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]
Affiliations
- 1 Facultad de Medicina, Departamento de Dermatología, Universidad Autónoma de Nuevo León, Hospital Universitario «Dr. José E. González», Monterrey, Nuevo León, México.
- 2 Facultad de Medicina, Departamento de Dermatología, Universidad Autónoma de Nuevo León, Hospital Universitario «Dr. José E. González», Monterrey, Nuevo León, México. Electronic address: jocampo2000@yahoo.com.mx.
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.
Copyright © 2019 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.
MeSH terms
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Arteriovenous Malformations / complications
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Epistaxis / etiology
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Gastrointestinal Diseases / etiology
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Humans
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Intracranial Arteriovenous Malformations / etiology
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Liver Diseases / etiology
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Lung Diseases / etiology
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Skin Diseases, Vascular / etiology
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Telangiectasia, Hereditary Hemorrhagic / complications*
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Telangiectasia, Hereditary Hemorrhagic / diagnosis
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Telangiectasia, Hereditary Hemorrhagic / genetics
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Telangiectasia, Hereditary Hemorrhagic / therapy