Raras
Buscar doenças, sintomas, genes...
Nevo bolhoso esponjoso azul
ORPHA:1059CID-10 · Q27.8CID-11 · LC51OMIM 112200DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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.

Pesquisas ativas
2 ensaios
4 total registrados no ClinicalTrials.gov
Publicações científicas
468 artigos
Último publicado: 2026 Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
7.0
Worldwide
Casos conhecidos
200
pacientes catalogados
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q27.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🩸
Sangue
5 sintomas
🫃
Digestivo
4 sintomas
🧬
Pele e cabelo
2 sintomas
🦴
Ossos e articulações
2 sintomas
🫁
Pulmão
1 sintomas
❤️
Coração
1 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

90%prev.
Angiomatose visceral
Muito frequente (99-80%)
90%prev.
Erupção cutânea
Muito frequente (99-80%)
90%prev.
Malformação arteriovenosa
Muito frequente (99-80%)
90%prev.
Tempo de sangramento prolongado
Muito frequente (99-80%)
90%prev.
Hemangioma cavernoso
Muito frequente (99-80%)
90%prev.
Dor óssea
Muito frequente (99-80%)
26sintomas
Muito frequente (6)
Frequente (5)
Ocasional (2)
Sem dados (13)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 26 características clínicas mais associadas, ordenadas por frequência.

Angiomatose visceralVisceral angiomatosis
Muito frequente (99-80%)90%
Erupção cutâneaSkin rash
Muito frequente (99-80%)90%
Malformação arteriovenosaArteriovenous malformation
Muito frequente (99-80%)90%
Tempo de sangramento prolongadoProlonged bleeding time
Muito frequente (99-80%)90%
Hemangioma cavernosoCavernous hemangioma
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico468PubMed
Últimos 10 anos200publicações
Pico202129 papers
Linha do tempo
2026Hoje · 2026🧪 2007Primeiro ensaio clínico📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

TEKAngiopoietin-1 receptorDisease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneCell junctionCell junction, focal adhesionCytoplasm, cytoskeletonSecreted

VIAS BIOLÓGICAS (1)
Tie2 Signaling
MECANISMO DE DOENÇA

Dominantly inherited venous malformations

An error of vascular morphogenesis characterized by dilated, serpiginous channels.

EXPRESSÃO TECIDUAL(Ubíquo)
Pulmão
50.7 TPM
Tecido adiposo
32.6 TPM
Adipose Visceral Omentum
26.4 TPM
Mama
23.4 TPM
Tireoide
21.8 TPM
OUTRAS DOENÇAS (4)
multiple cutaneous and mucosal venous malformationsglaucoma 3, primary congenital, Eblue rubber bleb nevusglaucoma 3A
HGNC:11724UniProt:Q02763

Variantes genéticas (ClinVar)

156 variantes patogênicas registradas no ClinVar.

🧬 TEK: GRCh38/hg38 9p24.3-q21.13(chr9:208455-72054336)x3 ()
🧬 TEK: GRCh38/hg38 9p24.3-13.1(chr9:208455-38787483)x3 ()
🧬 TEK: NM_000459.5(TEK):c.2677G>C (p.Glu893Gln) ()
🧬 TEK: NM_000459.5(TEK):c.496C>A (p.Pro166Thr) ()
🧬 TEK: NM_000459.5(TEK):c.2991+122G>A ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 4 variantes classificadas pelo ClinVar.

4
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
GLMN: NM_053274.3(GLMN):c.1630G>T (p.Glu544Ter) [Pathogenic]
GLMN: NM_053274.3(GLMN):c.761C>G (p.Pro254Arg) [Conflicting classifications of pathogenicity]
TEK: NM_000459.5(TEK):c.2690A>G (p.Tyr897Cys) [Pathogenic]
TEK: NM_000459.5(TEK):c.2690A>C (p.Tyr897Ser) [Likely pathogenic]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 3 ensaios
Carregando informações de tratamento...

