Document Detail

Endogenous ochronosis.
MedLine Citation:
PMID:  20055850     Owner:  NLM     Status:  MEDLINE    
Endogenous ochronosis or alkaptonuria is a rare, autosomal recessive disease of tyrosine metabolism that is caused by a deficiency of the enzyme homogentisic acid oxidase. The disease results in the accumulation and deposition of homogentisic acid in the cartilage, eyelids, forehead, cheeks, axillae, genital region, buccal mucosa, larynx, tympanic membranes, and tendons. The disease generally presents in adults with arthritis and skin abnormalities; occasionally, involvement of other organs may be seen. A 49-year-old man was referred to our clinic with verrucous lesions on his hands. On physical examination, caviar-like ochronotic papules were found around his eyes and the helix cartilage of his ears, and on the dorsa of both hands. There were brown macules on the sclera (Osler's sign). The patient had arthritis and nephrolithiasis, and a sample of his urine darkened upon standing. Histopathological examination showed deposition of ochronotic pigment. High-dose ascorbic acid was given, and the patient showed improvement on follow-up examination 6 months later.
E Turgay; D Canat; M S Gurel; T Yuksel; M F Baran; C Demirkesen
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical and experimental dermatology     Volume:  34     ISSN:  1365-2230     ISO Abbreviation:  Clin. Exp. Dermatol.     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2010-01-08     Completed Date:  2010-08-18     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7606847     Medline TA:  Clin Exp Dermatol     Country:  England    
Other Details:
Languages:  eng     Pagination:  e865-8     Citation Subset:  IM    
Department of Dermatology, Okmeydani Education and Research Hospital, Istanbul, Turkey.
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MeSH Terms
Ascorbic Acid / therapeutic use*
Ear, External / pathology*
Middle Aged
Ochronosis / drug therapy,  pathology*
Treatment Outcome
Reg. No./Substance:
50-81-7/Ascorbic Acid

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