Medicine (Baltimore) 2017 Aug;96(33):e7792

aDepartment of Gastroenterology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang Province bDepartment of Nephrology, Jilin City Central Hospital, Jilin, Jilin Province, China.

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. Read More

Endoscopy 2017 Jun 2;49(6):E149-E150. Epub 2017 May 2.

Department of Gastroenterology, West China Hospital, Sichuan University, Chengdu, China.

Indian Pediatr 2017 Jan;54(1):53-54

Department of Pediatric Oncology, Hacettepe University, Cancer Institute, 06100 Ankara-Turkey. Correspondence to: Dr Burca Aydin, Department of Pediatric Oncology, Hacettepe University, Cancer Institute, 06100 Ankara-Turkey.

Background: Blue rubber bleb nevus syndrome is a rare disease involving venous malformations.

Case Characteristics: We present a 6-year-old female with the syndrome, and consumptive coagulopathy.

Intervention/outcome: After management with sirolimus, symptoms resolved. Read More

J Invest Dermatol 2017 Jan;137(1):15-17

Department of Dermatology, Emory University School of Medicine, Atlanta Veterans Administration Medical Center, Winship Cancer Institute, Atlanta, Georgia, USA.

Soblet et al. describe cis mutations in TEK/Tie-2 in blue rubber bleb nevus and sporadic vascular malformations. This suggests that the remaining normal allele is required for the phenotype. Read More

J Craniofac Surg 2016 Nov;27(8):e737-e738

*I Department of Obstetrics and Gynaecology, The Centre of Postgraduate Medical Education†Center for Craniofacial Disorders, Institute of Mother and Child, Warsaw, Poland.

The authors present a clinical report of the giant fetal tumor protruding from the oral cavity diagnosed sonographically at 32 weeks of gestation as an epignathus. After delivery, tumor proved to be a presentation of the blue rubber bleb nevus syndrome. To the best of our knowledge, the literature offers no reports on similar cases. Read More

BMJ Case Rep 2016 Dec 20;2016. Epub 2016 Dec 20.

Department of Pediatrics, Aarhus Universitetshospital, Aarhus, Denmark.

Blue rubber bleb naevus syndrome (BRBNS) is a rare vascular disorder with malformed veins, or blebs, appearing in the skin or internal organs. Gastrointestinal tract involvement is the most common feature and often subject to bleeding, potentially resulting in chronic occult blood loss and iron deficiency anaemia. We present the case of a 10-year-old boy with venous malformations on the feet and severe anaemia. Read More

Nan Fang Yi Ke Da Xue Xue Bao 2016 Dec;36(12):1599-1601

Department of Nuclear Medicine, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China. E-mail:

Objective: The co-occurrence of blue rubber bleb nevus syndrome (BRBNS) and ventricular septal defects is rare. Here we present a case of BRBNS in a 15-year-old boy who was born with multiple cavernous hemangiomas and a ventricular septal defect. Examinations revealed the presence of hemangioma lesions in the subcutaneous and mucosal tissues as well as in the cerebrum, nasopharynx, tongue, esophagus, gastric body, sigmoid colon and adrenal gland. Read More

Acta Gastroenterol Belg 2016 Jul-Sep;79(3):393-394

A 70-year-old man was admitted to our clinic with a history of rectal bleeding and constipation, his colonoscopy revealed varicosities and bluish nodular lesions of the rectum (Figure 1). Abdominal CT showed multiple nodular lesions beginning from the distal descending colon and extending to the rectum, calcifications suggesting phleboliths were also seen in these lesions. A contrast enhanced pelvic MRI demonstrated multiple tubular lesions showing hyperintensity on T2-weighted images and hypointensity on T1-weighted images, consistent with the affected areas on the CT scan (Figure 2). Read More

J Pediatr Hematol Oncol 2017 Mar;39(2):147-149

Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey.

Recently, sirolimus was demonstrated to be effective in treating vascular lesions and lessening the frequency of bleeding and secondary iron deficiency anemia. We present a child with blue rubber bleb nevus syndrome who had prolonged history of iron deficiency anemia secondary to unrecognized gastrointestinal bleeding. Treatment with propranolol, omeprazole and iron had failed. Read More

Radiol Bras 2016 Jul-Aug;49(4):257-263

Tenured Associate Professor in the Department of Diagnostic Imaging of the Escola Paulista de Medicina da Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brazil.

Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital-including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)-or compressive-including "nutcracker" syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. Read More

Semin Cutan Med Surg 2016 Sep;35(3):153-60

Departments of Dermatology and Pediatrics, Columbia University Medical Center, New York, New York, USA.

Multifocal vascular lesions are important to recognize and appropriately diagnose. Generally first noticed on the skin, multifocal vascular lesions may have systemic involvement. Distinguishing among the different types of multifocal vascular lesions is often based on clinical features; however, radiological imaging and/or biopsy are frequently needed to identify distinct features and guide treatment. Read More

Semin Cutan Med Surg 2016 Sep;35(3):128-36

Johns Hopkins School of Medicine, Department of Dermatology, Baltimore, Maryland, USA.

The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome. Read More

J Invest Dermatol 2017 Jan 9;137(1):207-216. Epub 2016 Aug 9.

Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium. Electronic address:

Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomonic. We discovered somatic mutations in TEK, the gene encoding TIE2, in 15 of 17 individuals with blue rubber bleb nevus syndrome. Somatic mutations were also identified in five of six individuals with sporadically occurring multifocal venous malformations. Read More

Indian Pediatr 2016 Jun;53(6):525-7

Departments of Dermatology and STD, and *Radiology, University College of Medical Sciences and GTB Hospital (University of Delhi), Dilshad Garden, Delhi, India. Correspondence to: Dr (Prof) Archana Singal, University College of Medical Sciences and GTB Hospital, Delhi 110 095, India.

Background: Blue rubber bleb nevus syndrome is a rare clinical entity.

Case Characteristics: A 13-year-old Indian boy presented with characteristic cutaneous lesions, gastrointestinal malformations, skeletal involvement and pulmonary stenosis.

Observations: Diagnosis was confirmed on skin biopsy, radiographic evaluation, colonoscopy and echocardiography. Read More

Proc (Bayl Univ Med Cent) 2016 Jul;29(3):323-4

Department of Surgery (Gonzalez-Hernandez) and the Division of Gastroenterology, Department of Internal Medicine (Lizardo-Sanchez), Baylor University Medical Center at Dallas.

A 69-year-old white man presented with several episodes of hematochezia. Colonoscopy demonstrated multiple colonic blebs localized mainly in the distal transverse colon. Esophagogastroduodenoscopy, capsule endoscopy, and computed tomography of the abdomen did not reveal any abnormalities. Read More

Pediatr Blood Cancer 2016 Nov 8;63(11):1911-4. Epub 2016 Jun 8.

Vascular Anomalies Center, Boston Children's Hospital, Boston, Massachusetts.

Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare multifocal venous malformation syndrome involving predominantly the skin and gastrointestinal tract. Traditional treatment modalities include corticosteroids, interferon-α, sclerotherapy, and aggressive surgical resection. Sirolimus has been used in several single case reports. Read More

Masui 2016 Apr;65(4):384-6

We report the anesthetic management of a pediatric case of blue rubber bleb nevi syndrome combined with small-intestinal intussusception. A 2-year-old girl was transferred to our hospital for small-intestinal intussusception. Emergent ablation of the upper gastrointestinal tract nevus under general anesthesia was planned. Read More

Pediatr Int 2016 Aug 26;58(8):740-3. Epub 2016 Apr 26.

Department of Pediatrics, National Hospital Organization, Fukuoka-Higashi Medical Center, Koga City, Fukuoka, Japan.

Blue rubber bleb nevus syndrome (BRBNS) involves cutaneous vascular malformation characterized by multiple venous malformations. This commonly affects the skin and gastrointestinal tract. BRBNS is associated with anemia and occasionally involves orthopedic manifestations. Read More

Ophthal Plast Reconstr Surg 2017 May/Jun;33(3S Suppl 1):S143-S146

Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York, U.S.A.

A 15-month-old boy with left congenital proptosis presented to the emergency department with melena. Upper GI endoscopy and magnetic resonance angiography revealed vascular lesions, consistent with gastrointestinal tract manifestations of blue rubber bleb nevus syndrome. MRI revealed vascular malformations in both orbits, with mass effect on the left side. Read More

Clin Lab 2016 ;62(1-2):241-3

Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by vascular malformations mostly involving skin and gastrointestinal tract. This disease is often associated with sideropenic anemia and occult bleeding.

Methods: We report the case of chronic severe anemia in an old patient under oral anticoagulation treatment for chronic atrial fibrillation. Read More

J Community Hosp Intern Med Perspect 2016 17;6(1):29966. Epub 2016 Feb 17.

Department of Pulmonary and Critical care Medicine, MedStar Franklin Square Hospital Center, Baltimore, MD, USA.

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. Read More

Ann Med Surg (Lond) 2016 Feb 30;5:93-6. Epub 2015 Dec 30.

Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular anomaly syndrome consisting of multifocal venous malformations (VM). The malformations are most. prominent in the skin, soft tissues and gastrointestinal (GI) tract. Read More

Gastroenterology 2016 Mar 29;150(3):568-9. Epub 2016 Jan 29.

Department of Gastrointestinal Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.

Skinmed 2015 1;13(5):406-9. Epub 2015 Oct 1.

Department of Medicine, R.G. Kar Medical College, Kolkata, West Bengal, India.

A 64-year-old, nondiabetic, nonhypertensive Indian woman was admitted to our hospital for evaluation of lethargy that had been present for the past 10 months. In addition, she had developed multiple, gradually progressive, bluish nodules scattered over the skin and mucous membranes for the preceding 15 years. There was no history of recent weight loss, vomiting of blood, passing of bloody stool, or any other external bleeding. Read More

Am J Gastroenterol 2016 Jan;111(1):24

Phoenix VA Health Care System, Phoenix, Arizona, USA.

Trop Gastroenterol 2015 Apr-Jun;36(2):125-7

Semin Pediatr Neurol 2015 Dec 12;22(4):207-33. Epub 2015 Nov 12.

Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.

Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]. Read More

Indian J Dermatol 2015 Nov-Dec;60(6):616-9

Department of Dermatology, Medical College and Hospital, Kolkata, West Bengal, India.

Blue rubber bleb nevus syndrome (BRBNS) also called Bean's syndrome is a rare disorder characterized by multiple cutaneous venous malformations in association with visceral lesions, most commonly affecting the gastrointestinal tract. We report here, a 21-year-old woman patient, who presented with unilateral, blaschkoid distribution of cutaneous venous malformations along with blue rubber bleb nevus and recurrent episodes of hematochezia due to vascular lesions in the sigmoid colon; likely to be a case of BRBNS. The unusual unilateral, blaschkoid distribution of BRBNS prompted this present report. Read More

Pediatr Dermatol 2016 Jan-Feb;33(1):e29-31. Epub 2015 Nov 26.

Department of Dermatology, University Hospital "Dr. José Eleuterio González", Universidad Autónoma de Nuevo León, Monterrey, Mexico.

The most common cause of death in blue rubber bleb nevus syndrome is gastrointestinal bleeding. Here we present a case of central nervous system bleeding that resulted in death. Read More

A A Case Rep 2016 Mar;6(6):146-9

From the Departments of *Anesthesiology and †Obstetrics/Gynecology and Reproductive Sciences, University of Maryland School of Medicine, Baltimore, Maryland.

Blue rubber bleb nevus syndrome, a syndrome of multifocal venous malformations, has been reported rarely during pregnancy. This syndrome has been associated with airway lesions in some patients and neuraxial abnormalities in other patients. We report the anesthetic and obstetric management of a patient with an extensive distribution of both airway and neuraxial lesions. Read More

Handb Clin Neurol 2015 ;132:223-30

Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.

Vascular malformations are errors of development of vessels that occur during embryogenesis. They are rheologically divided into slow-flow (capillary, lymphatic, venous and combined) and fast-flow (arterial, arteriovenous, and combined) malformations. These congenital lesions grow proportionally with the patient and never spontaneously regress. Read More

J Gastroenterol Hepatol 2016 Mar;31(3):519

Gastroenterology Department, Centro Hospitalar São João, Porto, Portugal.

Dermatol Online J 2015 Jul 15;21(7). Epub 2015 Jul 15.

Pt B.D. Sharma Post Graduate Institute of Medical Sciences, Rohtak (Haryana), India.

About 200 cases of blue rubber bleb nevus syndrome (BRBNS) have been reported in the literature. The disorder affects both sexes equally and the occurrence is mostly sporadic except for a few reports of cases with autosomal dominant inheritance pattern. Herein we report an 11-year-old girl with progressive BRBNS and onset at 5 years of age. Read More

J Pediatr Gastroenterol Nutr 2015 Oct;61(4):e16

*Department of Pediatrics, Gastroenterology, Hepatology, and Nutrition †Department of Pediatrics, Emergency Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

J Clin Diagn Res 2015 Jul 1;9(7):WD03-4. Epub 2015 Jul 1.

Professor of Pediatrics and Director, Department of Pediatrics, Indira Gandhi Institute of Child Health , Bangalore, Karnataka, India .

Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder with multiple haemangiomas in the skin, gastrointestinal tract and other visceral organs often associated with fatal bleeding and anaemia. We report a 13-year-old female child with multiple haemangiomas on skin and gastrointestinal tract with refractory anaemia. Awareness of this entity is necessary to prevent complications. Read More

Case Rep Dermatol 2015 May-Aug;7(2):194-8. Epub 2015 Jul 29.

Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

An 81-year-old Japanese man presented with dark blue papules and nodules on his face. There were multiple soft papules and nodules, dark blue in color, compressive, and ranging in size from 2 to 10 mm. A few similar lesions were seen on the patient's right dorsal second toe and right buccal mucosa. Read More

Endoscopy 2015 14;47 Suppl 1 UCTN:E372-3. Epub 2015 Aug 14.

Gastrointestinal Endoscopy, IRCCS National Cancer Institute, Milan, Italy.

Dig Endosc 2015 Nov 9;27(7):780. Epub 2015 Sep 9.

Department of Gastroenterology, Wenzhou Central Hospital, Wenzhou, China.

Pediatr Blood Cancer 2015 Nov 1;62(11):2054-5. Epub 2015 Jul 1.

Wayne State University, Detroit, Michigan.

Med Clin (Barc) 2015 Nov 23;145(10):e29. Epub 2015 Apr 23.

Servicio de Anatomía Patológica, Hospital General de Albacete, Albacete, España.

Indian J Pathol Microbiol 2015 Apr-Jun;58(2):259-60

Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Indian J Pathol Microbiol 2015 Apr-Jun;58(2):258-9

Department of Pathology, Dr. S. N. Medical College, Jodhpur, Rajasthan, India.

Pak J Med Sci 2015 Jan-Feb;31(1):226-8

Gaoping Mao, Department of Gastroenterology, General Hospital of Air Force, PLA, Beijing, China.

Blue rubber bleb nevus syndrome (BRBNS) is a rare syndrome characterized by multiple vascular malformations of varying size and appearance that present predominantly on the skin and within the gastrointestinal tract and, less often, in other internal organs. Gastrointestinal lesions of BRBNS can cause acute or chronic bleeding, and the treatment is challenging. In this case, we reported a successful treatment of vascular malformations in all segments of gastrointestinal tract, including the small intestine, by endoscopic sclerotherapy, in a 10-year-old boy with BRBNS. Read More

J Gen Intern Med 2015 Aug;30(8):1228

Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390-9047, USA,

Indian J Gastroenterol 2015 Jan;34(1):91

Department of Surgery, University College of Medical Sciences and Guru Teg Bahadur Hospital, University of Delhi, Dilshad Garden, New Delhi, 110 095, India,

Singapore Med J 2014 Nov;55(11):e175-6

Department of General Surgery, Upper Gastrointestinal Surgery Unit, Christian Medical College and Hospital, Vellore, Tamil Nadu, India, 632 004.

Blue rubber bleb nevus syndrome (BRBNS) is a rare condition characterised by venous malformations in the skin, gastrointestinal tract and other parts of the body. Its presentation is usually sporadic, although cases of autosomal dominant inheritance have been reported. Usually seen in children, BRBNS presentation in adults is rare. Read More

World J Gastrointest Endosc 2014 Dec;6(12):630-4

Mika Takasumi, Tadayuki Takagi, Masaki Sato, Rei Suzuki, Jun Nakamura, Mitsuru Sugimoto, Yuichi Waragai, Hitomi Kikuchi, Naoki Konno, Hiroshi Watanabe, Hiromasa Ohira, Department of Gastroenterology and Rheumatology, Fukushima Medical University School of Medicine, Fukushima 960-1295, Japan.

A 57-year-old woman previously diagnosed with blue rubber bleb nevus syndrome (BRBNS) reported hematemesis. BRBNS is a rare vascular anomaly syndrome consisting of multifocal hemangiomas of the skin and gastrointestinal (GI) tract but her GI tract had never been examined. An upper gastrointestinal endoscopy revealed a large bleeding esophageal hematoma positioned between the thoracic esophagus and the gastric cardia. Read More

World J Gastroenterol 2014 Dec;20(45):17254-9

Xue-Li Jin, Xi-Bin Xiao, Lian-Sheng Huang, Xiao-Ying Zhao, Department of Hematology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs. The lesions often involve the cutaneous and gastrointestinal systems. Other organs can also be involved, such as the central nervous system, liver, and muscles. Read More

Gastrointest Endosc 2015 May 1;81(5):1274-5. Epub 2014 Nov 1.

Department of Gastroenterology and Hepatology, Jinling Hospital of Southern Medical University, Nanjing, Jiangsu Province, China.

BMJ Case Rep 2014 Nov 11;2014. Epub 2014 Nov 11.

Department of Medicine, Ibn Sena Teaching Hospital, Mosul, Iraq.

We report a case in an adolescent male patient with a history of chronic fatigue, headache and unexplained iron deficiency anaemia since 2007. Numerous bluish-black lesions were found over his body surface. A surgical scar from a previous lumpectomy with a small lump were noted at the left submandibular region and another smaller lesion on the left lobe of the thyroid was also palpated. Read More