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

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

4 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
196 papers (10 anos)
#1

Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.

European journal of neurology2026 Feb

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.

#2

Fatal tracheostomy-site hemorrhage in blue rubber bleb nevus syndrome: case report and literature review.

Forensic science, medicine, and pathology2026 Jan 20

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.

#3

High depth targeted next-generation sequencing in vascular malformations.

Human molecular genetics2026 Feb 08

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.

#4

A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK Gene.

The Journal of dermatology2026 Feb

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.

#5

Blue Rubber Bleb Nevus Syndrome Causing Small Bowel Bleeding.

Digestive diseases and sciences2025 Jan

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

Ver todas no PubMed

📚 EuropePMC387 artigos no totalmostrando 194

2026

Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.

European journal of neurology
2025

Clinical application of capsule endoscopy in children with small bowel disease in Wuhan, China.

Frontiers in physiology
2026

Fatal tracheostomy-site hemorrhage in blue rubber bleb nevus syndrome: case report and literature review.

Forensic science, medicine, and pathology
2025

P17 Distinguishing familial generalized multiple glomangiomas from blue rubber bleb naevus syndrome: a case discussion.

The British journal of dermatology
2025

Acral Melanoma With Gastric and Duodenal Metastases Mimicking Blue-Rubber Bleb Nevus Syndrome.

The American journal of gastroenterology
2026

A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK Gene.

The Journal of dermatology
2026

High depth targeted next-generation sequencing in vascular malformations.

Human molecular genetics
2025

Pigmented chorioretinal scar in a child with blue rubber-bleb nevus syndrome.

Eye (London, England)
2025

Multiple bluish papules and nodules in a 12-year-old child with lower gastrointestinal bleeding: a diagnostic challenge.

Dermatology online journal
2025

Author'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 Liver
2025

Life-threatening gastrointestinal bleeding in a rare case of blue rubber bleb nevus syndrome.

World journal of emergency medicine
2025

Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature review.

Frontiers in genetics
2025

A Rare Vascular Disorder Causing Gastrointestinal Bleeding: Blue Rubber Bleb Nevus Syndrome.

Journal of gastrointestinal and liver diseases : JGLD
2025

Managing gastrointestinal involvement in cutaneomucosal venous malformation: safety and efficacy of endoscopic sclerotherapy.

Hereditas
2025

Venous malformations as a rare cause of lower gastrointestinal bleeding in a young patient with Blue Rubber Bleb Nevus Syndrome.

Acta gastro-enterologica Belgica
2025

Multiple Blue Nodules and Severe Anemia in a Child.

Pediatric dermatology
2024

Blue 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 sciences
2025

99mTc-Labeled Blood Pool Scintigraphy and SPECT/CT Findings in a Rare Case of Blue Rubber Bleb Nevus Syndrome.

Clinical nuclear medicine
2024

Case Report: Combination of sirolimus and endoscopic lauromacrogol sclerotherapy in the management of blue rubber bleb nevus syndrome with gastric tract bleeding.

Frontiers in pediatrics
2024

Surgical Repair of a Giant Inferior Vena Cava Aneurysm Associated with a Congenital Vascular Anomaly: A Case Report.

Vascular specialist international
2025

Blue Rubber Bleb Nevus Syndrome Causing Small Bowel Bleeding.

Digestive diseases and sciences
2025

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 Liver
2024

Delivery management of pregnant blue rubber bleb nevus syndrome patients: a case report and literature review.

Nagoya journal of medical science
2024

Blue Rubber Bleb Nevus Syndrome and Retinal Cavernous Hemangioma.

Retina (Philadelphia, Pa.)
2024

Hip Dysplasia in a Context of Blue Rubber Bleb Nevus Syndrome, 5-years Follow-up after Hip Arthroplasty.

