Blue Rubber Bleb Nevus Syndrome: Extensive small bowel vascular lesions responsible for gastrointestinal bleeding (original) (raw)
Related papers
2009
Blue rubber bleb nevus syndrome is a sporadic disease with widely distributed dark blue papules and nodules and soft skin-colored compressible protuberances (rubber blebs) as well as large vascular malformations. Gasterointestinal lesions are documented by upper endoscopy and colonoscopy; hemorrhages from these lesions create irondeficinecy anemia. Other sites of visceral involvement are less common. We report a 20-year-old male with multiple blue venous nodules on the face, neck, trunk and limbs with occasional bleeding. In addition, he had similar lesions in buccal mucosa and genitalia. Endoscopic examination revealed blue nodular lesions in gastrointestinal tract. Lab tests showed iron deficiency anemia.
Journal of community hospital internal medicine perspectives, 2016
Blue rubber bleb nevus syndrome (BRBNS) is a congenital disorder with characteristic venous anomalies that can present with varying degree of blood loss. The most clinically significant symptoms in adults include gastrointestinal (GI) bleeding and iron deficiency anemia. Severe complications can include intestinal torsion, intussusception, and even perforation, with each leading to significant morbidity and mortality. This report serves to give a brief understanding of this rare disease along with current diagnostic and therapeutic options.
Journal of Medical Science, 2017
Blue rubber bleb nevus syndrome (BRBNS) is an uncommon condition presenting with multiple cutaneous and visceral vascular malformations, predominantly in the gastrointestinal (GI) tract. Typical skin lesion consists of a blue, soft tumor of a rubber like cohesiveness, that is easily compressible and refills slowly on release of pressure. The GI lesions are more clinically relevant, as they may induce chronic bleeding or even life threatening massive hemorrhages. This report presents a case of BRBNS diagnosed in a 52-year-old male with signs of lower gastrointestinal bleeding. The patient presented with melena, fatigue and severe anemia, which were treated by numerous blood transfusions and iron supplementation. Multiple vascular changes were visualized in the small intestine. A typical skin lesion was also present in the skin. Additionally, this report describes the clinical aspects of the syndrome, diagnostic preferences, as well as possible critical complications.
Blue rubber bleb nevus syndrome as a cause of lower digestive bleeding
Case reports in surgery, 2014
Introduction. Blue rubber bleb nevus syndrome is a rare disorder that is characterized by multiple recurrent vascular malformations that involve the skin and the gastrointestinal tract. The disease can present chronic anemia and severe episodes of gastrointestinal bleeding. Case Report. A 41-year-old man was admitted with recurrent episodes of lower gastrointestinal bleeding and anemia that had worsened over the last 3 months. The physical examination showed soft, diffuse, compressible, bluish nodules on all of the skin surfaces of the body. A biopsy from one of these skin lesions allowed a histological diagnosis of cavernous hemangioma. He submitted to a colonoscopy, which showed hemorrhoids and a plane vascular lesion mainly located on the right colon with recent signs of bleeding; this lesion was treated by local excision and sclerosis. The pathological study of the colon specimens also reflected the presence of cavernous hemangioma. The cutaneous hemangiomas and the presence of ...
Small bowel involvement in blue rubber bleb nevus syndrome: MR imaging features
Abdominal Imaging, 2009
Blue rubber bleb nevus syndrome (BRBNS) is a rare condition which is characterized by multiple venous malformations that may affect several organs. Gastrointestinal lesions, which mostly involve the small bowel and distal colon, may be responsible for gastrointestinal bleeding, causing more frequently chronic anemia. We report herein two cases of BRBNS causing gastrointestinal bleeding which were investigated by means of MR imaging. All venous malformations showed markedly high signal intensity on fat-suppressed T2-weighted MR images. In addition, extraintestinal venous malformations displayed high signal intensity similar to that of small bowel venous malformations. Fat-suppressed T2-weighted TSE images show both small bowel and colonic involvement, thus providing useful information relative to the most appropriate therapeutic approach to be used. MR imaging is especially helpful when capsule endoscopy or enteroscopy are contraindicated or not feasible. In addition, because of lack of radiation, MR imaging can be performed repeatedly to assess the evolution of the disease before a planned surgery or endoscopic resection. Also, because BRBNS is by essence a multifocal condition with extraintestinal involvement, MR imaging appears as an appropriate imaging technique to investigate the multiple locations of the disease in one session, thus replacing multiple examinations.
Middle East journal of digestive diseases, 2013
Blue Rubber Bleb Nevus Syndrome is a rare disorder that is characterizedby multiple recurrent vascular malformations of skin and gastrointestinal tract.The affected patients may present with diverse manifestations including irondeficiency anemia. We report this syndrome in a 22-year-old man that was referred to our hospitalfor iron deficiency anemia with unknown cause and vascular malformationsin the skin and gastrointestinal tract. Because of stable hemoglobin level,we decided to treatment him by iron supplementation and close follow up. Wereport this case along with a review of literature.
Surgery for Blue Rubber Bleb Nevus Syndrome—a Case Report
Indian Journal of Surgery
Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterised by multiple venous malformations and haemangioma in the skin and visceral organs. The lesion often involves the cutaneous and gastrointestinal tract. Most common visceral organ affected is the GIT. Most predominant region involved in the GIT is small bowel. However, vascular lesions can occur anywhere from oral mucosa to anal canal. GIT bleed is relatively slow, resulting in minor, chronic and occult blood loss. The syndrome in the GIT may also present with severe complications such as rupture, volvulus, intussusceptions and even death. Cutaneous malformations are usually asymptomatic and do not require treatment. The treatment of GIT lesions is determined by the extent of intestinal involvement and severity of the disease. Most patients respond to supportive therapy such as iron supplementation and blood transfusion. Surgical resection, endoscopic sclerosis and laser photocoagulation have been proposed for more significant haemorrhage and severe complications. Here, we present a case of BRBNS in a 13-year-old girl involving the GIT especially the large bowel, presenting with the complaints of bleeding per rectum and iron deficiency anaemia. Initially, endoscopic sclerotherapy was performed, but to no response. Hence, proceeded with surgical resection.
Pediatric Surgery International, 2007
Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, even fatal bleeding and anemia. The syndrome is considered to be autosomaly predominantly inherited. Intra-operative enteroscopy (IOE) is the best method of identification of all lesions (particularly the small ones, less than 3 mm) and treatment by endoscopic electro-coagulation or surgical excision. Capsule wireless endoscopy is optimal for screening before the IOE and for monitoring the effect of therapy (in patients with BRBNS). We report two cases of BRBNS. Anemia, gastrointestinal bleeding, gastrointestinal malformations and multifocal venous malformations of the skin were present in both of our cases. Gastrointestinal lesions were identified by gastroscopy, colonoscopy and capsule endoscopy. The multiple venous malformations were treated partly by endoscopic electro-coagulation (lesions up to 4 mm in diameter) and by wedge resection. Both of our patients were 12-year-old girls at the time of operation. In the first patient 31 venous malformations of the small bowel were coagulated, two were resected by the surgeon. In the second patient 20 lesions were coagulated endoscopically and another 31 nevi were resected during an 8 h procedure. The first girl is doing fine 4 years after the procedure, the second was allowed home 2 weeks after the procedure in excellent condition. IOE is a unique method of small bowel investigation and concurrently provides a solution for pathological findings. Capsule endoscopy is a feasible non-invasive screening procedure. We believe that a radical eliminatory approach by means of combined surgery and IOE is indicated for the BRBNS to prevent ongoing gastrointestinal bleeding.