| Beneficial effect of acitretin in Chanarin-Dorfman syndrome. | |
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MedLine Citation:
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PMID: 21981352 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Chanarin-Dorfman syndrome (CDS) is an autosomal recessive metabolic disorder characterized by congenital ichthyosis and visceral complications due to accumulation of neutral lipids. CDS is caused by mutations in the ABHD5 (previously termed CGI-58) gene. In the present study, we assessed a young child presenting with ichthyosis and hepatomegaly, suggesting a diagnosis of CDS. We identified an intronic mutation, c.960 + 5G>A, which was found to result in skipping of exon 6. Abnormal results on liver function tests led us to treat the child with acitretin, which resulted in satisfactory clinical and laboratory responses. The present case illustrates the beneficial effect of acitretin treatment in CDS even in the presence of compromised liver function. |
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Authors:
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S Israeli; Y Pessach; O Sarig; I Goldberg; E Sprecher |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-10-10 |
Journal Detail:
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Title: Clinical and experimental dermatology Volume: - ISSN: 1365-2230 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-10-10 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7606847 Medline TA: Clin Exp Dermatol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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© The Author(s). CED © 2011 British Association of Dermatologists. |
Affiliation:
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Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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