| Endogenous ochronosis. | |
| | |
MedLine Citation:
|
PMID: 20055850 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
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 |
Affiliation:
|
Department of Dermatology, Okmeydani Education and Research Hospital, Istanbul, Turkey. evrenturgay@gmail.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Ascorbic Acid
/
therapeutic use* Ear, External / pathology* Female Humans Middle Aged Ochronosis / drug therapy, pathology* Treatment Outcome |
| Chemical | |
Reg. No./Substance:
|
50-81-7/Ascorbic Acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: A collection of rare anomalies: multiple digital glomuvenous malformations, epidermal naevus, tempor...
Next Document: Focal myositis of the tongue presenting as macroglossia.