O nevo em bolha de borracha azul (BRBNS) é uma doença rara de malformação vascular com lesões cutâneas e viscerais frequentemente associadas a sangramento grave e potencialmente fatal e anemia.
Introdução
O que você precisa saber de cara
O nevo em bolha de borracha azul (BRBNS) é uma doença rara de malformação vascular com lesões cutâneas e viscerais frequentemente associadas a sangramento grave e potencialmente fatal e anemia.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 26 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
Tyrosine-protein kinase that acts as a cell-surface receptor for ANGPT1, ANGPT2 and ANGPT4 and regulates angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Has anti-inflammatory effects by preventing the leakage of pro-inflammatory plasma proteins and leukocytes from blood vessels. Required for normal angiogenesis and heart development during embryogenesis. Required
Cell membraneCell junctionCell junction, focal adhesionCytoplasm, cytoskeletonSecreted
Dominantly inherited venous malformations
An error of vascular morphogenesis characterized by dilated, serpiginous channels.
Variantes genéticas (ClinVar)
156 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 4 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Nevo bolhoso esponjoso azul
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
4 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder marked by mucocutaneous telangiectasias, recurrent epistaxis, and visceral arteriovenous malformations (AVMs). Neurologic risks include brain AVMs and hemorrhagic stroke. Several rare genetic and sporadic syndromes ("HHT-like" syndromes) share overlapping vascular features, complicating diagnosis. Differentiating these conditions is essential for accurate neurovascular risk assessment. A comprehensive literature review (PubMed, Scopus, Embase, Google Scholar; 1990-2025) targeted cerebrovascular manifestations of HHT and related syndromes. Key entities included Wyburn-Mason syndrome, Cobb syndrome, Klippel-Trénaunay syndrome (KTS), neurofibromatosis type 1 (NF1), PHACE(S) syndrome, capillary malformation-AVM (CM-AVM), Parkes Weber syndrome (PWS), juvenile polyposis/HHT overlap (JP-HHT), HHT type 5 (BMP9/GDF2), PTEN hamartoma tumor syndrome (PHTS), and blue rubber bleb nevus syndrome (BRBNS). Data on gene variants, lesion types, neuroimaging, stroke risk, and neurologic outcomes were synthesized. High-flow cerebrovascular malformations similar to HHT are prominent in Wyburn-Mason syndrome, CM-AVM, and PWS, conferring a substantial hemorrhagic stroke risk. NF1 and PHACE(S) primarily feature occlusive arteriopathies linked to ischemic events. KTS, BRBNS, and PHTS predominantly show low- or mixed-flow anomalies with lower CNS hemorrhagic risk but increased thrombotic complications. JP-HHT carries added gastrointestinal cancer risk via SMAD4 variants, while HHT type 5 often presents incompletely. Genetic testing and tailored neuroimaging are critical for differentiation. Although many syndromes mimic HHT, few combine mucosal telangiectasias, high-flow AVMs, and recurrent hemorrhage. Integrating clinical, imaging, and genetic data enables precise diagnosis, risk stratification, and personalized management.
Fatal tracheostomy-site hemorrhage in blue rubber bleb nevus syndrome: case report and literature review.
Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare congenital disorder characterized by multiple venous malformations, most frequently affecting the skin and gastrointestinal tract, but occasionally involving the central nervous system and other visceral organs. Fatal outcomes are exceedingly rare and usually result from acute hemorrhage or airway compromise. This report describes a fatal case of BRBNS in a 31-year-old woman who developed uncontrollable bleeding from vascular malformations following an emergent tracheostomy performed for anaphylaxis secondary to lidocaine administration during dental treatment. Despite aggressive resuscitative measures, the patient succumbed to hemorrhagic shock. External examination revealed bluish subcutaneous lesions in the perioral region, periorbital ecchymosis, and multiple bluish, compressible subcutaneous vascular "blebs" on the right upper extremity, extending to the right hemithorax. Internally, multiple submucosal, hemorrhagic-appearing lesions were identified on the base of the tongue, hypopharynx, larynx, and aryepiglottic folds, with additional vascular malformations in the posterior mediastinum and right temporalis muscle. Histologic examination confirmed cavernous hemangiomas at the tracheostomy site. A review of the English-language literature revealed only a small number of fatal cases associated with BRBNS. This case highlights the potential for fatal airway hemorrhage in BRBNS, particularly during emergent procedures involving the upper airway. Awareness of possible laryngeal and tracheal involvement is crucial to avoid iatrogenic complications. Comprehensive autopsy remains essential to determine the cause of death, document lesion distribution, and distinguish disease-related hemorrhage from procedural injury.
