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    298 results match your criteria Blue Rubber Bleb Nevus Syndrome

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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

    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

    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

    [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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    [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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    Blue Rubber Bleb Nevus Syndrome Showing Vascular Skin Lesions Predominantly on the Face.
    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

    Enteroscopic sclerotherapy in blue rubber bleb nevus syndrome.
    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

    Blue rubber bleb nevus syndrome: a rare cause of chronic gastrointestinal bleed in adults.
    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

    Endoscopic therapy for esophageal hematoma with blue rubber bleb nevus syndrome.
    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

    Blue rubber bleb nevus syndrome: a case report and literature review.
    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

    Blue rubber bleb naevus syndrome: a rare cause of iron deficiency anaemia.
    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

    Management of visceral vascular anomalies.
    Semin Pediatr Surg 2014 Aug 15;23(4):216-20. Epub 2014 Jul 15.
    Department of Pediatric Surgery, Boston Children׳s Hospital, Harvard Medical School, Boston, Massachusetts.
    Vascular malformations affect the viscera less commonly than the head and neck, extremities, and extra-cavitary soft tissues. They present with a wide spectrum of symptoms and findings including pain, respiratory compromise, hemoptysis, chylothorax, ascites, gastrointestinal bleeding, and obstruction. Management options depend upon the subtype of malformation and anatomic extent and may include sclerotherapy, embolization, surgical extirpation, coloanal pull-through, and occasionally more innovative individualized surgical approaches. Read More

    Epidural spinal cord compression in a patient with blue rubber bleb nevus syndrome.
    J Neurosurg Pediatr 2014 Nov 19;14(5):486-9. Epub 2014 Sep 19.
    Department of Neurosurgery, Wayne State University School of Medicine, Detroit;
    Blue rubber bleb nevus syndrome (BRBNS) can present with vascular malformations throughout the body, especially in the gastrointestinal tract. Spinal cord compression from these lesions is rare, particularly in the pediatric population. The authors report a case of BRBNS involving an 18-year-old female patient who presented with back pain and an epidural thoracic mass with cord compression. Read More

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