444 results match your criteria: "Blue Rubber Bleb Nevus Syndrome"
Surgical Repair of a Giant Inferior Vena Cava Aneurysm Associated with a Congenital Vascular Anomaly: A Case Report.
Vasc Specialist Int
December 2024
Department of Vascular Surgery, University General Hospital of Evros, Democritus University of Thrace, Alexandroupolis, Greece.
Inferior vena cava aneurysms (IVCAs) are rare yet potentially lethal, especially if they are symptomatic or complicated. Among the IVCAs reported in the literature, only a few are associated with congenital vascular anomalies, including congenital IVC obstruction, tetralogy of Fallot, left-sided IVC, duplicated IVC, Ehlers-Danlos syndrome, blue rubber bleb nevus syndrome, and Klipper-Trenaunay syndrome. We present the case of an 8-cm symptomatic saccular IVCA in a patient with tetralogy of Fallot, treated successfully with surgical repair.
View Article and Find Full Text PDFBlue Rubber Bleb Nevus Syndrome Causing Small Bowel Bleeding.
Dig Dis Sci
November 2024
Internal Medicine, Ospedale San Pietro Fatebenefratelli, Rome, Italy.
A 79-year-old man with fatigue and melena was diagnosed with severe iron-deficiency anemia. Capsule endoscopy revealed submucosal vascular lesions in the jejunum and active bleeding in the ileum, consistent with Blue Rubber Bleb Nevus Syndrome (BRBNS). Exploratory laparoscopy led to the resection of a 120 cm intestinal segment, confirming the diagnosis.
View Article and Find Full Text PDFBlue rubber bleb nevus syndrome: A European multicenter cohort study.
Dig Liver Dis
October 2024
Centre for Digestive Endoscopy, Sorbonne University, Saint Antoine Hospital, APHP, Paris, France.
Article Synopsis
- Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare congenital condition characterized by vascular malformations in the skin and gastrointestinal tract, but it lacks extensive research and descriptive data.
- A multicenter study in Europe analyzed 44 BRBNS patients, revealing that the syndrome is typically diagnosed around age 12, primarily through clinical symptoms, with a significant number also experiencing gastrointestinal complications.
- The study suggests that tests for d-dimer, fibrinogen levels, and Tie2/TEK mutations should be conducted when BRBNS is suspected, as they could aid in confirming the diagnosis.
Delivery management of pregnant blue rubber bleb nevus syndrome patients: a case report and literature review.
Nagoya J Med Sci
August 2024
Department of Gynecology and Obstetrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Article Synopsis
- * A case study highlights a 36-year-old first-time mother with BRBNS who had a cesarean section using spinal anesthesia due to breech presentation, with careful pre-operation imaging done to avoid complications.
- * Managing pregnant women with BRBNS requires thorough evaluation of VMs to predict potential complications and determine the safest delivery and anesthesia options.
Blue Rubber Bleb Nevus Syndrome and Retinal Cavernous Hemangioma.
Retina
July 2024
Jules Stein Eye Institute, University of California Los Angeles, Los Angeles, United States.
Hip Dysplasia in a Context of Blue Rubber Bleb Nevus Syndrome, 5-years Follow-up after Hip Arthroplasty.
J Orthop Case Rep
August 2024
Department of Orthopaedic and Trauma Surgery, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
Article Synopsis
- Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital condition affecting blood vessels, often leading to lesions in the skin, tissues, and various organs, with limited knowledge on its orthopedic complications!* -
- A case study highlights a patient with BRBNS who experienced severe venous malformation in the hip that caused bone deformities, impacts on muscular development, and significant hip joint issues, leading to the need for total hip arthroplasty at age 18!* -
- The case illustrates how vascular malformations can cause hip dysplasia and joint instability, emphasizing the importance of tailored surgical planning for optimal outcomes in patients with BRBNS.*
Navigating a Complex Case of in a Patient with Blue Rubber Bleb Nevus Syndrome.
Eur J Case Rep Intern Med
May 2024
Department of Internal Medicine, Tower Health, Reading Hospital, West Reading, USA.
Article Synopsis
- - Blue rubber bleb nevus syndrome is a rare disorder characterized by venous malformations, with only about 200 reported cases, and is complicated by the risk of infections, as illustrated in a case study involving a 40-year-old female patient.
- - The patient, who also had asthma and bronchiectasis, experienced worsening respiratory symptoms and was found to have cavitary lung lesions, leading to the discovery of non-tuberculous mycobacterium infections.
