Document Detail

Dermatologic manifestations of ataxia-telangiectasia syndrome.
MedLine Citation:
PMID:  23360865     Owner:  NLM     Status:  Publisher    
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.
Shoshana Greenberger; Yackov Berkun; Bruria Ben-Zeev; Yonit Banet Levi; Aviv Barziliai; Andreea Nissenkorn
Related Documents :
23860735 - Genetic variation near interleukin 28b and the risk of hepatocellular carcinoma in pati...
23224065 - Fatigue and correlation with disease-specific variables, spinal mobility measures, and ...
24994945 - Adiponectin and atherosclerosis in rheumatoid arthritis.
23073335 - Chronic venous disease in spain: doctor-patient correlation.
1200285 - Thoracic outlet compression. application of positional arteriographic and nerve conduct...
20694765 - Sleep apnea is common in patients with coronary artery disease.
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.
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:
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Medical error in dermatology practice: Development of a classification system to drive priority sett...
Next Document:  Cutaneous plasmacytosis: Report of 6 cases with or without systemic involvement.