| Wiskott-Aldrich syndrome presenting with early onset recurrent acute hemorrhagic edema and hyperostosis. | |
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MedLine Citation:
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PMID: 21488159 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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We report two unusual presenting manifestations of Wiskott-Aldrich syndrome (WAS), recurrent acute hemorrhagic edema of infancy (AHEI); a form of cutaneous vasculitis and hyperostosis of the tibia. Though cutaneous vasculitis is known to occur in WAS, presentation in early infancy and as AHEI is extremely uncommon. Hyperostosis is not a well-recognized association in WAS; only three patients with this association have been previously reported. In our patient these two unusual manifestations preceded the onset of recurrent infections. Recognition of this rare presentation led us to an early diagnosis of WAS, associated with p.Glu31Lys mutation in the WAS protein. Pediatr Blood Cancer 2011;56:1130-1132. © 2011 Wiley-Liss, Inc. |
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Authors:
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Shanmuganathan Chandrakasan; Surjit Singh; Sunil Dogra; Jean Delaunay; Alexis Proust; Ranjana W Minz |
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Publication Detail:
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Type: Journal Article Date: 2011-02-23 |
Journal Detail:
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Title: Pediatric blood & cancer Volume: 56 ISSN: 1545-5017 ISO Abbreviation: Pediatr Blood Cancer Publication Date: 2011 Jul |
Date Detail:
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Created Date: 2011-04-13 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101186624 Medline TA: Pediatr Blood Cancer Country: United States |
Other Details:
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Languages: eng Pagination: 1130-2 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Wiley-Liss, Inc. |
Affiliation:
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Division of Pediatric Allergy and Immunology, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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