蓝色橡皮大疱痣综合征一例报告

Blue rubber bleb nevus syndrome: a rare cause of gastroenterol bleeding

蓝色橡皮大疱痣综合征(BRBNS)是一种罕见的原因尚不明确的疾病,特点为全身多发静脉畸形病灶。该文报道1例34岁女性,发现全身皮肤多发蓝紫色肿物20余年,反复黑便及鲜血便2年,并因严重贫血需长期输血治疗。全腹CT平扫可见肝脏、脾脏、肾脏、子宫、盆腔内及臀大肌内大量结节状病灶,血管造影显示病灶为静脉畸形。胃镜、肠镜、胶囊内镜显示全消化道共约150余处大小不一静脉畸形病灶并多发性出血。治疗包括半流和精细软食,补铁,沙利度胺(反应停)维持治疗,患者血红蛋白由56 g/L升至102 g/L并维持于该水平,未再出现显性出血,随诊2年病情稳定,后死于肾盂肾炎败血症。全身如此大量的病灶特别是大量胃肠道病灶在已有的BRBNS文献报道中尚属罕见,且对于多病灶出血,可试用沙利度胺以控制病情。

Blue rubber bleb nevus syndrome （BRBNS） is a rare disorder characterized by multiple venous malformations, with unknowed etiology. Herein, we report a thirty-four years old woman with multiple blue cutaneous masses for over 20 years, who had suffered melena and bloody stool for two years. She had se- vere anemia and had to receive blood transfusion for a long tenn. CT scan of abdomen showed a large number of nodular lesions in liver, kidney, uterus, pelvic cavity and gluteus maximus. Angiography confirmed those le-sion as venous malformations. Gastroscopy, colonoscopy, capsule endoscopy show nearly over 150 venous mal-formations throughout gastrointestinal tract and some of them were bleeding. Therapy included semi-flow and soil diet, iron supplement, and oral thalidomide. HGB of the patient increased from 56 g/L to 102 g/L. Domi-nant gastrointestinal bleeding disappeared and her condition remained well during two years of follow-up. Final-ly, she died of pyelonephritis and septicemia. It is extremely rare with so many lesions in gastrointestinal tract among the cases with BRBNS ever reported. Thalidomide is worthy to be used to control multiple centers bleed-lng.