A case of hereditary hemorrhagic telangiectasia.
10.3345/kjp.2007.50.10.1018
- Author:
Young Seung LEE
1
;
Seonguk KIM
;
Eun Kyeong KANG
;
June Dong PARK
Author Information
1. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. jdparkmd@snu.ac.kr
- Publication Type:Case Report
- Keywords:
Telangiectasia;
Hereditary Hemorrhagic;
Recurrence;
Epistaxis;
Arteriovenous Malformations;
Inheritance Patterns
- MeSH:
Adolescent;
Arteriovenous Malformations;
Epistaxis;
Female;
Humans;
Inheritance Patterns;
Recurrence;
Telangiectasia, Hereditary Hemorrhagic*;
Telangiectasis;
Wills
- From:Korean Journal of Pediatrics
2007;50(10):1018-1023
- CountryRepublic of Korea
- Language:English
-
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.
