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    315 results match your criteria Blue Rubber Bleb Nevus Syndrome

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    An unusual cause of gastrointestinal bleeding in a hemodialysis patient.
    Hemodial Int 2018 Apr 2. 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
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    Fern-shaped patch as a hallmark of blue rubber bleb nevus syndrome in neonatal venous malformations.
    Eur J Pediatr 2018 Mar 8. 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
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    [Bean's syndrome in children: about two cases].
    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
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    New therapies for vascular anomalies of the GI tract.
    Minerva Pediatr 2018 Feb 23. Epub 2018 Feb 23.
    Harvard Medical School, GI Procedure and Endoscopy Unit, Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Boston, Massachusetts, 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 GI tract may present clinically with GI bleeding, abdominal pain, high-output cardiac failure, and malabsorption. Read More
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    Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report.
    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
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    An institution-wide algorithm for direct-stick embolization of peripheral venous malformations.
    J Vasc Surg Venous Lymphat Disord 2018 May 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
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    Surgical Emergencies in Intestinal Venous Malformations.
    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
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    Postoperative disseminated intravascular coagulation in a pregnant patient with Blue Rubber Bleb Nevus Syndrome presenting with acute intestinal obstruction: Case report and literature review.
    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
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    Blue rubber bleb nevus syndrome: our experience and new endoscopic management.
    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
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    Blue Rubber Bleb Nevus Syndrome: Promising Response To Sirolimus.
    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
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    Double Jeopardy: The Rubber Ball Bounces Twice.
    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
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    Blue Rubber Bleb Nevus Syndrome Diagnosed Prenatally as an Epignathus.
    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
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    Blue rubber bleb naevus syndrome: a rare cause of chronic occult blood loss and iron deficiency anaemia.
    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
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    [Blue rubber bleb nevus syndrome complicated by a ventricular septal defect: a case report].
    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
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    Diffuse Cavernous Hemangioma of the Colon.
    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
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    Favorable Response to Sirolimus in a Child With Blue Rubber Bleb Nevus Syndrome in the Gastrointestinal Tract.
    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
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    Abdominal vascular syndromes: characteristic imaging findings.
    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
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    Multifocal vascular lesions.
    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
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    Genetic basis for vascular anomalies.
    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
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    Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
    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
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    Blue Rubber Bleb Nevus Syndrome with Musculo-skeletal Involvement and Pulmonary Stenosis.
    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
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    An atypical presentation of blue rubber bleb nevus syndrome.
    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
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    Response of Blue Rubber Bleb Nevus Syndrome to Sirolimus Treatment.
    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
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    [Anesthetic Management of a Pediatric Case of Blue Rubber Bleb Nevi Syndrome Combined with Small-intestinal Intussusception].
    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
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    Blue rubber bleb nevus syndrome with knee joint disorder.
    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
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    Proptosis Reduction Using Sirolimus in a Child With an Orbital Vascular Malformation and Blue Rubber Bleb Nevus Syndrome.
    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
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    Anemia Due to Inflammation in an Anti-Coagulated Patient with Blue Rubber Bleb Nevus Syndrome.
    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
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    Blue rubber bleb nevus syndrome: a rare presentation of late-onset anemia and lower gastrointestinal bleeding without cutaneous manifestations.
    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
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    The surgery for blue rubber bleb nevus syndrome.
    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
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    Adult-Onset Blue Rubber Bleb Nevus Syndrome.
    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
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    [Bean Syndrome (blue rubber bleb nevus syndrome)].
    Pomeranian J Life Sci 2016;62(2):5-7
    The blue rubber bleb nevus syndrome or Bean syndrome is a rare disorder characterised by the presence of haemangiomas in the skin and gastrointestinal tract. These lesions are usually accompanied by chronic hypochromic anaemia resulting from gastrointestinal bleeding. The cause of this syndrome is unknown. Read More
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    Mosaic Neurocutaneous Disorders and Their Causes.
    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
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    Unilateral, Linear Blue Rubber Bleb Nevus Syndrome (Bean's syndrome): An Unfamiliar Presentation: First Case from India.
    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
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    Fatal Outcome from Brain Vascular Lesions in a Neonate with Blue Rubber Bleb Nevus Syndrome.
    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
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    Anesthetic Implications of an Obstetric Patient with Blue Rubber Bleb Nevus Syndrome.
    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
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    Blue bleb rubber nevus syndrome.
    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
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    Blue rubber bleb nevus syndrome: a rare multisystem affliction.
    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
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    Blue Rubber Bleb Nevus Syndrome in a Child.
    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
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