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Actas Dermosifiliogr (Engl Ed) ; 110(7): 526-532, 2019 Sep.
Artículo en Inglés, Español | MEDLINE | ID: mdl-30975431

RESUMEN

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.


Asunto(s)
Telangiectasia Hemorrágica Hereditaria/complicaciones , Malformaciones Arteriovenosas/complicaciones , Epistaxis/etiología , Enfermedades Gastrointestinales/etiología , Humanos , Malformaciones Arteriovenosas Intracraneales/etiología , Hepatopatías/etiología , Enfermedades Pulmonares/etiología , Enfermedades Cutáneas Vasculares/etiología , Telangiectasia Hemorrágica Hereditaria/diagnóstico , Telangiectasia Hemorrágica Hereditaria/genética , Telangiectasia Hemorrágica Hereditaria/terapia
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