遗传性出血性毛细血管扩张症是一种毛细血管、小静脉血管壁先天性结构发育异常的常染色体显性遗传病,常以反复鼻衄和齿龈出血为主要表现。本文报告以反复鼻衄为临床表现的同一家系9例及家系调查。 先证者 Ⅲ_2,男,58岁,已婚,油漆工,因反复鼻衄50年,加重3年于1995年12月20日入院。查体:轻度贫血貌,巩膜无黄染,全身浅表淋巴结无肿大,全身无瘀斑。手指末端、指甲下、舌尖部、口腔粘膜牙面均可见散在及丛状血管瘤,直径约0.1cm,边界消,高出皮面,压之褪色。胸骨无压痛,心肿听诊无异常,肝脾未触及。鼻腔镜检查:鼻粘膜充血,两侧中膈及下鼻甲粘膜表面较多散在紫红色结节型隆起,边界清,直径0.1cm。化验: Hereditary hemorrhagic telangiectasia is a capillary, venous wall congenital structural abnormalities of the autosomal dominant genetic disease, often repeated epistaxis and gingival bleeding as the main performance. This article reports repeated Ephemeris clinical manifestations of the same family of 9 cases and pedigree investigation. The probands Ⅲ_2, male, 58 years old, married, painter, due to repeated epistaxis for 50 years, aggravating the 3-year admission on December 20, 1995. Physical examination: mild anemia, scleral no yellow dye, systemic superficial lymph nodes without swelling, body ecchymosis. Fingers, nails, tongue tip, oral mucosal tooth surface are visible scattered and plexiform hemangiomas, a diameter of about 0.1cm, the border consumption, higher than the leather, the pressure of fading. Sternal no tenderness, no abnormal cardiac auscultation, liver and spleen not touched. Nasal examination: nasal mucosal congestion, both sides of the diaphragm and lower turbinate mucosal surface more scattered purple red nodular bulge, border clearance, diameter 0.1cm. assay: