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Dermatologic manifestations of ataxia-telangiectasia syndrome.
MedLine Citation:
PMID:  23360865     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Shoshana Greenberger; Yackov Berkun; Bruria Ben-Zeev; Yonit Banet Levi; Aviv Barziliai; Andreea Nissenkorn
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-26
Journal Detail:
Title:  Journal of the American Academy of Dermatology     Volume:  -     ISSN:  1097-6787     ISO Abbreviation:  J. Am. Acad. Dermatol.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7907132     Medline TA:  J Am Acad Dermatol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.
Affiliation:
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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