- - Treatment for these infections is crucial due to their high mortality rate; in this case, it involved multiple antibiotics and ultimately a lung resection, marking the first report of such an infection in a patient with blue rubber bleb nevus syndrome. *
Corrigendum to "Blue Rubber Bleb Nevus Syndrome Presenting as Anemia, Hemorrhage, and Hemangiomas: A Rare Case Report".
Clin Med Insights Case Rep
May 2024
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View Article and Find Full Text PDFArticle Synopsis
- * A 68-year-old male with BRBNS experienced severe anemia and melena, resulting in several endoscopic procedures and the use of cyanoacrylate glue to manage ongoing bleeding, although complications arose.
- * The case underscores the challenges of diagnosing and treating small bowel bleeding in BRBNS and emphasizes the effectiveness of intraoperative enteroscopy and glue treatment, while also cautioning about potential complications like ischemia.
Blue Rubber Bleb Nevus Syndrome.
Mayo Clin Proc
June 2024
Department of Dermatology, Peking Union Medical College Hospital, State Key Laboratory of Complex Severe and Rare Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases, Beijing, China. Electronic address:
Blue rubber bleb nevus syndrome successfully treated with sirolimus: a report of five pediatric patients.
Int J Dermatol
November 2024
Dermatology Department, National Institute of Pediatrics, Mexico City, Mexico.
Immunohistochemical Expression of Lymphatic Endothelial Markers in Blue Rubber Bleb Nevus Syndrome.
Pediatr Dev Pathol
May 2024
Departments of Pathology, Boston Children's Hospital, Boston, MA, USA.
Article Synopsis
- * A review of 19 BRBNS histopathological specimens from 14 patients showed the presence of specific immunohistochemical markers, particularly PROX1 and D2-40.
- * Findings revealed that nearly all samples displayed PROX1 positivity, indicating lymphatic differentiation in endothelial cells, while D2-40 was less frequently found, especially in gastrointestinal lesions.
Congenital Tumors-Magnetic Resonance Imaging Findings with Focus on Rare Tumors.
Cancers (Basel)
December 2023
Department of Diagnostic Imaging, Institute of Mother and Child, 01-211 Warsaw, Poland.
Article Synopsis
- Congenital tumors are rare, and a study reviewed 839 MRI scans conducted on infants up to 3 months old, revealing that 76 tumors were diagnosed prenatally and 27 postnatally.
- The most frequently identified tumors were teratomas, particularly in the sacrococcygeal area, followed by cardiac rhabdomyomas and brain tumors associated with tuberous sclerosis.
- MRI scans are vital for accurately diagnosing these tumors, which aids in managing the pregnancy, the care of the newborn, and preparing parents psychologically for the challenges ahead.*
Endoscopic Band Ligation in Blue Rubber Bleb Nevus Syndrome: A Report of Two Children.
JPGN Rep
November 2023
Gastroentrology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Article Synopsis
- * The study reports on two children diagnosed with BRBNS, one experiencing obscure bleeding and the other with overt bleeding, both exhibiting cutaneous lesions that aided in diagnosis.
- * Successful treatments included endoscopic band ligation and nonselective beta-blockers, improving hemoglobin levels, emphasizing the need for gastroenterologists to recognize this uncommon disorder for effective diagnosis and management.
Blue rubber bleb nevus syndrome in a patient on anticoagulation: a management dilemma.
BMJ Case Rep
November 2023
Gastroenterology, Royal Perth Hospital, Perth, Western Australia, Australia.
Article Synopsis
- Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare condition that mainly affects blood vessels in the skin and digestive system but can also impact other organs.
- A unique case is presented of a patient on anticoagulation who suffered gastrointestinal bleeding without skin or other organ symptoms, highlighting the challenge of managing bleeding and clotting risks.
- The case raises concerns about BRBNS potentially being linked to an increased risk of blood clots, and discusses the possible benefits of using somatostatin analogues like lanreotide to reduce bleeding risk during anticoagulation treatment.
Blue rubber bleb nevus syndrome.
Rev Esp Enferm Dig
November 2023
Gastroenterology, Hospital Universitario Fundación Jiménez Díaz, España.
Article Synopsis
- * "Blue rubber bleb nevus syndrome" is a rare, likely hereditary condition characterized by rubbery, nodular vascular lesions that can lead to gastrointestinal bleeding, primarily affecting the skin and gastrointestinal tract.
