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KMID : 0363220200580070476
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Korean Journal of Dermatology
2020 Volume.58 No. 7 p.476 ~ p.479
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A Case of Hereditary Hemorrhagic Telangiectasia
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Ryu Geon-Wook
Park Hyung-Keon
Lee Jee-Bum
Kim Seong-Jin
Lee Seung-Chul
Won Young-Ho
Yun Sook-Jung
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Abstract
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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.
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KEYWORD
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Hereditary hemorrhagic telangiectasia, Osler?Weber?Rendu disease
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