| Endogenous ochronosis: case report and a systematic review of the literature. | |
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MedLine Citation:
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PMID: 21342157 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Endogenous ochronosis (EO) is a rare autosomal recessive disorder due to accumulation of oxidized and polymerized forms of homogentisic acid (HGA) in connective tissues, giving them a deep dark blue pigmentation. AIM: Through a new Tunisian case of EO and a review of the literature, we aimed to define the epidemioclinical features of EO, its diagnostic criteria, and evolution. METHODS: Three hundred and forty patients were enrolled through 54 articles and four abstracts. CASE REPORT: A 35-year-old woman, born in consanguineous parents, presented with blue-grey patches of fingernails, first interdigital spaces, and ears with brown conjunctival pigmentation. Urine specimen turned dark on standing overnight. The diagnosis of EO was confirmed by urinary high levels of HGA. Investigations revealed radiologic signs of ochronotic arthropathy. REVIEW OF THE LITERATURE: EO is ubiquitary. Its prevalence was estimated at almost 6.5 cases/year. The mean age at diagnosis was 55.9 years (M/F: 1.85). Onset symptoms mainly consisted in cutaneous signs. Ochronotic arthropathy was the most frequently reported manifestation. Treatment was mainly symptomatic. DISCUSSION: EO is often revealed in adulthood mainly after the fourth decade. Urinary darkening is the first sign of the disease but is rarely reported as an onset sign. Skin signs are the alerting features. Ochronotic arthropathy is insidious but may be debilitating. No specific medical treatment of EO is available. CONCLUSION: Cutaneous manifestations are the hallmarks of OE. As vital organ involvement has been reported, close monitoring and continuous surveillance is warranted. |
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Authors:
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Aida Khaled; Nadia Kerkeni; Abdelmoti Hawilo; Becima Fazaa; Mohamed Ridha Kamoun |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: International journal of dermatology Volume: 50 ISSN: 1365-4632 ISO Abbreviation: Int. J. Dermatol. Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-02-23 Completed Date: 2011-06-22 Revised Date: 2011-08-25 |
Medline Journal Info:
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Nlm Unique ID: 0243704 Medline TA: Int J Dermatol Country: United States |
Other Details:
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Languages: eng Pagination: 262-7 Citation Subset: IM |
Copyright Information:
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© 2011 The International Society of Dermatology. |
Affiliation:
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Department of Dermatology, Charles Nicolle Hospital, Tunis, Tunisia. aida.khaled@rns.tn |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Connective Tissue / pathology* Female Humans Ochronosis / epidemiology, pathology Prevalence Skin / pathology* World Health |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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