Document Detail

Unrecognized ochronosis--a case report.
MedLine Citation:
PMID:  18949907     Owner:  NLM     Status:  MEDLINE    
Alkaptonuria is a rare metabolic disorder characterized by a deficiency of the homogentisic acid oxidase enzyme. The result is accumulation of homogentisic acid in collagenous structures throughout the body, especially in fibrous and cartilaginous tissue. This leads to gradual development of a phenomenon known as ochronosis. Characteristic features of ochronosis are urine darkening, progressive scleral pigmentation, subcutaneous cartilage pigmentation (for example, ear cartilage and nails) and degenerative ochronotic arthropathy resembling osteoarthritis. In addition, cardiovascular and genitourinary systems are also affected. Alkaptonuric ochronosis is particularly interesting because it can be detected based only on clinical signs and medical history. Herein we present a patient with typical signs and symptoms such as darkening of urine, pigmented sclerae, nails and ear cartilage, manifesting arthritis in his fifth decade. Additional clinical examination indicated alkaptonuria, which was unrecognized in childhood.
Lucija Murgić; Frane Grubisić; Zrinka Jajić
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Acta clinica Croatica     Volume:  47     ISSN:  0353-9466     ISO Abbreviation:  Acta Clin Croat     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-10-27     Completed Date:  2008-11-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9425483     Medline TA:  Acta Clin Croat     Country:  Croatia    
Other Details:
Languages:  eng     Pagination:  105-9     Citation Subset:  IM    
University Department of Rheumatology, Physical Medicine and Rehabilitation, Sestre milosrdnice University Hospital, Zagreb, Croatia.
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MeSH Terms
Alkaptonuria / complications*,  diagnosis
Middle Aged
Ochronosis / diagnosis*

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