High depth targeted next-generation sequencing in vascular malformations.
A vascular anomaly could be a vascular tumor or a vascular malformation. Vascular malformation is subclassified into fast-flow, including arteriovenous malformation and portwine stain, and slow-flow group comprising venous malformation, lymphatic malformation, and venolymphatic malformation. Recent data have shown that somatic mutations of genes in PIK3/AKT/mTOR and RAS/MAPK/ERK pathways are a major cause of this disorder. We conducted a gene panel testing (129 genes) with high-depth next-generation sequencing (NGS), which can detect very low-level mosaicism (~ 1%), on the tissue obtained from 26 patients in a cohort of mixed types of vascular malformation, comprising 2 fast-flow and 24 slow-flow malformations. Pathogenic/likely pathogenic (P/LP) variants were identified in 21 of 26 patients, yielding the overall diagnostic rate of 80.8%. The leading causes identified were PIK3CA (57.1%) and TEK (33.3%), especially in the slow-flow group, whereas HRAS and GNAQ were found positive in patients with fast-flow malformations. Three of 11 P/LP variants were previously unreported in vascular malformation, including those from HRAS, PIK3CA, and TEK. Most variants were detected as a solo, except for double mutations of TEK in patients with blue rubber bleb nevus syndrome (BRBNS) and a non-syndromic venous malformation. The level of mosaicism in the tissue ranged from 0.93% to 16.53%, with 60% (15/25) of the variants having ≥ 5% mosaicism. Three variant of uncertain significance of IDH1 and NACC1 were found and deserve further investigation for their pathogenic role. Data from the present study suggest the potential benefit of targeted therapy, in particular drugs in the mTOR pathway, for these patients.
A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK Gene.
Multifocal venous malformation (VM) is a rare vascular disorder characterized by multiple cutaneous and visceral venous malformations caused by somatic variants in the TEK gene, which encodes the TIE2 receptor. We report a 30-year-old man presenting with multiple subcutaneous nodules and oral lesions. MRI revealed multiple masses around the left scapula. A biopsy from a lumbar lesion showed dilated venous channels, and immunohistochemistry was positive for CD31. There was no evidence of anemia. Genetic analysis using next-generation sequencing of both skin and blood identified two somatic TEK variants, p.(Tyr897Cys) and p.(Arg918His), restricted to the lesion tissue. Bulk phasing analysis revealed that Y897C and R918H existed both as single variants and as double variants in cis. The absence of these variants in blood confirmed their somatic origin. Based on clinical and pathological findings, the patient was diagnosed with multifocal VM. Clinically, this case resembled multifocal sporadic VM; however, the genetic profile was consistent with blue rubber bleb nevus syndrome, suggesting this case may represent an intermediate phenotype between the two entities. The involvement of the PI3K/AKT/mTOR signaling pathway implies potential therapeutic benefit from mTOR inhibitors, such as sirolimus. Close follow-up is ongoing due to progressive oral involvement.
Blue Rubber Bleb Nevus Syndrome Causing Small Bowel Bleeding.
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. Figures show the resected section and vascular anomalies.
Publicações recentes
Blue Rubber Bleb Nevus Syndrome: Case-Driven Insights Into a Rare Cause of Refractory Gastrointestinal Bleeding.
Double-balloon enteroscopy-guided sclerotherapy for a rare case of blue rubber bleb nevus syndrome.
Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.
Clinical application of capsule endoscopy in children with small bowel disease in Wuhan, China.
Fatal tracheostomy-site hemorrhage in blue rubber bleb nevus syndrome: case report and literature review.
📚 EuropePMC387 artigos no totalmostrando 194
Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.
European journal of neurologyClinical application of capsule endoscopy in children with small bowel disease in Wuhan, China.
