Blue rubber bleb nevus syndrome

Abstract

The aim of our study is to enhance the awareness of blue rubber bleb nevus syndrome (BRBNS) through the patients in our hospital and introduced a new measure of endoscopic intervention.A retrospective review of 5 patients, who were diagnosed as BRBNS in our hospital from January 2013 to January 2017, was conducted. Data were collected with regard to demographics, clinical presentation, endoscopic and imaging findings, management, and follow-up data.In total of 5 patients, the mean age was 28.8 years, range 16 to 44 years (male/female, 1/4) with the average initial age of onset 15.4 years. No family history was identified in our group. Physical examination showed multiple cutaneous lesions in 2 patients (40%, 2/5). All the 5 patients had gastrointestinal tract vascular malformations; stomach involved in 2 cases, large intestine in 2 cases, and small intestine involved in 3 cases. Lesions in the visceral organs and tissue were found in 1 patient. Gastrointestinal bleeding was its main symptom (3/5, 60%). Laboratory investigations revealed anemia in 4 patients and abnormality of coagulopathy in 2 patients with severe anemia. Conservative approach was recommended in 3 cases that included iron supplementation, drug hemostasis, and/or blood transfusion. An innovatively therapeutic approach with endoscopic submucosal dissection (ESD) procedure was used successfully in 1 patient with 2 polypoid BRBNS lesions in rectum.BRBNS is a very rare vascular malformation syndrome with unclear etiopathogenesis and noncurative treatments. ESD procedure was a feasible approach to remove the partial gastrointestinal lesions.

Multiorgan Visceral Hemangiomas Presenting with Sequential Ruptures and Hemorrhage, Cardiac Thrombus, and Thromboembolic Phenomenon

“…The blue rubber bleb nevus syndrome (BRBNS) is a syndrome of multiple superficial and deep venous malformations (VMs). 12 Our case could have been BRBNS; however, cutaneous or mucosal lesions were not present, though a lesion was noted in the left lung.…”

Endoscopic and Surgical Management of Blue Rubber Bleb Nevus Syndrome

“…2 Nevertheless, if this approach is unsuccessful, an endoscopic, surgical, or combined approach (ie, laparotomy with intraoperative endoscopy 3 ) can be required. For a primary endoscopic intervention, different techniques have been described in case reports, including the use of a detachable snare, 4 submucosal dissection, 5 sclerotherapy, 6 argon plasma coagulation, 7 and EMR. 8–10 In our experience, the application of multiple techniques including EMR, hybrid ESD, and laparoscopy led to clinical success.…”

Blue Rubber Bleb Nevus Syndrome because of 12 Years of Iron Deficiency Anemia in a Patient by Double Balloon Enteroscopy; A Case Report and Review of Literature

“…29 Endoscopic treatments are another invasive method of excising GI lesions by means of sclerotherapy, laser photocoagulation, band ligation, Argon plasma coagulation (APC), snare mucosectomy and endoscopic submucosal dissection. 30 Several studies suggested to avoid endoscopic procedures such as APC in the small intestine because of its thin wall and risk of perforation, while other authors reported that endoscopic procedures such as polypectomy and band ligation increased the risk of perforation and ulceration in transmural lesions. 31,32 Therefore, surgical full thickness wedge resection seems to be a better option.…”