Osler-Weber-Rendu Syndrome in Relation to Dermatology

Actas Dermosifiliogr (Engl Ed). 2019 Sep;110(7):526-532. doi: 10.1016/j.ad.2018.11.007. Epub 2019 Apr 8.
[Article in English, Spanish]

Abstract

Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder with an estimated worldwide prevalence of 1 case per 10,000 population. Its clinical manifestations are the result of arteriovenous malformations characterized by telangiectases that can affect the skin, mucous membranes, and solid organs and cause life-threatening conditions, such as liver disease, systemic emboli, and heart failure. Timely diagnosis is thus essential in order to prevent disease-related complications and offer genetic counseling to families. We review the clinical features of Osler-Weber-Rendu syndrome with a focus on mucocutaneous manifestations and their treatment.

Keywords: Epistaxis; Osler-Rendu-Weber disease; Osler-Weber-Rendu; Telangiectasia.

Publication types

  • Review

MeSH terms

  • Arteriovenous Malformations / complications
  • Epistaxis / etiology
  • Gastrointestinal Diseases / etiology
  • Humans
  • Intracranial Arteriovenous Malformations / etiology
  • Liver Diseases / etiology
  • Lung Diseases / etiology
  • Skin Diseases, Vascular / etiology
  • Telangiectasia, Hereditary Hemorrhagic / complications*
  • Telangiectasia, Hereditary Hemorrhagic / diagnosis
  • Telangiectasia, Hereditary Hemorrhagic / genetics
  • Telangiectasia, Hereditary Hemorrhagic / therapy