Frontiers in physiologyFatal tracheostomy-site hemorrhage in blue rubber bleb nevus syndrome: case report and literature review.
Forensic science, medicine, and pathologyP17 Distinguishing familial generalized multiple glomangiomas from blue rubber bleb naevus syndrome: a case discussion.
The British journal of dermatologyAcral Melanoma With Gastric and Duodenal Metastases Mimicking Blue-Rubber Bleb Nevus Syndrome.
The American journal of gastroenterologyA Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK Gene.
The Journal of dermatologyHigh depth targeted next-generation sequencing in vascular malformations.
Human molecular geneticsPigmented chorioretinal scar in a child with blue rubber-bleb nevus syndrome.
Eye (London, England)Multiple bluish papules and nodules in a 12-year-old child with lower gastrointestinal bleeding: a diagnostic challenge.
Dermatology online journalAuthor's Reply: Comment on "Blue rubber bleb nevus syndrome: A European multicenter cohort study".
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverLife-threatening gastrointestinal bleeding in a rare case of blue rubber bleb nevus syndrome.
World journal of emergency medicineGenetic mutation and blue rubber bleb nevus syndrome: case reports and literature review.
Frontiers in geneticsA Rare Vascular Disorder Causing Gastrointestinal Bleeding: Blue Rubber Bleb Nevus Syndrome.
Journal of gastrointestinal and liver diseases : JGLDManaging gastrointestinal involvement in cutaneomucosal venous malformation: safety and efficacy of endoscopic sclerotherapy.
HereditasVenous malformations as a rare cause of lower gastrointestinal bleeding in a young patient with Blue Rubber Bleb Nevus Syndrome.
Acta gastro-enterologica BelgicaMultiple Blue Nodules and Severe Anemia in a Child.
Pediatric dermatologyBlue rubber bleb nevus syndrome: A case report and literature review.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences99mTc-Labeled Blood Pool Scintigraphy and SPECT/CT Findings in a Rare Case of Blue Rubber Bleb Nevus Syndrome.
Clinical nuclear medicineCase Report: Combination of sirolimus and endoscopic lauromacrogol sclerotherapy in the management of blue rubber bleb nevus syndrome with gastric tract bleeding.
Frontiers in pediatricsSurgical Repair of a Giant Inferior Vena Cava Aneurysm Associated with a Congenital Vascular Anomaly: A Case Report.
Vascular specialist internationalBlue Rubber Bleb Nevus Syndrome Causing Small Bowel Bleeding.
Digestive diseases and sciencesBlue rubber bleb nevus syndrome: A European multicenter cohort study.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverDelivery management of pregnant blue rubber bleb nevus syndrome patients: a case report and literature review.
Nagoya journal of medical scienceBlue Rubber Bleb Nevus Syndrome and Retinal Cavernous Hemangioma.
Retina (Philadelphia, Pa.)Hip Dysplasia in a Context of Blue Rubber Bleb Nevus Syndrome, 5-years Follow-up after Hip Arthroplasty.
Journal of orthopaedic case reportsNavigating a Complex Case of Mycobacterium Xenopi in a Patient with Blue Rubber Bleb Nevus Syndrome.
European journal of case reports in internal medicineCorrigendum to "Blue Rubber Bleb Nevus Syndrome Presenting as Anemia, Hemorrhage, and Hemangiomas: A Rare Case Report".
Clinical medicine insights. Case reportsIntraoperative Enteroscopy: A Rare Case of Blue Rubber Bleb Nevus Syndrome and a Rare Complication of Cyanoacrylate Glue.
CureusBlue Rubber Bleb Nevus Syndrome.
Mayo Clinic proceedingsBlue rubber bleb nevus syndrome successfully treated with sirolimus: a report of five pediatric patients.
International journal of dermatologyImmunohistochemical Expression of Lymphatic Endothelial Markers in Blue Rubber Bleb Nevus Syndrome.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyCongenital Tumors-Magnetic Resonance Imaging Findings with Focus on Rare Tumors.
CancersEndoscopic Band Ligation in Blue Rubber Bleb Nevus Syndrome: A Report of Two Children.