Journal of orthopaedic case reports
2024

Navigating a Complex Case of Mycobacterium Xenopi in a Patient with Blue Rubber Bleb Nevus Syndrome.

European journal of case reports in internal medicine
2024

Corrigendum to "Blue Rubber Bleb Nevus Syndrome Presenting as Anemia, Hemorrhage, and Hemangiomas: A Rare Case Report".

Clinical medicine insights. Case reports
2024

Intraoperative Enteroscopy: A Rare Case of Blue Rubber Bleb Nevus Syndrome and a Rare Complication of Cyanoacrylate Glue.

Cureus
2024

Blue Rubber Bleb Nevus Syndrome.

Mayo Clinic proceedings
2024

Blue rubber bleb nevus syndrome successfully treated with sirolimus: a report of five pediatric patients.

International journal of dermatology
2024

Immunohistochemical 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 Society
2023

Congenital Tumors-Magnetic Resonance Imaging Findings with Focus on Rare Tumors.

Cancers
2023

Endoscopic Band Ligation in Blue Rubber Bleb Nevus Syndrome: A Report of Two Children.

JPGN reports
2023

Blue rubber bleb nevus syndrome in a patient on anticoagulation: a management dilemma.

BMJ case reports
2023

Glomovenous malformation secondary to a heterozygous nonsense variant in GLMN: a clinical mimicker of blue rubber bleb naevus syndrome.

Clinical and experimental dermatology
2023

Verification of the efficacy of topical sirolimus gel for systemic rare vascular malformations: a pilot study.

The Journal of dermatology
2023

Clinical characteristics of blue rubber bleb nevus syndrome in adults: systematic scoping review.

Scandinavian journal of gastroenterology
2023

Blue Rubber Bleb Nevus Syndrome Presenting as Anemia, Hemorrhage, and Hemangiomas: A Rare Case Report.

Clinical medicine insights. Case reports
2023

Case report: Blue rubber bleb nevus syndrome with Kasabach-Merritt phenomenon in a neonate.

Frontiers in pediatrics
2023

Anaesthetic challenges and management of a child of blue rubber bleb nevus syndrome (BRBNS) with pulmonary lesions.

Indian journal of anaesthesia
2023

Oral Mucosal Lesions - A Study of 369 Cases.

Indian dermatology online journal
2024

Treatment options for gastrointestinal bleeding blue rubber bleb nevus syndrome: Systematic review.

Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society
2023

Surgical 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 Neurosurgery
2023

Blue rubber bleb nevus syndrome and multiple glomangiomas: report of two cases highlighting the importance of the histological analysis.

Anais brasileiros de dermatologia
2023

A Large Disabling Intramuscular Venolymphatic Malformation in Blue Rubber Bleb Nevus Syndrome with Review of Literature.

Indian dermatology online journal
2022

Blue Rubber Bleb Nevus Syndrome (BRBNS): A Rare Cause of Refractory Anemia in Children.

Children (Basel, Switzerland)
2022

Blue rubber bleb nevus syndrome complicated with disseminated intravascular coagulation and intestinal obstruction: A case report.

World journal of clinical cases
2023

Eradication of angiomas by nylon loop snare ligation under total enteroscopy, in disseminated intravascular coagulation associated with blue rubber bleb nevus syndrome.

Endoscopy
2022

Endoscopic and Surgical Management of Blue Rubber Bleb Nevus Syndrome.

ACG case reports journal
2022

Vascular 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, Inc
2022

Intravenous Lobular Capillary Hemangioma: A Case Report and Proposal for New Cutaneous Tender Tumor Differential Diagnosis Acronym.

Cureus
2022

Sirolimus for management of GI bleeding in blue rubber bleb nevus syndrome: A case series.

Pediatric blood &amp; cancer
2022

Underwater endoscopic mucosal resection of colon hemangiomas compatible with the blue rubber bleb nevus syndrome, following endoscopic ultrasonography.

