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Authors:
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Molly Yancovitz; Robert Anolik; Miriam Keltz Pomeranz |
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Publication Detail:
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Type: Journal Article Date: 2010-11-15 |
Journal Detail:
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Title: Dermatology online journal Volume: 16 ISSN: 1087-2108 ISO Abbreviation: Dermatol. Online J. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-12-17 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9610776 Medline TA: Dermatol Online J Country: United States |
Other Details:
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Languages: eng Pagination: 6 Citation Subset: IM |
Affiliation:
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Department of Dermatology, New York University, New York, NY, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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