JPGN reportsBlue rubber bleb nevus syndrome in a patient on anticoagulation: a management dilemma.
BMJ case reportsGlomovenous malformation secondary to a heterozygous nonsense variant in GLMN: a clinical mimicker of blue rubber bleb naevus syndrome.
Clinical and experimental dermatologyVerification of the efficacy of topical sirolimus gel for systemic rare vascular malformations: a pilot study.
The Journal of dermatologyClinical characteristics of blue rubber bleb nevus syndrome in adults: systematic scoping review.
Scandinavian journal of gastroenterologyBlue Rubber Bleb Nevus Syndrome Presenting as Anemia, Hemorrhage, and Hemangiomas: A Rare Case Report.
Clinical medicine insights. Case reportsCase report: Blue rubber bleb nevus syndrome with Kasabach-Merritt phenomenon in a neonate.
Frontiers in pediatricsAnaesthetic challenges and management of a child of blue rubber bleb nevus syndrome (BRBNS) with pulmonary lesions.
Indian journal of anaesthesiaOral Mucosal Lesions - A Study of 369 Cases.
Indian dermatology online journalTreatment options for gastrointestinal bleeding blue rubber bleb nevus syndrome: Systematic review.
Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy SocietySurgical considerations for spinal epidural hematoma evacuation in the setting of blue rubber bleb nevus syndrome in a child.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryBlue rubber bleb nevus syndrome and multiple glomangiomas: report of two cases highlighting the importance of the histological analysis.
Anais brasileiros de dermatologiaA Large Disabling Intramuscular Venolymphatic Malformation in Blue Rubber Bleb Nevus Syndrome with Review of Literature.
Indian dermatology online journalBlue Rubber Bleb Nevus Syndrome (BRBNS): A Rare Cause of Refractory Anemia in Children.
Children (Basel, Switzerland)Blue rubber bleb nevus syndrome complicated with disseminated intravascular coagulation and intestinal obstruction: A case report.
World journal of clinical casesEradication of angiomas by nylon loop snare ligation under total enteroscopy, in disseminated intravascular coagulation associated with blue rubber bleb nevus syndrome.
EndoscopyEndoscopic and Surgical Management of Blue Rubber Bleb Nevus Syndrome.
ACG case reports journalVascular Anomaly Syndromes in the ISSVA Classification System: Imaging Findings and Role of Interventional Radiology in Management.
Radiographics : a review publication of the Radiological Society of North America, IncIntravenous Lobular Capillary Hemangioma: A Case Report and Proposal for New Cutaneous Tender Tumor Differential Diagnosis Acronym.
CureusSirolimus for management of GI bleeding in blue rubber bleb nevus syndrome: A case series.
Pediatric blood & cancerUnderwater endoscopic mucosal resection of colon hemangiomas compatible with the blue rubber bleb nevus syndrome, following endoscopic ultrasonography.
EndoscopyTreatment of sirolimus in the pathological femoral fracture related to blue rubber bleb nevus syndrome: A case report.
MedicineSuccessful endoscopic sclerotherapy with bile duct stenting for a vascular malformation neighboring the duodenal papilla in blue rubber bleb nevus syndrome.
DEN openClipping with double-balloon endoscopy for small intestinal venous malformations in a patient with blue rubber bleb nevus syndrome.
Clinical journal of gastroenterologyA Case of Blue Rubber Bleb Nevus Syndrome With Kasabach-Merritt Syndrome and Heart Failure.
CureusClinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.
BiomedicinesBean Syndrome in a Child Treated with Sirolimus: About a Case.
Case reports in pediatricsBlue Rubber Bleb Nevus syndrome: case report from Syria.
Oxford medical case reportsSirolimus as a promising drug therapy for blue rubber bleb nevus syndrome: Two-case report.
SAGE open medical case reportsBlue Rubber Bleb Nevus Syndrome: A Rare Case of Gastrointestinal Hemorrhage Necessitating Bowel Resection.
The American surgeonCerebrospinal fluid leak in epidural venous malformations and blue rubber bleb nevus syndrome.
Journal of neurosurgery. SpineBlue Rubber Bleb Nevus Syndrome Manifesting as an Isolated Congenital Orbital Mass in a Neonate.
