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Int J Surg Case Rep 2020 Jun 1;72:202-206. Epub 2020 Jun 1.

Department of Surgery, Faculty of Medicine and Health Sciences, Universiti Malaysia Sabah, Sabah, Malaysia. Electronic address:

Introduction: Blue Rubber Bleb Nevus Syndrome (BRBNS) also known as Bean's Syndrome is an atypical type of vascular malformation. To date, around 200 cases have been reported world-wide. In view of its low incidence rate, clinicians might misdiagnose and under treat. Read More

BMC Gastroenterol 2020 Jun 10;20(1):182. Epub 2020 Jun 10.

Department of Gastroenterology, Yinzhou Hospital affiliated to Medical School of Ningbo University, 251 Baizhang Rd. Ningbo, Zhejiang, 315040, China.

Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disease characterized by multifocal venous malformations. It remains a considerable challenge in treating the gastrointestinal (GI) venous malformations due to multiple lesions throughout the GI tract, and the likelihood of recurrence. We report a case study of BRBNS in the GI tract, in which GI venous malformations and related GI bleeding were successfully treated with a combination of multiple endoscopic procedures. Read More

Front Neurol 2020 7;11:176. Epub 2020 Apr 7.

Department of Neurology, Instituto Nacional de Neurología y Neurocirugía "Dr. Manuel Velasco Suarez", Mexico City, Mexico.

Blue rubber bleb nevus syndrome (BRBNS), also called Bean's syndrome, is a rare disease associated with multiple venous malformations in the skin and gastrointestinal (GI) tract. Dermatological lesions, which are the first clinically visible manifestations, appear as skin-colored compressible protuberances or as dark-blue venous nodules, rubbery in consistency. Central nervous system (CNS) manifestations are rare, variable, non-specific, and tend to occur late in the disease, mainly reported as seizures and focal neurological deficits secondary to compression. Read More

Rev Esp Enferm Dig 2020 Apr;112(4):323-324

Gastroenterology, Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple vascular malformations of the gastrointestinal (GI) tract, skin and less frequently in solid organs. An 85-year-old male was admitted to the ER due to melena and was under apixaban anticoagulation. Dorsal hemangiomas were identified on physical examination. Read More

JA Clin Rep 2019 Dec 16;5(1):83. Epub 2019 Dec 16.

Department of Anesthesia, Teine Keijinkai Hospital, 1-12-1-40 Maeda, Teine, Sapporo, 006-8555, Japan.

Cureus 2019 Nov 27;11(11):e6243. Epub 2019 Nov 27.

Dermatology, San Diego Family Dermatology, San Diego, USA.

This study presents the case of a man who developed a temporary and asymptomatic blue tongue. The dyschromia occurred following topical contact with gelato that contained Food, Drug, and Cosmetic (FD&C) blue dye no. 1. Read More

Pediatr Int 2020 Jan 27;62(1):112-113. Epub 2019 Dec 27.

Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.

BMJ Case Rep 2019 Dec 16;12(12). Epub 2019 Dec 16.

Gastroenterology, AdventHealth Medical Group, Apopka, Florida, USA.

Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital vascular anomaly syndrome characterised by multifocal venous vascular malformations. It involves skin, central nervous systems, liver, muscles and gastrointestinal (GI) tract resulting in intestinal haemorrhage and anaemia. Patients with BRBNS experience severe chronic anaemia without any diagnosis requiring multiple transfusions and hospitalisations. Read More

Comb Chem High Throughput Screen 2019 ;22(10):675-682

State Key Laboratory for Medical Genetics, Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine (SITUSM) and Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai 200031, China.

Background And Objective: Blue rubber bleb nevus syndrome (BRBN) or Bean syndrome is a rare Venous Malformation (VM)-associated disorder, which mostly affects the skin and gastrointestinal tract in early childhood. Somatic mutations in TEK have been identified from BRBN patients; however, the etiology of TEK mutation-negative patients of BRBN need further investigation.

Methods: Two unrelated sporadic BRBNs and one sporadic VM were firstly screened for any rare nonsilent mutation in TEK by Sanger sequencing and subsequently applied to whole-exome sequencing to identify underlying disease causative variants. Read More

Orbit 2019 Nov 12:1-2. Epub 2019 Nov 12.

Department of Ophthalmology, Hamilton Eye Institute, University of Tennessee Health Science Center, Memphis, Tennessee, USA.

Orbit 2020 Aug 6;39(4):293-297. Epub 2019 Nov 6.

NESMOS Department, Ophthalmology Unit, S. Andrea Hospital, University of Rome "La Sapienza" , Rome, Italy.

A 62-year-old white woman presented with a diagnosis of blue rubber bleb nevus syndrome (BRBNS). The right eye appeared enophthalmic, yet the patient complained of episodes of right proptosis on bending forward. The remainder of the examination was unremarkable. Read More

Am Surg 2019 Sep;85(9):e492-e493

CMAJ 2019 07;191(30):E841

Department of Medicine, University of Saskatchewan, Saskatoon, Sask.

Dig Liver Dis 2019 11 26;51(11):1537-1546. Epub 2019 Jul 26.

Centre of Paediatric Gastroenterology, Sheffield Children's Hospital, Sheffield, United Kingdom.

Background: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare, severe, sporadically occurring disorder characterized by multiple venous malformations.

Aims: To present and analyze a case series of pediatric patients with BRBNS and to describe diagnostic approaches and management options applied.

Patients And Methods: Multicenter, retrospective study, evaluating the diagnosis and management of children with BRBNS. Read More

Rev Gastroenterol Mex 2020 Apr - Jun;85(2):215-216. Epub 2019 Jun 27.

Servicio de Endoscopia, Hospital de Especialidades, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México, CDMX, México.

Rev Esp Enferm Dig 2019 Aug;111(8):643-647

Estudiante de Medicina, Fundación Hospital de Alcorcón, España.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder with characteristic skin hemangiomas and vascular malformations, mostly in the gastrointestinal (GI) tract. The GI lesions are mainly located in the stomach and small intestine, usually more than a hundred, leading to gastrointestinal bleeding and severe chronic anemia. Parenteral iron infusions and scheduled transfusions are frequently necessary. Read More

Chin Med J (Engl) 2019 Jun;132(12):1499-1501

Department of Obstetrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong 510080, China.

Paediatr Drugs 2019 Jun;21(3):185-193

University of Trieste, Trieste, Italy.

Background: It has been 15 years since sirolimus, an mTOR inhibitor, received Food and Drug Administration approval to prevent acute rejection in kidney transplantation, and 8 years since its analog everolimus acquired the same status. Since then, these drugs have become more and more utilized and their immunosuppressive and antiproliferative properties have been tested in a great variety of clinical conditions, often achieving excellent results. Despite such positive evidence, the on-label indications for these rapalogs are still very restrictive, especially in children. Read More

Clin Exp Dermatol 2020 Jan 12;45(1):79-85. Epub 2019 Jun 12.

Department of Dermatology, Beijing Children's Hospital, Capital Medical University (National Center for Children's Health, China), Beijing, China.

Blue rubber bleb naevus syndrome (BRBNS) is an extremely rare venous malformation that often manifests as multiple haemangioma-like lesions in the skin and gastrointestinal tract. The drug sirolimus plays a key role in the signalling pathway of angiogenesis and subsequent development of BRBNS and its use has been described in several case reports. We present a case series of four patients with BRBNS who exhibited good treatment response to sirolimus. Read More

ANZ J Surg 2020 04 8;90(4):619-621. Epub 2019 May 8.

Department of General Surgery, Eastern Health, Melbourne, Victoria, Australia.

Am J Surg Pathol 2019 05;43(5):581-590

Division of Anatomic Pathology, Mayo Clinic, Rochester, MN.

Angiosarcoma is a rare malignant neoplasm of the liver. The various morphologic patterns seen with angiosarcomas of the liver have not been systematically studied and their recognition remains a major diagnostic challenge. In order to provide more comprehensive data on the morphologic patterns, angiosarcomas that had been diagnosed between 1996 and 2016 at a large medical referral center were reviewed. Read More

Gastroenterology 2019 08 11;157(2):311-312. Epub 2019 Apr 11.

Department of Gastroenterology, Qilu Hospital of Shandong University, Jinan, Shandong, China; Laboratory of Translational Gastroenterology, Qilu Hospital of Shandong University, Jinan, Shandong, China.

Endoscopy 2019 05 12;51(5):E98-E100. Epub 2019 Feb 12.

Department of Endoscopy and Gastroenterology, Pavillon L, Edouard Herriot Hospital, Lyon, France.

J Pediatr Gastroenterol Nutr 2019 07;69(1):13-17

Department of Gastroenterology, Hepatology and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Objective: Capsule endoscopy (CE) is a noninvasive diagnostic tool for the digestive tract. We aim to investigate the feasibility and safety of newly developed magnetically controlled capsule endoscopy (MCE) in children.

Methods: A total of 129 children who underwent MCE in Shanghai Children's Hospital were retrospectively recruited between March 2016 and August 2018. Read More

Dermatol Online J 2018 Oct 15;24(10). Epub 2018 Oct 15.

University of Mississippi Medical Center School of Medicine, Department of Dermatology, and Department of Pathology, Jackson, Mississippi.

A young man presented with blue nodules on the trunk, face, and extremities that gradually increased in number and size. His mother had similar lesions. Initially, blue rubber bleb nevus syndrome was suspected, but histological findings confirmed the diagnosis of hereditary glomuvenous malformations. Read More

J Gastroenterol Hepatol 2019 06 14;34(6):963. Epub 2019 Jan 14.

Division of Gastroenterology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Morioka, Japan.

Case Rep Gastrointest Med 2018 25;2018:8087659. Epub 2018 Nov 25.

Department of Pediatric Surgery, Shizuoka Children's Hospital, 860 Urushiyama, Aoi-ku, Shizuoka 420-8660, Shizuoka, Japan.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease in which venous malformations (VMs) involve any body organ, most commonly the skin and the gastrointestinal (GI) tract. Treatment of BRBNS aims at preserving the GI tract as much as possible. Although there are several dozen case reports about BRBNS that describe short-term clinical courses, a few provide an account of long-term clinical course. Read More

World Neurosurg 2019 Mar 18;123:272-280. Epub 2018 Dec 18.

Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Background: Bean syndrome (BS) is a rare congenital low-flow angiomatosis affecting multiple organ systems. About 200 cases with heterogeneous clinical presentation have been reported worldwide. The exact etiopathology is still not known. Read More

J Paediatr Child Health 2019 Feb 18;55(2):152-155. Epub 2018 Dec 18.

University of New South Wales, Sydney, New South Wales, Australia.

The aim of this study is to review sirolimus as a treatment for blue rubber bleb naevus syndrome (BRBNS). A literature search of Medline, Embase, CINAHL, SCOPUS and Google Scholar was conducted for publications reporting treatment of patients with BRBNS with sirolimus. Of 46 articles identified, 17 studies reporting 23 patients met inclusion criteria. Read More

Med Princ Pract 2019 10;28(3):294-296. Epub 2018 Dec 10.

Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Objective: The aim of this paper was to describe a rare case of blue rubber bleb nevus (BRBNS) with growth retardation and pubertal delay.

Clinical Presentation And Intervention: A 16-year-old boy with severe iron deficiency anemia was diagnosed with BRBNS, showing growth retardation and pubertal delay simultaneously. The patient was treated conservatively with intravenous iron therapy, and his puberty advanced gradually. Read More

Case Rep Pediatr 2018 8;2018:7654278. Epub 2018 Oct 8.

Division of Pediatric Hematology/Oncology, Stead Family Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease with vascular malformations in several systems of the body, most commonly the skin and gastrointestinal tract. Bleeding from the gastrointestinal (GI) tract is a major complication, which may lead to chronic iron deficiency anemia and the need for frequent blood transfusions due to ongoing gastrointestinal blood loss. In this case report, we describe a now 19-year-old female with BRBNS who required six blood transfusions per year and after starting sirolimus is symptom- and transfusion-free. Read More

Anesthesiology 2018 12;129(6):1169

From the Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, Massachusetts.

Indian J Surg 2018 Jun 19;80(3):272-274. Epub 2017 Dec 19.

Department of General Surgery ,TMCH, Thanjavur, India.

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. Read More

Dig Endosc 2018 11 30;30(6):789. Epub 2018 Jul 30.

Department of Gastroenterology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.

Medicine (Baltimore) 2018 Jun;97(22):e10873

Department of Pediatrics, West China Second University Hospital.

Rationale: Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder consisting of multifocal venous malformations. Delayed diagnosis or misdiagnosis frequently occurs in patients without typical cutaneous lesions or gastrointestinal bleeding symptoms. This article reports a 10-year case of delayed diagnosis of BRBNS detected by capsule endoscopy. Read More

Hemodial Int 2018 10 2;22(4):E60-E62. Epub 2018 Apr 2.

AURA Paris Plaisance, Paris, France.

Iron deficiency caused by gastrointestinal (GI) bleeding is a common cause of anemia in hemodialysis patient. Herein, we report the case of an 89-year-old hemodialysis patient who presented with acute anemia and melena. Endoscopy found gastritis and diverticulosis without active bleeding. Read More

Rev Mal Respir 2018 Mar 28;35(3):333-337. Epub 2018 Mar 28.

Service d'oncologie thoracique, maladies de la plèvre et pneumologie interventionnelle, hôpital Nord, chemin des Bourrely, 13015 Marseille, France; Aix-Marseille université, 13284 Marseille cedex 07, France. Electronic address:

Bean's syndrome ('blue rubber bleb nevus syndrome') is a rare disease characterized by venous malformations involving various organs. Most often these lesions are localized to the skin and the digestive system. Gastro-intestinal bleeding is the most frequent presentation. Read More

Eur J Pediatr 2018 Sep 8;177(9):1395-1398. Epub 2018 Mar 8.

Department of Pediatric Surgery, University Hospital La Paz, Madrid, Spain.

Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital vascular disease associated with important morbidity and non-insignificant risk of mortality in cases of severe gastrointestinal or neurological involvement. Early diagnosis in the neonatal period can be difficult as very often skin lesions appear progressively during childhood having no correlation with gastrointestinal lesion development. The appearance of one large venous malformation (VM) in the neonatal period has suggested a characteristic finding of this syndrome. Read More

Pan Afr Med J 2017 4;28:102. Epub 2017 Oct 4.

Service des Urgences Chirurgicales Pédiatriques, CHU Ibn Sina, Faculté de Médecine Mohammed V, Rabat, Maroc.

Diffuse angiomatosis or Bean's syndrome is a rare disease characterized by venous malformations mainly involving the skin and the digestive tract which can result in hemorrhage of variable severity. This study reports the case of two children aged 5 and 9 and a half years respectively with diffuse angiomatosis who had been treated in the Department of Emergency Paediatric Surgery over the years. The diagnosis was based on rectal bleeding and/or melenas causing severe anemia requiring regular transfusions in both patients as well as skin angiomas occurrence at the level of the limbs. Read More

Minerva Pediatr 2018 Jun 23;70(3):303-307. Epub 2018 Feb 23.

Gastrointestinal Procedures and Endoscopy Unit, Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA -

Vascular anomalies are a morphologically and biologically diverse group of vascular channel abnormalities that are often congenital but may evolve or change over time in the developing child. Classification is based on a combination of physical and biological properties and clinical behavior that differentiate primarily between tumors and malformations and includes a few provisionally unclassified lesions. Anomalies of the gastrointestinal (GI) tract may present clinically with GI bleeding, abdominal pain, high-output cardiac failure, and malabsorption. Read More

Medicine (Baltimore) 2018 Feb;97(8):e9453

Department of Pediatrics, Chinese PLA General Hospital, Beijing, China.

Rationale: Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations. The gastrointestinal bleeding and secondary iron deficiency anemia are the most common complications. There are currently no effective treatments for BRBNS. Read More

J Vasc Surg Venous Lymphat Disord 2018 05 1;6(3):351-357. Epub 2018 Feb 1.

Division of Hematology, Department of Medicine, Cancer Institute of New Jersey, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ.

Objective: No standardized therapeutic algorithm or embolic agent of choice has yet been identified for management of congenital peripheral venous malformations (VMs). Treatment options and reported outcomes therefore vary widely. Herein, we present an institution-wide algorithm for management of symptomatic congenital peripheral VMs using a single embolotherapeutic modality. Read More

Gastroenterology 2018 Feb 18;154(3):e4-e7. Epub 2018 Jan 18.

Department of Surgery, Chung Shan Medical University Hospital, Taichung, Taiwan; Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.

Eur J Intern Med 2018 07 12;53:e6-e7. Epub 2018 Jan 12.

Ege University, Faculty of Medicine, Dermatology Department, Izmir, Turkey. Electronic address:

J Pediatr Hematol Oncol 2018 03;40(2):168-169

Division of Pediatric Hematology-Oncology Cerrahpasa Faculty of Medicine Istanbul University.

Vasc Med 2018 02 6;23(1):82-83. Epub 2017 Oct 6.

2 Department of Medicine, University Hospital Centre Sisters of Charity, Zagreb, Croatia.

Am J Gastroenterol 2017 Oct;112(10):1494

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

Eur J Pediatr Surg 2018 Feb 25;28(1):101-104. Epub 2017 Sep 25.

Division of Vascular Anomalies, Pediatric Surgery, La Paz Children's Hospital, Madrid, Spain.

Background:  Venous malformations (VMs) can occur in any part of the body; however, the gastrointestinal tract is a frequent location. These are usually asymptomatic, thus, representing a challenge to diagnosis. Intestinal location of VMs can be associated with severe complications that ultimately require an emergency surgery. Read More

Int J Surg Case Rep 2017 23;39:235-238. Epub 2017 Aug 23.

Departament of Surgery, Division of Surgical Clinic III, Hospital das Clinicas of the University of Sao Paulo School of Medicine, Brazil. Electronic address:

Background: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare condition which usually manifests as multiple hemangioma-like skin and gastrointestinal lesions. The latter often present with chronic bleeding. There is no consensus regarding the optimal management of such patients. Read More