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유전성 출혈성 모세혈관 확장증 1예

A Case of Hereditary Hemorrhagic Telangiectasia

대한피부과학회지 2020년 58권 7호 p.476 ~ 479
류건욱, 박형건, 이지범, 김성진, 이승철, 원영호, 윤숙정,
소속 상세정보
류건욱 ( Ryu Geon-Wook ) - Chonnam National University Hospital Department of Dermatology
박형건 ( Park Hyung-Keon ) - Chonnam National University Hospital Department of Dermatology
이지범 ( Lee Jee-Bum ) - Chonnam National University Hospital Department of Dermatology
김성진 ( Kim Seong-Jin ) - Chonnam National University Hospital Department of Dermatology
이승철 ( Lee Seung-Chul ) - Chonnam National University Hospital Department of Dermatology
원영호 ( Won Young-Ho ) - Chonnam National University Hospital Department of Dermatology
윤숙정 ( Yun Sook-Jung ) - Chonnam National University Hospital Department of Dermatology

Abstract


Hereditary hemorrhagic telangiectasia (HHT), also known as Osler?Weber?Rendu syndrome, is a rare autosomal dominant genetic disorder that results in vascular malformation in the skin, mucous membrane, and other internal organs, such as the gastrointestinal tract, lung, liver, and brain. A 49-year-old man presented with purpuric punctate, spider-like telangiectasia on the face, hands, and fingers. He had episodes of recurrent nasal bleeding. The family members of the patient had similar events of recurrent nasal bleeding and cutaneous telangiectasia. Abdominal computed tomography revealed multiple arteriovenous malformations and cysts in the liver. Gastroendoscopy and colonoscopy showed angiodysplasia of the fundus of the stomach and mucous membrane of the colon. Histopathologic examination revealed dilated vessels lined with flat endothelial cells in the dermis. We report herein the case of HTT because it is rare and significant for differential diagnosis.

키워드

Hereditary hemorrhagic telangiectasia; Osler?Weber?Rendu disease

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