Orizaga-Y-Quiroga T L, Villarreal-Martínez A, Jaramillo-Moreno G, Ocampo-Candiani J
Facultad de Medicina, Departamento de Dermatología, Universidad Autónoma de Nuevo León, Hospital Universitario «Dr. José E. González», Monterrey, Nuevo León, México.
Facultad de Medicina, Departamento de Dermatología, Universidad Autónoma de Nuevo León, Hospital Universitario «Dr. José E. González», Monterrey, Nuevo León, México.
Actas Dermosifiliogr (Engl Ed). 2019 Sep;110(7):526-532. doi: 10.1016/j.ad.2018.11.007. Epub 2019 Apr 8.
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.
奥斯勒-韦伯-伦杜综合征，又称遗传性出血性毛细血管扩张症，是一种罕见的常染色体显性疾病，全球估计患病率约为万分之一。其临床表现是由毛细血管扩张所导致的动静脉畸形的结果，可影响皮肤、黏膜和实体器官，并引发危及生命的病症，如肝病、全身性栓塞和心力衰竭。因此，为预防疾病相关并发症并为家庭提供遗传咨询，及时诊断至关重要。我们回顾了奥斯勒-韦伯-伦杜综合征的临床特征，重点关注皮肤黏膜表现及其治疗。
