| Literature DB >> 30975431 |
T L Orizaga-Y-Quiroga1, A Villarreal-Martínez1, G Jaramillo-Moreno1, J Ocampo-Candiani2.
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.Entities:
Keywords: Epistaxis; Osler-Rendu-Weber disease; Osler-Weber-Rendu; Telangiectasia
Mesh:
Year: 2019 PMID: 30975431 DOI: 10.1016/j.ad.2018.11.007
Source DB: PubMed Journal: Actas Dermosifiliogr (Engl Ed) ISSN: 2173-5778