Endoscopy
2022

Treatment of sirolimus in the pathological femoral fracture related to blue rubber bleb nevus syndrome: A case report.

Medicine
2022

Successful endoscopic sclerotherapy with bile duct stenting for a vascular malformation neighboring the duodenal papilla in blue rubber bleb nevus syndrome.

DEN open
2022

Clipping with double-balloon endoscopy for small intestinal venous malformations in a patient with blue rubber bleb nevus syndrome.

Clinical journal of gastroenterology
2022

A Case of Blue Rubber Bleb Nevus Syndrome With Kasabach-Merritt Syndrome and Heart Failure.

Cureus
2022

Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.

Biomedicines
2022

Bean Syndrome in a Child Treated with Sirolimus: About a Case.

Case reports in pediatrics
2022

Blue Rubber Bleb Nevus syndrome: case report from Syria.

Oxford medical case reports
2022

Sirolimus as a promising drug therapy for blue rubber bleb nevus syndrome: Two-case report.

SAGE open medical case reports
2023

Blue Rubber Bleb Nevus Syndrome: A Rare Case of Gastrointestinal Hemorrhage Necessitating Bowel Resection.

The American surgeon
2022

Cerebrospinal fluid leak in epidural venous malformations and blue rubber bleb nevus syndrome.

Journal of neurosurgery. Spine
2022

Blue Rubber Bleb Nevus Syndrome Manifesting as an Isolated Congenital Orbital Mass in a Neonate.

Ophthalmic plastic and reconstructive surgery
2022

Blue rubber bleb nevus syndrome in a Pakistani child: A case report and regional literature review.

JPMA. The Journal of the Pakistan Medical Association
2022

A multidisciplinary approach to caring for a pregnant patient with blue rubber bleb nevus syndrome: A case report.

Case reports in women's health
2022

An unusual and challenging cause of small bowel bleeding: Isolated gastrointestinal blue rubber bleb nevus syndrome.

Translational gastroenterology and hepatology
2022

An Unusual Cause of Anemia: Throwing the Cat among the Pigeons.

GE Portuguese journal of gastroenterology
2022

An unusual cause of anemia: Bean syndrome.

Revista espanola de enfermedades digestivas
2021

Blue rubber bleb nevus syndrome: a single-center case series in 12 years.

Translational pediatrics
2021

Blue 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 diseases
2021

Bean'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 Pathologists
2021

Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update.

Dermatopathology (Basel, Switzerland)
2021

Endovascular treatment of an inferior vena cava aneurysm in a patient with blue rubber bleb nevus syndrome.

Journal of vascular surgery cases and innovative techniques
2021

Blue Rubber Bleb Nevus Syndrome Complicated by Enhanced-Fibrinolytic-Type DIC: A Case Report.

Annals of vascular diseases
2021

Sirolimus in the Management of Blue Rubber Bleb Nevus Syndrome: A Case Report and Review of the Literature.

Case reports in dermatology
2021

Atypical Blue Rubber Bleb Nevus in an African-American Male.

Case reports in gastrointestinal medicine
2021

What to Look Out for in a Newborn with Multiple Papulonodular Skin Lesions at Birth.

Dermatopathology (Basel, Switzerland)
2021

Sirolimus treatment for neonate with blue rubber bleb nevus syndrome: A case report.

World journal of clinical cases
2021

Blue Rubber Bleb Nevus Syndrome in the Obstetric Patient: A Case Report of Anesthetic Implications and Management.

A&amp;A practice
2021

Chronic Iron Deficiency Anaemia Caused by Blue Rubber Bleb Syndrome.

Journal of pediatric gastroenterology and nutrition
2021

Subconjunctival Hemorrhage in a Child with the Blue Rubber Bleb Nevus Syndrome on Treatment with Oral Propranolol.

Case reports in ophthalmology
2021

Blue rubber bleb nevus syndrome: Presentation of a case and review of the literature.