Ophthalmic plastic and reconstructive surgeryBlue rubber bleb nevus syndrome in a Pakistani child: A case report and regional literature review.
JPMA. The Journal of the Pakistan Medical AssociationA multidisciplinary approach to caring for a pregnant patient with blue rubber bleb nevus syndrome: A case report.
Case reports in women's healthAn unusual and challenging cause of small bowel bleeding: Isolated gastrointestinal blue rubber bleb nevus syndrome.
Translational gastroenterology and hepatologyAn Unusual Cause of Anemia: Throwing the Cat among the Pigeons.
GE Portuguese journal of gastroenterologyAn unusual cause of anemia: Bean syndrome.
Revista espanola de enfermedades digestivasBlue rubber bleb nevus syndrome: a single-center case series in 12 years.
Translational pediatricsBlue Rubber Bleb Nevus Syndrome because of 12 Years of Iron Deficiency Anemia in a Patient by Double Balloon Enteroscopy; A Case Report and Review of Literature.
Middle East journal of digestive diseasesBean's syndrome (blue rubber bleb nevus syndrome - BRBNS) as a gastrointestinal bleeding - case report and review of the literature.
Polish journal of pathology : official journal of the Polish Society of PathologistsVenous Malformations in Childhood: Clinical, Histopathological and Genetics Update.
Dermatopathology (Basel, Switzerland)Endovascular treatment of an inferior vena cava aneurysm in a patient with blue rubber bleb nevus syndrome.
Journal of vascular surgery cases and innovative techniquesBlue Rubber Bleb Nevus Syndrome Complicated by Enhanced-Fibrinolytic-Type DIC: A Case Report.
Annals of vascular diseasesSirolimus in the Management of Blue Rubber Bleb Nevus Syndrome: A Case Report and Review of the Literature.
Case reports in dermatologyAtypical Blue Rubber Bleb Nevus in an African-American Male.
Case reports in gastrointestinal medicineWhat to Look Out for in a Newborn with Multiple Papulonodular Skin Lesions at Birth.
Dermatopathology (Basel, Switzerland)Sirolimus treatment for neonate with blue rubber bleb nevus syndrome: A case report.
World journal of clinical casesBlue Rubber Bleb Nevus Syndrome in the Obstetric Patient: A Case Report of Anesthetic Implications and Management.
A&A practiceChronic Iron Deficiency Anaemia Caused by Blue Rubber Bleb Syndrome.
Journal of pediatric gastroenterology and nutritionSubconjunctival Hemorrhage in a Child with the Blue Rubber Bleb Nevus Syndrome on Treatment with Oral Propranolol.
Case reports in ophthalmologyBlue rubber bleb nevus syndrome: Presentation of a case and review of the literature.
Radiology case reportsHow to do a modified vascular malformation suture for multiple intestinal lesions in blue rubber bleb nevus syndrome without bowel resection.
ANZ journal of surgeryLaryngeal Obstruction due to Blue Rubber Bleb Nevus Syndrome.
Ear, nose, & throat journalTreatment strategies for inferior vena cava aneurysms.
Journal of vascular surgery. Venous and lymphatic disordersUnilateral clubbing-like digital thickening as a clinical manifestation of low-flow vascular malformations: a series of 13 cases.
International journal of dermatologyBlue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement.
Neurosciences (Riyadh, Saudi Arabia)A Nd:YAG laser in the treatment of vascular malformations of the skin in a patient with blue rubber bleb nevus syndrome.
Postepy dermatologii i alergologiiEndoscopic treatment of blue rubber bleb nevus syndrome in a 4-year-old girl with long-term follow-up: A case report.
World journal of gastrointestinal endoscopyA narrative review of the role of sirolimus in the treatment of congenital vascular malformations.
Journal of vascular surgery. Venous and lymphatic disordersBlue rubber bleb nevus syndrome: an unusual cause of intestinal bleeding in the elderly.
Endoscopy[Diffuse angiomatous lesions].
La Revue de medecine interneGastrointestinal: Small intestinal blue rubber bleb nevus syndrome.
Journal of gastroenterology and hepatologyEndoscopic patterns of the blebs in blue rubber bleb nevus syndrome.
