Literature DB >> 20523789

A case of hereditary hemorrhagic telangiectasia.

Ha Eun Lee1, Chan Sagong, Kwang Yeoll Yeo, Joo Yeon Ko, Joung Soo Kim, Hee Joon Yu.   

Abstract

Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, is an autosomal dominant disorder of the fibrovascular tissue. It is characterized by the classic triad of mucocutaneous telangiectasias, recurrent hemorrhages, and familial occurrence. The cutaneous manifestation appear clinically as punctuate, linear, or splinter-like telangiectasias of the upper body, oral, and nasal mucous membranes, and nail beds. A 73-year-old woman presented with purpuric, punctuate, and tiny macules on the finger tips of both hands and the tongue. The skin lesions were discovered about 50 years previously. She had a family history of cutaneous telangiectasia. Also, she had episodes of recurrent epistaxis, gastrointestinal bleeding, and anemia. The gastroendoscopy revealed gastric angiodysplasia of the fundus and body of the stomach. The histopathologic study showed dilated capillaries lined by flat endothelial cells in the papillary dermis. From these findings, we diagnosed this case as hereditary hemorrhagic telangiectasia, which has rarely been reported in the dermatologic literature.

Entities:  

Keywords:  Hereditary hemorrhagic telangiectasia; Osler-Weber-Rendu disease

Year:  2009        PMID: 20523789      PMCID: PMC2861208          DOI: 10.5021/ad.2009.21.2.206

Source DB:  PubMed          Journal:  Ann Dermatol        ISSN: 1013-9087            Impact factor:   1.444


  7 in total

1.  Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.

Authors:  Aaron D Bossler; Jennifer Richards; Cicily George; Lynn Godmilow; Arupa Ganguly
Journal:  Hum Mutat       Date:  2006-07       Impact factor: 4.878

Review 2.  Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures.

Authors:  Haneen Sadick; Maliha Sadick; Karl Götte; Ramin Naim; Frank Riedel; Gregor Bran; Karl Hörmann
Journal:  Wien Klin Wochenschr       Date:  2006-03       Impact factor: 1.704

Review 3.  Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Authors:  S A Abdalla; M Letarte
Journal:  J Med Genet       Date:  2005-05-06       Impact factor: 6.318

Review 4.  Rendu-Osler-Weber disease: update of medical and dental considerations.

Authors:  E C te Veldhuis; A H te Veldhuis; F S van Dijk; M L Kwee; J M van Hagen; J A Baart; I van der Waal
Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol Endod       Date:  2008-02

Review 5.  Vascular malformations. Part II: associated syndromes.

Authors:  Maria C Garzon; Jennifer T Huang; Odile Enjolras; Ilona J Frieden
Journal:  J Am Acad Dermatol       Date:  2007-04       Impact factor: 11.527

6.  Treatment of cutaneous and mucosal telangiectases in hereditary hemorrhagic telangiectasia: Report of three cases.

Authors:  Beatriz Fernández-Jorge; Jesús Del Pozo Losada; Sabela Paradela; Covadonga Martínez-González; Edvardo Fonseca
Journal:  J Cosmet Laser Ther       Date:  2007-03       Impact factor: 2.247

Review 7.  Rendu-Osler-Weber Syndrome: case report and literature review.

Authors:  Antônio José Cortez Juares; Alfredo Rafael Dell'Aringa; José Carlos Nardi; Kazue Kobari; Vera Lúcia Muller Gradim Moron Rodrigues; Renato Martins Perches Filho
Journal:  Braz J Otorhinolaryngol       Date:  2008 May-Jun
  7 in total
  4 in total

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

Authors:  Jimyung Seo; Howard Chu; Jin Sung Lee; Do Young Kim
Journal:  Ann Dermatol       Date:  2016-03-31       Impact factor: 1.444

2.  Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu syndrome).

Authors:  Michael A Santos
Journal:  J Gen Intern Med       Date:  2016-10-06       Impact factor: 5.128

3.  Hereditary Hemorrhagic Telangiectasia: A Rare Cause of Anemia.

Authors:  Waseem Jan; Asim Tameez Ud Din; Farooq Mohyud Din Chaudhary; Ahsan Tameez-Ud-Din; Faisal Nawaz
Journal:  Cureus       Date:  2019-08-08

4.  Hereditary haemorrhagic telangiectasia in a patient taking anticoagulant drugs who has sustained facial trauma.

Authors:  Bartłomiej Kamiński; Katarzyna Błochowiak; Karolina Olek-Hrab; Jerzy Sokalski; Henryk Witmanowski
Journal:  Postepy Dermatol Alergol       Date:  2013-06-20       Impact factor: 1.837

  4 in total

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