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

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Feb;105(2):e38-41. doi: 10.1016/j.tripleo.2007.08.017.

Abstract

Rendu-Osler-Weber disease, also known as hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant inherited disorder characterized by an aberrant vascular development. The reported prevalence is approximately 1 per 5,000-10,000. The clinical manifestations consist of recurrent spontaneous nosebleeds, telangiectasias characteristically at the lips, oral cavity, fingers, and nose, and visceral arteriovenous malformations. Timely recognition of this syndrome makes screening for complications, preventive measurements, and genetic counselling possible. The important role of the dental profession in the recognition of this genetic disease is emphasized. In addition, a brief overview of the current literature is presented.

Publication types

  • Review

MeSH terms

  • Activin Receptors, Type II / genetics
  • Antigens, CD / genetics
  • Endoglin
  • Female
  • Genes, Dominant
  • Humans
  • Lip Diseases / etiology*
  • Male
  • Middle Aged
  • Mutation
  • Receptors, Cell Surface / genetics
  • Smad4 Protein / genetics
  • Telangiectasia, Hereditary Hemorrhagic / complications*
  • Telangiectasia, Hereditary Hemorrhagic / genetics
  • Telangiectasia, Hereditary Hemorrhagic / therapy
  • Tongue Diseases / etiology*

Substances

  • Antigens, CD
  • ENG protein, human
  • Endoglin
  • Receptors, Cell Surface
  • SMAD4 protein, human
  • Smad4 Protein
  • ACVRL1 protein, human
  • Activin Receptors, Type II