Barbosa Aline Blanco, Hans Filho Günter, Vicari Carolina Faria dos Santos, Medeiros Marcelo Zanolli, Couto Daíne Vargas, Takita Luiz Carlos
Hospital São Julião, Campo Grande, MS, BR.
Universidade Federal do Mato Grosso do Sul, Campo Grande, MS, BR.
An Bras Dermatol. 2015 May-Jun;90(3 Suppl 1):226-8. doi: 10.1590/abd1806-4841.20152563.
The Rendu-Osler-Weber syndrome is a rare systemic fibrovascular dysplasia, recognized by mucocutaneous telangiectasias, arteriovenous malformations, epistaxis and family history. Recurrent bleeding, hypoxemia, congestive heart failure, portosystemic encephalopathy, and symptoms related to angiodysplasia of the central nervous system may occur. Since the treatment is based on supportive measures, early recognition is of utmost importance. This article reports the case of a 53-year-old male patient who presented telangiectasias on fingers, oral cavity and nasal mucosa for 10 years, with a history of recurrent epistaxis of varying severity since childhood. Mother, sister and daughter have similar lesions.
遗传性出血性毛细血管扩张症是一种罕见的系统性纤维血管发育异常疾病，其特征为黏膜皮肤毛细血管扩张、动静脉畸形、鼻出血及家族史。可能会出现反复出血、低氧血症、充血性心力衰竭、门体性脑病以及与中枢神经系统血管发育异常相关的症状。由于治疗基于支持性措施，早期识别至关重要。本文报告了一例53岁男性患者，其手指、口腔和鼻黏膜出现毛细血管扩张10年，自幼有不同程度的反复鼻出血病史。母亲、姐姐和女儿有类似病变。
