Korean J Dermatol.  2020 Aug;58(7):476-479.

A Case of Hereditary Hemorrhagic Telangiectasia

Affiliations
  • 1Department of Dermatology, Chonnam National University Hospital, Gwangju, Korea

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.

Keyword

Hereditary hemorrhagic telangiectasia; Osler–Weber–Rendu disease
Full Text Links
  • KJD
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2020 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr