377 results match your criteria Blue Rubber Bleb Nevus Syndrome


How to do a modified vascular malformation suture for multiple intestinal lesions in blue rubber bleb nevus syndrome without bowel resection.

ANZ J Surg 2021 Jun 14. Epub 2021 Jun 14.

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

Intestinal resection surgery for multiple intestinal vascular malformations in the blue rubber bleb nevus syndrome is traumatic and time-consuming. This study and Video S1 introduce a novel vascular malformation suture method to manage this problem without bowel resection. Read More

View Article and Full-Text PDF

Laryngeal Obstruction due to Blue Rubber Bleb Nevus Syndrome.

Ear Nose Throat J 2021 Apr 28:1455613211013078. Epub 2021 Apr 28.

Department of Oral and Maxillofacial Sciences, 9311Sapienza University of Rome, Roma, Italy.

View Article and Full-Text PDF

Treatment strategies for inferior vena cava aneurysms.

J Vasc Surg Venous Lymphat Disord 2021 Apr 17. Epub 2021 Apr 17.

Department of Vascular Surgery, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China. Electronic address:

Objective: An inferior vena cava (IVC) aneurysm is a rare but potentially life-threatening entity. We successfully embolized an IVC aneurysm in a patient with history of blue rubber bleb nevus syndrome, a rare syndrome with multiple venous malformations. This new case was added to a literature review of previously reported cases, to analyze the management algorithm. Read More

View Article and Full-Text PDF

Unilateral clubbing-like digital thickening as a clinical manifestation of low-flow vascular malformations: a series of 13 cases.

Int J Dermatol 2021 Apr 13. Epub 2021 Apr 13.

Department of Dermatology, Hospital Universitario Virgen del Rocio, Sevilla, Spain.

Background: Digital clubbing is a well-known clinical sign characterized by thickening of the distal phalanges of the fingers and toes. Unilateral clubbing occurs less frequently. A previous report showed for the first time two cases of unilateral clubbing as a clinical manifestation of lower limb venous malformation. Read More

View Article and Full-Text PDF

Blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement.

Neurosciences (Riyadh) 2021 Apr;26(2):207-211

From the Department of Neuroscience, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder that is characterized by multiple dome-shaped cutaneous venous malformations on the skin and visceral organs. Typical extra-cutaneous lesions have the appearance of blueish nipple-shaped nodules that can easily compress and refill. We described a rare case of a 23-year-old female with BRBNS and tuberous sclerosis complex (TSC) that presented with central nervous system (CNS) involvement including unprovoked focal impaired awareness seizure. Read More

View Article and Full-Text PDF

Endoscopic treatment of blue rubber bleb nevus syndrome in a 4-year-old girl with long-term follow-up: A case report.

World J Gastrointest Endosc 2021 Mar;13(3):90-96

Department of Pediatric Surgery, Republican Scientific and Practical Center of Pediatric Surgery, Minsk 220013, Belarus.

Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disease, difficult to diagnose and choose a treatment method, especially in young children. There are several limiting factors to the use of enteroscopy for diagnostics and treatment in pediatric patients, in general. The literature on BRBNS cases is limited and presents various therapeutic approaches. Read More

View Article and Full-Text PDF

A narrative review of the role of sirolimus in the treatment of congenital vascular malformations.

J Vasc Surg Venous Lymphat Disord 2021 Mar 15. Epub 2021 Mar 15.

Department of Pediatric Hemato-Oncology, University Hospitals Leuven, Leuven, Belgium; Catholic University Leuven, Center for Molecular and Vascular Biology, Leuven, Belgium. Electronic address:

Objective: Vascular malformations arise from defects in the morphologic development of the vascular system and can have an impact on quality of life and/or lead to severe complications. To date, vascular malformations are frequently managed by invasive techniques, after which recurrence is common. Sirolimus, a downstream inhibitor of the phosphatidylinositol 3 kinase/AKT pathway and best known for its immunosuppressive effect, has been used off-label for lesions for which approved therapies were associated with unsatisfactory results or recurrence. Read More

View Article and Full-Text PDF

Blue rubber bleb nevus syndrome: an unusual cause of intestinal bleeding in the elderly.

Endoscopy 2021 Mar 5. Epub 2021 Mar 5.

Department of Digestive Surgery, Aix Marseille Université, APHM, Timone University Hospital, Marseille, France.

View Article and Full-Text PDF

[Diffuse angiomatous lesions].

Rev Med Interne 2021 Mar 1. Epub 2021 Mar 1.

Service de dermatologie et vénérologie, CHU Ibn Rochd Casablanca, Maroc.

View Article and Full-Text PDF

Gastrointestinal: Small intestinal blue rubber bleb nevus syndrome.

J Gastroenterol Hepatol 2021 Feb 18. Epub 2021 Feb 18.

Department of Gastroenterology, Macquarie University Hospital, Sydney, New South Wales, Australia.

View Article and Full-Text PDF
February 2021

Endoscopic patterns of the blebs in blue rubber bleb nevus syndrome.

Gastrointest Endosc 2021 05 6;93(5):1181-1182. Epub 2021 Jan 6.

Division of Gastroenterology and Hepatology, Department of Internal Medicine, Baylor College of Medicine, Houston, Texas, USA.

View Article and Full-Text PDF

Efficacy and Safety of Sirolimus for Blue Rubber Bleb Nevus Syndrome: A Prospective Study.

Am J Gastroenterol 2021 05;116(5):1044-1052

State Key Laboratory of Medical Molecular Biology, Department of Physiology, Institute of Basic Medical Sciences and School of Basic Medicine, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

Introduction: Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic venous malformation (VM) disease. The characteristic gastrointestinal (GI) bleeding from multiple VM lesions causes severe chronic anemia which renders most patients depend on lifelong blood transfusion and frequent endoscopic treatment with dismayed outcomes. Although recent case reports suggest that oral sirolimus (rapamycin) is effective, a comprehensive evaluation of its efficacy and safety is in need. Read More

View Article and Full-Text PDF

Long-term sirolimus treatment in blue rubber bleb nevus syndrome: Case report and review of the literature.

Pediatr Dermatol 2021 Mar 31;38(2):464-468. Epub 2020 Dec 31.

Department of Paediatric Dermatology, Catholic Children's Hospital Wilhelmstift, Hamburg, Germany.

Blue rubber bleb nevus syndrome is a rare vascular syndrome characterized by continuous eruption of vascular nodules in the skin, mucous membranes, and solid organs due to somatic activating mutations of the angiopoietin receptor TEK gene. It may be complicated by acute life-threatening hemorrhage and localized intravascular coagulation. We report an 11-year-old girl with complicated blue rubber bleb nevus syndrome treated with sirolimus since the age of 2. Read More

View Article and Full-Text PDF

An endoscopic multimodal approach in a patient with blue rubber bleb nevus syndrome and acute bleeding.

Endoscopy 2020 Nov 11. Epub 2020 Nov 11.

Department of Gastrointestinal Endoscopy, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

View Article and Full-Text PDF
November 2020

Keystone Flap Reconstruction after Resection of a Large Paraspinal Venous Malformation in an Infant.

Plast Reconstr Surg Glob Open 2020 Oct 27;8(10):e3141. Epub 2020 Oct 27.

Division of Plastic & Craniofacial Surgery, Department of Surgery, Nemours Children's Hospital, Orlando, Fla.

The keystone flap is well known to plastic surgeons and is frequently utilized for its ease of implementation, limited donor site morbidity, and favorable aesthetic outcomes. Although keystone flaps have been described in reconstruction of myelomeningocele defects, there have been no reports of their application to infants with large vascular malformations. This case illustrates the utilization of a keystone flap in reconstruction of a large posterior trunk defect that resulted from excision of a massive venous malformation in an 8-week-old infant with blue rubber bleb nevus syndrome. Read More

View Article and Full-Text PDF
October 2020

Blue rubber bleb nevus syndrome in a 10-year-old child treated with loop ligation facilitated by double-balloon enteroscopy.

VideoGIE 2020 Sep 24;5(9):412-414. Epub 2020 Jun 24.

Royal Free Unit for Endoscopy, The Royal Free Hospital and University College London (UCL) Institute for Liver and Digestive Health, London, United Kingdom.

View Article and Full-Text PDF
September 2020

Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Childs Nerv Syst 2020 10 17;36(10):2229-2268. Epub 2020 Sep 17.

Pediatric Neurosurgery, International Neuroscience Institute [INI], Hanover, Germany.

The Dutch ophthalmologist, Jan van der Hoeve, first introduced the terms phakoma/phakomata (from the old Greek word "ϕαχοσ" = lentil, spot, lens-shaped) to define similar retinal lesions recorded in tuberous sclerosis (1920) and in neurofibromatosis (1923). He later applied this concept: (a) to similar lesions in other organs (e.g. Read More

View Article and Full-Text PDF
October 2020

[Clinical effect of sirolimus in treatment of blue rubber bleb nevus syndrome in children: a report of 2 cases and literature review].

Zhongguo Dang Dai Er Ke Za Zhi 2020 Sep;22(9):1011-1016

Department of Pediatrics, Ruijin Hospital North, Shanghai Jiao Tong University, School of Medicine, Shanghai 201821, China.

To study the clinical effect of oral sirolimus in the treatment of children with blue rubber bleb nevus syndrome (BRBNS) in the gastrointestinal tract, a retrospective analysis was performed on the clinical data and follow-up results of two children with BRBNS treated by sirolimus. The two children with BRBNS had gastrointestinal bleeding and anemia and were treated with sirolimus at a dose of 1 mg/day as part of treatment. The plasma concentration of the drug was maintained between 2. Read More

View Article and Full-Text PDF
September 2020

Perforation following enteroscopic treatment of blue rubber bleb naevus syndrome.

ANZ J Surg 2021 04 26;91(4):E208-E209. Epub 2020 Aug 26.

Department of General Surgery, Northeast Health Wangaratta, Wangaratta, Victoria, Australia.

View Article and Full-Text PDF

Successful endoscopic diagnosis and treatment of blue rubber bleb nevus syndrome.

Endoscopy 2021 Apr 24;53(4):E118-E119. Epub 2020 Jul 24.

Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China.

View Article and Full-Text PDF

Blue rubber bleb nevus syndrome with the complication of intussusception: A case report and literature review.

Medicine (Baltimore) 2020 Jul;99(28):e21199

Department of General Surgery, The First Affiliated Hospital of Gannan Medical University, Ganzhou, Jiangxi Province, China.

Rationale: Blue rubber bleb nevus syndrome (BRBNS) is an extremely rare disorder characterized by multifocal venous malformations involving various organs such as the skin and gastrointestinal tract. Severe complications of BRBNS, such as intussusception, volvulus, and intestinal infarction are rarer and require surgery. This report describes a 33-year-old male of BRBNS complicated with intussusception that was successfully diagnosed and treated with surgery. Read More

View Article and Full-Text PDF

Blue rubber bleb nevus syndrome in a Malay girl: A case report and literature review.

Int J Surg Case Rep 2020 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

View Article and Full-Text PDF

A combination of single-balloon enteroscopy-assisted laparoscopy and endoscopic mucosal resection for treating gastrointestinal venous malformations in blue rubber bleb nevus syndrome: a case report.

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

View Article and Full-Text PDF

Blue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review.

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

View Article and Full-Text PDF

Obscure gastrointestinal bleeding in the setting of blue rubber bleb nevus syndrome with extensive small bowel involvement.

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

View Article and Full-Text PDF

Anesthetic considerations for blue rubber bleb nevus syndrome: a case report.

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.

View Article and Full-Text PDF
December 2019

Acquired Asymptomatic Blue Tongue: A Report of Exogenous Agent-associated Tongue Dyschromia and Review of Blue Tongue Etiologies.

Authors:
Philip R Cohen

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

View Article and Full-Text PDF
November 2019

Low-dose sirolimus for a patient with blue rubber bleb nevus syndrome.

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

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

View Article and Full-Text PDF
January 2020

Blue rubber bleb nevus: a rare cause of GI bleeding-review of management.

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

View Article and Full-Text PDF
December 2019

Rare Germline Variants Identified from Blue Rubber Bleb Nevus Syndrome Might Impact mTOR Signaling.

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

View Article and Full-Text PDF
September 2020