Literature DB >> 29217066

Hereditary Hemorrhagic Telangiectasia.

Thomas Kühnel1, Kornelia Wirsching2, Walter Wohlgemuth2, Ajay Chavan2, Katja Evert2, Veronika Vielsmeier2.   

Abstract

Hereditary hemorrhagic telangiectasia (HHT) describes the presenting manifestations of a disorder that is characterized by pathologic blood vessels. HHT is inherited as an autosomal dominant trait with variable penetrance. The abnormal vascular structures (dysplasias) can affect all the organs in the human body. The link between a physical stimulus and new lesion development has been established for mucosal trauma owing to nasal airflow turbulence, for ultraviolet exposure to the fingers, and for mechanical trauma to the dominant hand. The pressing question then is whether HHT treatment constitutes a stimulus that is sufficient to trigger new lesion development.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Dysplasias; Hereditary hemorrhagic telangiectasia; Mucocutaneous lesions; Osler-Weber-Rendu syndrome

Mesh:

Year:  2018        PMID: 29217066     DOI: 10.1016/j.otc.2017.09.017

Source DB:  PubMed          Journal:  Otolaryngol Clin North Am        ISSN: 0030-6665            Impact factor:   3.346


  10 in total

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Authors:  Tucker L Apgar; Charles R Sanders
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2.  Life-Threatening Intraventricular Rupture of Brain Abscess in a Patient With Undiagnosed Hereditary Hemorrhagic Telangiectasia.

Authors:  Christopher M Nguyen; Jessica Stauber; Michelle Baliss; David Reynoso
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Review 4.  Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.

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Journal:  Haematologica       Date:  2018-05-24       Impact factor: 9.941

5.  Autologous correction in patient induced pluripotent stem cell-endothelial cells to identify a novel pathogenic mutation of hereditary hemorrhagic telangiectasia.

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Review 7.  A case of hereditary hemorrhagic telangiectasia and literature review.

Authors:  Yu Han; Bingjie Ding; Mengjuan Li; Xuewen Song; Liu Liu; Hu Zhou
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8.  Case Report: Clinical characteristics and genetic analysis of two patients with hereditary hemorrhagic telangiectasia.

Authors:  Qiu-Ying Wang; Yu-Xuan Feng; Ying-Wei Zhu; Yu-Xia Sun; Jing-Duan Xu; Hui-Min Shi; Yi-Min Mao; Hong-Wei Jiang
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9.  Vascular and Lymphatic Malformations: Perspectives From Human and Vertebrate Studies.

Authors:  Harish P Janardhan; Sherin Saheera; Roy Jung; Chinmay M Trivedi
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10.  Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

Authors:  Kana Kitayama; Tomoya Ishiguro; Masaki Komiyama; Takayuki Morisaki; Hiroko Morisaki; Gaku Minase; Kohei Hamanaka; Satoko Miyatake; Naomichi Matsumoto; Masaru Kato; Toru Takahashi; Tohru Yorifuji
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  10 in total

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