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Vol. 110. Issue 7.
Pages 526-532 (September 2019)
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Vol. 110. Issue 7.
Pages 526-532 (September 2019)
Review
DOI: 10.1016/j.adengl.2019.06.003
Osler-Weber-Rendu Syndrome in Relation to Dermatology
Síndrome de Osler-Weber-Rendu y su relación con la dermatología
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T.L. Orizaga-y-Quiroga, A. Villarreal-Martínez, G. Jaramillo-Moreno, J. Ocampo-Candiani
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jocampo2000@yahoo.com.mx

Corresponding author.
Facultad de Medicina, Departamento de Dermatología, Universidad Autónoma de Nuevo León, Hospital Universitario «Dr. José E. González», Monterrey, Nuevo León, México
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Tables (4)
Table 1. Main HHT Mutations.
Table 2. Rebeiz Classification for Epistaxis Severity.
Table 3. Curaçao Diagnostic Criteria.
Table 4. Review of Case Reports of Telangiectases in HHT Treated With Laser Light.
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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:
Osler-Rendu-Weber disease
Telangiectasia
Epistaxis
Resumen

El síndrome de Osler-Weber-Rendu, o síndrome hereditario hemorrágico telangiectasia, es un trastorno raro de herencia autosómica dominante con una prevalencia estimada de 1:10.000 personas a nivel mundial. Las manifestaciones clínicas de este síndrome son resultado de malformaciones arteriovenosas y varían desde telangiectasias en piel y mucosas hasta afección de órganos sólidos que ponen en peligro la vida, como alteraciones hepáticas, émbolos sistémicos y fallo cardíaco, por lo cual el diagnóstico oportuno es de suma importancia para prevenir las complicaciones de la enfermedad y proporcionar apoyo genético a los familiares. En esta revisión se analiza el cuadro clínico con enfoque principal en las manifestaciones mucocutáneas de la enfermedad y su abordaje terapéutico.

Palabras clave:
Osler-Weber-Rendu
Telangiectasia
Epistaxis

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