| Dermatologic manifestations of ataxia-telangiectasia syndrome. | |
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MedLine Citation:
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PMID: 23360865 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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BACKGROUND: Previous reports on the cutaneous manifestations of ataxia-telangiectasia (A-T) have relied on data from small series, in patients not genetically tested for A-T. OBJECTIVE: The aim of our study was to characterize the dermatologic manifestations in patients with A-T followed up at the national A-T clinic in Israel. METHODS: This retrospective cross-sectional study included 32 patients followed up at a multidisciplinary A-T clinic from 2010 to 2012. Complete skin examination was done by a single dermatologist. Information about mutations and neurologic status was extracted from the patients' charts. Relevant demographic, clinical, and laboratory characteristics of all patients were collected and summarized. RESULTS: Of the 32 patients, 97% had ocular telangiectasia, the hallmark of the disease. Telangiectasia on other body parts was less frequent. Pigmentary anomalies included café-au-lait macules (84%), hypopigmented macules (44%), and melanocytic nevi (37%). A facial papulosquamous rash was found in 41% of cases. Other manifestations included hypertrichosis and birdlike facies. We did not observe premature hair graying or poliosis. No genotype-phenotype correlation was found in terms of skin manifestations. LIMITATIONS: There was a modest sample size, because of the rarity of the disease. CONCLUSION: Recognition of the ocular and dermatologic manifestations of A-T can facilitate early diagnosis in a child with neurologic deterioration. |
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Authors:
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Shoshana Greenberger; Yackov Berkun; Bruria Ben-Zeev; Yonit Banet Levi; Aviv Barziliai; Andreea Nissenkorn |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2013-1-26 |
Journal Detail:
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Title: Journal of the American Academy of Dermatology Volume: - ISSN: 1097-6787 ISO Abbreviation: J. Am. Acad. Dermatol. Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-1-30 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7907132 Medline TA: J Am Acad Dermatol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved. |
Affiliation:
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Department of Dermatology, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel; Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel. Electronic address: Shoshana.Greenberger@sheba.health.gov.il. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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