摘要目的 总结分析蓝色橡皮大疱痣综合征(BRBNS)的临床特征.方法 回顾性分析2001年来收治的4例和国内文献报道的30例BRBNS患者的临床资料,总结比较BRBNS的临床表现、家族史、内镜和影像学检查、病变部位、治疗方式、随访情况等.结果 BRBNS患者男女比例为1.8∶1,中位年龄为19.5岁.33例(97.1％)患者有消化道出血表现,发现消化道出血的中位年龄为9.0岁,其中9例(27.3％)以贫血为首发症状,1例并发肠套叠、肠坏死,同时伴有腹痛.2例患者有家族史.内镜和影像学检查以胃镜(85.3％)、结肠镜(73.5％)检出为主.病变主要累及皮肤(100.0％)和消化道(97.1％),其中在消化道的分布依次为胃(64.7％)、小肠(64.7％)、结直肠(58.8％)、食管(29.4％).治疗方法包括对症治疗、内镜治疗、外科手术等,内镜治疗多选用套扎、电凝电切,其中6例行内镜治疗的患者及4例行外科手术的患者短期随访未再出现消化道出血.结论 BRBNS病变主要累及皮肤和消化道,绝大多数并发消化道出血,内镜治疗和外科手术是目前疗效较好的治疗消化道出血的方式.

abstractsObjective To summarize and analyze the clinical characteristic of blue rubber bleb nevus syndrome (BRBNS).Methods The clinical data of four cases treated since 2001 and 30 BRBNS cases reported by domestic literature were retrospectively analyzed.The clinical manifestation,family history,endoscopy and imageology examination,site of lesions,treatment and follow up were analyzed.Results The male to female ratio was 1.8∶1 and median age was 19.5 years.A total of 33 cases (97.1％) presented with gastrointestinal bleeding,median age of gastrointestinal bleeding detected was 9.0 years.Among the 33 cases,anemiawas found as the primary symptom in nine cases (27.3％),and one case complicated with intussusception and intestinal necrosis accompanied with abdominal pain.Two cases have family history.Gastroscopy (85.3 ％) and colonoscopy(73.5 ％) were mainly examinations for detection.Lesions mainly involved skin (100.0％) and digestive tract (97.1％),and the locations of the lesion in digestive tract was stomach (64.7％),small intestine (64.7％),colon (58.8％),esophagus (29.4％).Treatment methods included symptomatic treatment,endoscopic therapy and surgery.Banding ligation and polypectomy resection were common endoscopic therapies.Gastrointestinal bleeding did not recur in six cases with endoscopic therapy and four cases receiving surgery during short-term follow up.Conclusions BRBNS lesions mainly involve skin and digestive tract,mostly complicated with gastrointestinal bleeding.For gastrointestinal bleeding,so far endoscopic therapy and surgery are the effective therapies.