Gastrointestinal endoscopyEfficacy and Safety of Sirolimus for Blue Rubber Bleb Nevus Syndrome: A Prospective Study.
The American journal of gastroenterologyLong-term sirolimus treatment in blue rubber bleb nevus syndrome: Case report and review of the literature.
Pediatric dermatologyAn endoscopic multimodal approach in a patient with blue rubber bleb nevus syndrome and acute bleeding.
EndoscopyKeystone Flap Reconstruction after Resection of a Large Paraspinal Venous Malformation in an Infant.
Plastic and reconstructive surgery. Global openManagement of visceral vascular anomalies.
Seminars in pediatric surgeryBlue rubber bleb nevus syndrome in a 10-year-old child treated with loop ligation facilitated by double-balloon enteroscopy.
VideoGIE : an official video journal of the American Society for Gastrointestinal EndoscopyIntroduction to phacomatoses (neurocutaneous disorders) in childhood.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery[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 = Chinese journal of contemporary pediatricsPerforation following enteroscopic treatment of blue rubber bleb naevus syndrome.
ANZ journal of surgerySuccessful endoscopic diagnosis and treatment of blue rubber bleb nevus syndrome.
EndoscopyBlue rubber bleb nevus syndrome with the complication of intussusception: A case report and literature review.
MedicineBlue rubber bleb nevus syndrome in a Malay girl: A case report and literature review.
International journal of surgery case reportsA 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 gastroenterologyBlue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review.
Frontiers in neurologyObscure gastrointestinal bleeding in the setting of blue rubber bleb nevus syndrome with extensive small bowel involvement.
Revista espanola de enfermedades digestivasForeign Body (Solder) and Reaction to the Foreign Body Presenting As a Cutaneous Tender Tumor: Case Report and a New Acronym to Aid in Recalling the Differential Diagnosis of Painful Skin Lesions.
CureusAnesthetic considerations for blue rubber bleb nevus syndrome: a case report.
JA clinical reportsAcquired Asymptomatic Blue Tongue: A Report of Exogenous Agent-associated Tongue Dyschromia and Review of Blue Tongue Etiologies.
CureusLow-dose sirolimus for a patient with blue rubber bleb nevus syndrome.
Pediatrics international : official journal of the Japan Pediatric SocietyBlue rubber bleb nevus: a rare cause of GI bleeding-review of management.
BMJ case reportsRare Germline GLMN Variants Identified from Blue Rubber Bleb Nevus Syndrome Might Impact mTOR Signaling.
Combinatorial chemistry & high throughput screeningBlue rubber bleb nevus syndrome of the orbit and gastrointestinal tract.
Orbit (Amsterdam, Netherlands)Postural changes revealing orbital venous malformation using ultrasound in blue rubber bleb nevus syndrome.
Orbit (Amsterdam, Netherlands)Blue Rubber Bleb Nevus Syndrome: A Surgical Dilemma.
The American surgeonDiagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverBlue rubber bleb nevus syndrome in geriatric patients.
Revista de gastroenterologia de Mexico (English)Successful management of anemia with sirolimus in blue rubber bleb nevus syndrome: case report and update.
Revista espanola de enfermedades digestivasPulmonary embolism during pregnancy in a case of blue rubber bleb nevus syndrome.
Chinese medical journalOff-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature.
Paediatric drugsEfficacy and safety of sirolimus in the treatment of blue rubber bleb naevus syndrome in paediatric patients.
Clinical and experimental dermatologyBlue rubber bleb nevus syndrome: a rare cause of abdominal pain.
ANZ journal of surgeryAngiosarcoma of the Liver: Clinicopathologic Features and Morphologic Patterns.
The American journal of surgical pathologyAn Unusual Cause of Recurrent Melena.
GastroenterologyPainful tumors of the skin: "CALM HOG FLED PEN AND GETS BACK".
Clinical, cosmetic and investigational dermatologyBlue rubber bleb nevus syndrome: endoscopic treatment with sclerotherapy during double-balloon enteroscopy in a 9-year-old boy.
EndoscopyMagnetically Controlled Capsule Endoscopy in Children: A Single-center, Retrospective Cohort Study.
