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A case of hereditary hemorrhagic telangiectasia

Korean Journal of Pediatrics 2007;50(10):1018-1023.
Published online October 15, 2007.
A case of hereditary hemorrhagic telangiectasia
Young Seung Lee, Seonguk Kim, Eun Kyeong Kang, June Dong Park
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
유전성 출혈성 모세혈관 확장증 1례
이영승, 김성국, 강은경, 박준동
서울대학교 의과대학 소아과학교실
Correspondence: 
June Dong Park, Email: jdparkmd@snu.ac.kr
Abstract
Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are all due to abnormalities of the vascular structure. This report deals with the case of a 14-year-old girl with typical features of HHT that include recurrent epistaxis, mucocutanous telangiectases, pulmonary and cerebral AVMs and a familial occurrence.
Key Words: Telangiectasia, Hereditary Hemorrhagic, Recurrence, Epistaxis, Arteriovenous Malformations, Inheritance Patterns


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