Document Detail

Hereditary ochronosis: hyperpigmented skin overlying cartilaginous structures.
MedLine Citation:
PMID:  10388955     Owner:  NLM     Status:  MEDLINE    
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.
S F Garcia; B Egbert; S M Swetter
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Cutis     Volume:  63     ISSN:  0011-4162     ISO Abbreviation:  Cutis     Publication Date:  1999 Jun 
Date Detail:
Created Date:  1999-09-13     Completed Date:  1999-09-13     Revised Date:  2013-09-12    
Medline Journal Info:
Nlm Unique ID:  0006440     Medline TA:  Cutis     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  337-8     Citation Subset:  IM    
Department of Dermatology, Stanford University Medical Center, California, USA.
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MeSH Terms
Arthritis / diagnosis*,  genetics
Cartilage / pathology
Hyperpigmentation / diagnosis*,  genetics,  pathology
Lumbar Vertebrae / radiography
Ochronosis / diagnosis*,  genetics,  radiography,  urine
Tooth Discoloration / diagnosis*,  genetics

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