Journal of pediatric gastroenterology and nutritionPhotoacoustic imaging as an innovative technique for the exploration of blue rubber bleb naevus.
The British journal of dermatologyGlomuvenous malformations in a young man.
Dermatology online journalGastrointestinal: Endoscopic injection sclerotherapy for duodenal vascular malformation in blue rubber bleb nevus syndrome.
Journal of gastroenterology and hepatologyBlue Rubber Bleb Nevus Syndrome with Long-Term Follow-Up: A Case Report and Review of the Literature.
Case reports in gastrointestinal medicineOrbital Hemangioma in Bean Syndrome: The Lure of the Red Herring.
World neurosurgerySirolimus in blue rubber bleb naevus syndrome: A systematic review.
Journal of paediatrics and child healthBlue Rubber Bleb Nevus Syndrome: A Possible Cause for Growth Retardation and Pubertal Delay.
Medical principles and practice : international journal of the Kuwait University, Health Science CentreSuccessful Management of Blue Rubber Bleb Nevus Syndrome (BRBNS) with Sirolimus.
Case reports in pediatricsSurgery for Blue Rubber Bleb Nevus Syndrome-a Case Report.
The Indian journal of surgeryEndoscopic mucosal resection by double-balloon enteroscopy can be an alternative in small bowel venous malformations.
Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy SocietyA 10-year delayed diagnosis of blue rubber bleb nevus syndrome characterized by refractory iron-deficiency anemia: A case report and literature review.
MedicineAn unusual cause of gastrointestinal bleeding in a hemodialysis patient.
Hemodialysis international. International Symposium on Home Hemodialysis[Blue rubber bleb naevus syndrome involving the pleura].
Revue des maladies respiratoiresFern-shaped patch as a hallmark of blue rubber bleb nevus syndrome in neonatal venous malformations.
European journal of pediatrics[Bean's syndrome in children: about two cases].
The Pan African medical journalNew therapies for vascular anomalies of the gastrointestinal tract.
Minerva pediatricaSirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report.
MedicineAn institution-wide algorithm for direct-stick embolization of peripheral venous malformations.
Journal of vascular surgery. Venous and lymphatic disordersA Rare Cause of Chronic Anemia and Recurrent Bowel Obstruction.
GastroenterologyNevus-like lesions on the lip and the foot.
European journal of internal medicineSirolimus Experience in Blue Rubber Bleb Nevus Syndrome.
Journal of pediatric hematology/oncologyImages in Vascular Medicine: Blue rubber bleb nevus syndrome: A rare cause of gastrointestinal bleeding and vascular anomaly in children.
Vascular medicine (London, England)Successful Endoscopic Resection of Blue Rubber Bleb Nevus Syndrome in the Stomach Using a Snare.
The American journal of gastroenterologySurgical Emergencies in Intestinal Venous Malformations.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgiePostoperative disseminated intravascular coagulation in a pregnant patient with Blue Rubber Bleb Nevus Syndrome presenting with acute intestinal obstruction: Case report and literature review.
International journal of surgery case reportsBlue Rubber Bleb Nevus Syndrome: A Delayed Diagnosis.
GE Portuguese journal of gastroenterologyBlue rubber bleb nevus syndrome: our experience and new endoscopic management.
Medicine[Blue Rubber Bleb Nevus gives up its secrets].
Annales de dermatologie et de venereologie[Negative pressure system in the treatment of enterocutaneous fistulas in the pediatric population].
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia PediatricaAn Unusual Case of Iron Deficiency and Cardiac Murmur.
GastroenterologyEndoscopic management of blue rubber bleb nevus syndrome in the colon with hemostatic clamp and snare.
EndoscopyBlue Rubber Bleb Nevus Syndrome: Promising Response To Sirolimus.
Indian pediatricsUnilateral blue rubber bleb naevus syndrome with Chiari malformation.
Clinical and experimental dermatologyDouble Jeopardy: The Rubber Ball Bounces Twice.
The Journal of investigative dermatologyBlue Rubber Bleb Nevus Syndrome Diagnosed Prenatally as an Epignathus.
The Journal of craniofacial surgeryBlue rubber bleb naevus syndrome: a rare cause of chronic occult blood loss and iron deficiency anaemia.