Radiology case reports
2021

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

ANZ journal of surgery
2023

Laryngeal Obstruction due to Blue Rubber Bleb Nevus Syndrome.

Ear, nose, &amp; throat journal
2021

Treatment strategies for inferior vena cava aneurysms.

Journal of vascular surgery. Venous and lymphatic disorders
2021

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

International journal of dermatology
2021

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

Neurosciences (Riyadh, Saudi Arabia)
2021

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 alergologii
2021

Endoscopic 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 endoscopy
2021

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

Journal of vascular surgery. Venous and lymphatic disorders
2022

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

Endoscopy
2021

[Diffuse angiomatous lesions].

La Revue de medecine interne
2021

Gastrointestinal: Small intestinal blue rubber bleb nevus syndrome.

Journal of gastroenterology and hepatology
2021

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

Gastrointestinal endoscopy
2021

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

The American journal of gastroenterology
2021

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

Pediatric dermatology
2021

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

Endoscopy
2020

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

Plastic and reconstructive surgery. Global open
2020

Management of visceral vascular anomalies.

Seminars in pediatric surgery
2020

Blue 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 Endoscopy
2020

Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2020

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

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2021

Perforation following enteroscopic treatment of blue rubber bleb naevus syndrome.

ANZ journal of surgery
2021

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

Endoscopy
2020

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

Medicine
2020

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

International journal of surgery case reports
2020

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

BMC gastroenterology
2020

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

Frontiers in neurology
2020

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

Revista espanola de enfermedades digestivas
2020

Foreign 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.

Cureus
2019

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

JA clinical reports
2019

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

Cureus
2020

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

Pediatrics international : official journal of the Japan Pediatric Society
2019

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

BMJ case reports
2019

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

Combinatorial chemistry &amp; high throughput screening
2020

Blue rubber bleb nevus syndrome of the orbit and gastrointestinal tract.

Orbit (Amsterdam, Netherlands)
2020

Postural changes revealing orbital venous malformation using ultrasound in blue rubber bleb nevus syndrome.

Orbit (Amsterdam, Netherlands)
2019

Blue Rubber Bleb Nevus Syndrome: A Surgical Dilemma.

The American surgeon
2019

Diagnosis 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 Liver
2020

Blue rubber bleb nevus syndrome in geriatric patients.

Revista de gastroenterologia de Mexico (English)
2019

Successful management of anemia with sirolimus in blue rubber bleb nevus syndrome: case report and update.

Revista espanola de enfermedades digestivas
2019

Pulmonary embolism during pregnancy in a case of blue rubber bleb nevus syndrome.

Chinese medical journal
2019

Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature.

Paediatric drugs
2020

Efficacy and safety of sirolimus in the treatment of blue rubber bleb naevus syndrome in paediatric patients.

Clinical and experimental dermatology
2020

Blue rubber bleb nevus syndrome: a rare cause of abdominal pain.

ANZ journal of surgery
2019

Angiosarcoma of the Liver: Clinicopathologic Features and Morphologic Patterns.

The American journal of surgical pathology
2019

An Unusual Cause of Recurrent Melena.

Gastroenterology
2019

Painful tumors of the skin: "CALM HOG FLED PEN AND GETS BACK".

Clinical, cosmetic and investigational dermatology
2019

Blue rubber bleb nevus syndrome: endoscopic treatment with sclerotherapy during double-balloon enteroscopy in a 9-year-old boy.

Endoscopy
2019

Magnetically Controlled Capsule Endoscopy in Children: A Single-center, Retrospective Cohort Study.

Journal of pediatric gastroenterology and nutrition
2019

Photoacoustic imaging as an innovative technique for the exploration of blue rubber bleb naevus.

The British journal of dermatology
2018

Glomuvenous malformations in a young man.

Dermatology online journal
2019

Gastrointestinal: Endoscopic injection sclerotherapy for duodenal vascular malformation in blue rubber bleb nevus syndrome.

