| Hereditary ochronosis: hyperpigmented skin overlying cartilaginous structures. | |
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MedLine Citation:
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PMID: 10388955 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hereditary ochronosis, or alkaptonuria, results from deficiency of homogentisic acid oxidase. It is an autosomal recessive condition found in geographically isolated populations. The excess homogentisic acid deposits in collagenous structures, leading to unusual pigmentation of the skin overlying cartilaginous structures, but on occasion pigment is also seen in the sclera, in sweat after oxidation, and classically, in urine when left standing at room temperature. This case report highlights the pathogenesis and expression of this rare disorder. |
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Authors:
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S F Garcia; B Egbert; S M Swetter |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Cutis; cutaneous medicine for the practitioner Volume: 63 ISSN: 0011-4162 ISO Abbreviation: Cutis Publication Date: 1999 Jun |
Date Detail:
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Created Date: 1999-09-13 Completed Date: 1999-09-13 Revised Date: 2009-11-11 |
Medline Journal Info:
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Nlm Unique ID: 0006440 Medline TA: Cutis Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 337-8 Citation Subset: IM |
Affiliation:
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Department of Dermatology, Stanford University Medical Center, California, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Arthritis / diagnosis*, genetics Cartilage / pathology Humans Hyperpigmentation / diagnosis*, genetics, pathology Lumbar Vertebrae / radiography Male Ochronosis / diagnosis*, genetics, radiography, urine Tooth Discoloration / diagnosis*, genetics |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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