BMJ case reports[Blue rubber bleb nevus syndrome complicated by a ventricular septal defect: a case report].
Nan fang yi ke da xue xue bao = Journal of Southern Medical UniversityDiffuse Cavernous Hemangioma of the Colon.
Acta gastro-enterologica BelgicaFavorable Response to Sirolimus in a Child With Blue Rubber Bleb Nevus Syndrome in the Gastrointestinal Tract.
Journal of pediatric hematology/oncologyAbdominal vascular syndromes: characteristic imaging findings.
Radiologia brasileiraMultifocal vascular lesions.
Seminars in cutaneous medicine and surgeryGenetic basis for vascular anomalies.
Seminars in cutaneous medicine and surgeryBlue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
The Journal of investigative dermatologyBlue Rubber Bleb Nevus Syndrome with Musculo-skeletal Involvement and Pulmonary Stenosis.
Indian pediatricsAn atypical presentation of blue rubber bleb nevus syndrome.
Proceedings (Baylor University. Medical Center)[Anesthetic Management of a Pediatric Case of Blue Rubber Bleb Nevi Syndrome Combined with Small-intestinal Intussusception].
Masui. The Japanese journal of anesthesiologyBlue rubber bleb nevus syndrome with knee joint disorder.
Pediatrics international : official journal of the Japan Pediatric SocietyProptosis Reduction Using Sirolimus in a Child With an Orbital Vascular Malformation and Blue Rubber Bleb Nevus Syndrome.
Ophthalmic plastic and reconstructive surgeryAnemia Due to Inflammation in an Anti-Coagulated Patient with Blue Rubber Bleb Nevus Syndrome.
Clinical laboratoryBlue rubber bleb nevus syndrome: a rare presentation of late-onset anemia and lower gastrointestinal bleeding without cutaneous manifestations.
Journal of community hospital internal medicine perspectivesThe surgery for blue rubber bleb nevus syndrome.
Annals of medicine and surgery (2012)A Rare Cause of Recurrent Hematochezia.
GastroenterologyAdult-Onset Blue Rubber Bleb Nevus Syndrome.
SkinmedVascular Anomaly of Blue Rubber Bleb Nevus Syndrome.
The American journal of gastroenterology[Bean Syndrome (blue rubber bleb nevus syndrome)].
Pomeranian journal of life sciencesBlue rubber bleb nevus syndrome--Role of aggressive surgical resection.
Tropical gastroenterology : official journal of the Digestive Diseases FoundationMosaic Neurocutaneous Disorders and Their Causes.
Seminars in pediatric neurologyUnilateral, Linear Blue Rubber Bleb Nevus Syndrome (Bean's syndrome): An Unfamiliar Presentation: First Case from India.
Indian journal of dermatologyFatal Outcome from Brain Vascular Lesions in a Neonate with Blue Rubber Bleb Nevus Syndrome.
Pediatric dermatologyAnesthetic Implications of an Obstetric Patient with Blue Rubber Bleb Nevus Syndrome.
A & A case reportsBlue bleb rubber nevus syndrome.
Handbook of clinical neurology'Education and Imaging. Gastrointestinal: Successful treatment with sirolimus of a patient with blue rubber bleb nevus syndrome.
Journal of gastroenterology and hepatologyBlue rubber bleb nevus syndrome: a rare multisystem affliction.
Dermatology online journalAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.
- Fatal tracheostomy-site hemorrhage in blue rubber bleb nevus syndrome: case report and literature review.
- High depth targeted next-generation sequencing in vascular malformations.
- A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK Gene.
- Blue Rubber Bleb Nevus Syndrome Causing Small Bowel Bleeding.
- Blue Rubber Bleb Nevus Syndrome: Case-Driven Insights Into a Rare Cause of Refractory Gastrointestinal Bleeding.
- Double-balloon enteroscopy-guided sclerotherapy for a rare case of blue rubber bleb nevus syndrome.
- Clinical application of capsule endoscopy in children with small bowel disease in Wuhan, China.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1059(Orphanet)
- OMIM OMIM:112200(OMIM)
- MONDO:0007203(MONDO)
- GARD:5940(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q885574(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
