Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient

نویسندگان

  • Jimyung Seo
  • Howard Chu
  • Jin Sung Lee
  • Do Young Kim
چکیده

264 Ann Dermatol Received February 24, 2015, Revised May 7, 2015, Accepted for publication May 7, 2015 Corresponding author: Do Young Kim, Department of Dermatology, Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemoon-gu, Seoul 03722, Korea. Tel: 82-2-2228-2080, Fax: 82-2-393-9157, E-mail: [email protected]. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/ licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Copyright © The Korean Dermatological Association and The Korean Society for Investigative Dermatology Dermatol 2002;27:250-251. 3. Aydogan K, Tunali S, Koran Karadogan S, Balaban Adim S, Turan H. Adult-onset Langerhans cell histiocytosis confined to the skin. J Eur Acad Dermatol Venereol 2006;20:890-892. 4. Furudate S, Fujimura T, Kambayashi Y, Kawano M, Ogasawara K, Tsukada A, et al. Successful treatment of adult onset Langerhans cell histiocytosis with bi-weekly administration of pegylated interferon-α. Acta Derm Venereol 2014;94: 611-612. 5. Fernandes LB, Guerra JG, Costa MB, Paiva IG, Duran FP, Jacó DN. Langerhans cells histiocytosis with vulvar involvement and responding to thalidomide therapy--case report. An Bras Dermatol 2011;86(4 Suppl 1):S78-S81.

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Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

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Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.

SUMMARY Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by severe and recurrent nosebleeds, mucocutaneous telangiectases, and, in some cases, life-threatening visceral arteriovenous malformations of various types, including pulmonary, hepatic, cerebral, and spinal. Gastrointestinal telangiectases are frequent and may cause severe bleeding. HH...

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CASE REPORT Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension

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عنوان ژورنال:

دوره 28  شماره 

صفحات  -

تاریخ انتشار 2016