- * A case study of a 72-year-old man highlighted how video-capsule endoscopy uncovered multiple small vascular lesions in his intestines, confirming the diagnosis of "Blue rubber bleb nevus syndrome," after standard endoscopies failed to identify the cause of his iron deficiency anemia.
Glomovenous malformation secondary to a heterozygous nonsense variant in GLMN: a clinical mimicker of blue rubber bleb naevus syndrome.
Clin Exp Dermatol
December 2023
Departments of Dermatology.
Verification of the efficacy of topical sirolimus gel for systemic rare vascular malformations: a pilot study.
J Dermatol
December 2023
Department of Dermatology, Graduate School of Medicine, Osaka University, Osaka, Japan.
Article Synopsis
- A pilot study evaluated the safety and effectiveness of a 0.2% sirolimus gel for treating venous and capillary malformations in four patients, conducted from July 2019 to January 2020.
- Sirolimus, known for treating certain vascular malformations, had unclear efficacy for venous and capillary types, with a focus on safety as the main endpoint and improvement rates as the secondary endpoint.
- Results showed no adverse events, with 50% of patients experiencing mild improvement, especially in blue rubber bleb nevus syndrome, indicating sirolimus gel may be as effective as systemic treatment for these conditions.
Letter to the Editor regarding "Surgical considerations for spinal epidural hematoma evacuation in the setting of blue rubber bleb nevus syndrome in a child".
Childs Nerv Syst
September 2023
Pediatric Surgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Clinical characteristics of blue rubber bleb nevus syndrome in adults: systematic scoping review.
Scand J Gastroenterol
November 2023
Department of Medicine, John A. Burns School of Medicine, University of Hawai'i, Honolulu, HI, USA.
Article Synopsis
- Blue rubber bleb nevus syndrome (BRBNS) is a rare condition that affects various body systems, particularly in adults, but its features and gastrointestinal issues are not well understood.
- A review of 99 articles revealed common symptoms like anemia (50.5%) and melena (26.5%), with diverse lesion locations, but most diagnoses were made clinically rather than through genetic testing.
- There's a need for more research to improve understanding and treatment of BRBNS in adults, including the potential role of sirolimus and the effectiveness of genetic testing for diagnosis.
Blue Rubber Bleb Nevus Syndrome Presenting as Anemia, Hemorrhage, and Hemangiomas: A Rare Case Report.
Clin Med Insights Case Rep
May 2023
Khyber Teaching Hospital MTI KTH, Peshawar, Pakistan.
Background: Blue Rubber Bleb Nevus syndrome (BRBNS) is a rare disorder, that results in congenital cutaneous hemangiomas of the skin and gastrointestinal tract. Although asymptomatic, the nevi present as soft, non-mobile, dark blue, compressible papules. Clinically it presents as iron deficiency anemia due to occult gastrointestinal bleeding.
View Article and Find Full Text PDFCase report: Blue rubber bleb nevus syndrome with Kasabach-Merritt phenomenon in a neonate.
Front Pediatr
April 2023
Department of Interventional Hemangioma & Vascular Surgery, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multifocal venous malformations that can affect any organ or tissue. Kasabach-Merritt phenomenon (KMP) is a serious and extremely rare complication of BRBNS. This report describes a neonate with BRBNS with KMP who was successfully diagnosed and treated with low-dose sirolimus and glucocorticoids.
View Article and Find Full Text PDFAnaesthetic challenges and management of a child of blue rubber bleb nevus syndrome (BRBNS) with pulmonary lesions.
Indian J Anaesth
February 2023
Department of Anaesthesiology, Pain Medicine and Critical Care, All India Institute of Medical Sciences, New Delhi, India.
Oral Mucosal Lesions - A Study of 369 Cases.
Indian Dermatol Online J
March 2023
Department of Skin and VD, SBKS Medical Institute and Research Centre, Waghodia, Gujarat, India.
Article Synopsis
- Diagnosing oral cavity lesions is challenging due to similar symptoms, and histopathology and immunohistochemistry help in identifying these conditions.
- A study at a tertiary care center included 369 patients with oral mucosal lesions, revealing that most cases involved males and common issues like pain and ulcers were prevalent among them.
- The most frequent diagnosis was oral lichen planus (22%), followed by oral squamous cell carcinoma (20%), and a strong correlation between clinical features and histopathological findings was noted in many cases.