Journal of gastroenterology and hepatology
2018

Blue Rubber Bleb Nevus Syndrome with Long-Term Follow-Up: A Case Report and Review of the Literature.

Case reports in gastrointestinal medicine
2019

Orbital Hemangioma in Bean Syndrome: The Lure of the Red Herring.

World neurosurgery
2019

Sirolimus in blue rubber bleb naevus syndrome: A systematic review.

Journal of paediatrics and child health
2019

Blue 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 Centre
2018

Successful Management of Blue Rubber Bleb Nevus Syndrome (BRBNS) with Sirolimus.

Case reports in pediatrics
2018

Surgery for Blue Rubber Bleb Nevus Syndrome-a Case Report.

The Indian journal of surgery
2018

Endoscopic mucosal resection by double-balloon enteroscopy can be an alternative in small bowel venous malformations.

Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society
2018

A 10-year delayed diagnosis of blue rubber bleb nevus syndrome characterized by refractory iron-deficiency anemia: A case report and literature review.

Medicine
2018

An unusual cause of gastrointestinal bleeding in a hemodialysis patient.

Hemodialysis international. International Symposium on Home Hemodialysis
2018

[Blue rubber bleb naevus syndrome involving the pleura].

Revue des maladies respiratoires
2018

Fern-shaped patch as a hallmark of blue rubber bleb nevus syndrome in neonatal venous malformations.

European journal of pediatrics
2017

[Bean's syndrome in children: about two cases].

The Pan African medical journal
2018

New therapies for vascular anomalies of the gastrointestinal tract.

Minerva pediatrica
2018

Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report.

Medicine
2018

An institution-wide algorithm for direct-stick embolization of peripheral venous malformations.

Journal of vascular surgery. Venous and lymphatic disorders
2018

A Rare Cause of Chronic Anemia and Recurrent Bowel Obstruction.

Gastroenterology
2018

Nevus-like lesions on the lip and the foot.

European journal of internal medicine
2018

Sirolimus Experience in Blue Rubber Bleb Nevus Syndrome.

Journal of pediatric hematology/oncology
2018

Images in Vascular Medicine: Blue rubber bleb nevus syndrome: A rare cause of gastrointestinal bleeding and vascular anomaly in children.

Vascular medicine (London, England)
2017

Successful Endoscopic Resection of Blue Rubber Bleb Nevus Syndrome in the Stomach Using a Snare.

The American journal of gastroenterology
2018

Surgical Emergencies in Intestinal Venous Malformations.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2017

Postoperative 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 reports
2017

Blue Rubber Bleb Nevus Syndrome: A Delayed Diagnosis.

GE Portuguese journal of gastroenterology
2017

Blue rubber bleb nevus syndrome: our experience and new endoscopic management.

Medicine
2017

[Blue Rubber Bleb Nevus gives up its secrets].

Annales de dermatologie et de venereologie
2016

[Negative pressure system in the treatment of enterocutaneous fistulas in the pediatric population].

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2017

An Unusual Case of Iron Deficiency and Cardiac Murmur.

Gastroenterology
2017

Endoscopic management of blue rubber bleb nevus syndrome in the colon with hemostatic clamp and snare.

Endoscopy
2017

Blue Rubber Bleb Nevus Syndrome: Promising Response To Sirolimus.

Indian pediatrics
2017

Unilateral blue rubber bleb naevus syndrome with Chiari malformation.

Clinical and experimental dermatology
2017

Double Jeopardy: The Rubber Ball Bounces Twice.

The Journal of investigative dermatology
2016

Blue Rubber Bleb Nevus Syndrome Diagnosed Prenatally as an Epignathus.

The Journal of craniofacial surgery
2016

Blue rubber bleb naevus syndrome: a rare cause of chronic occult blood loss and iron deficiency anaemia.

BMJ case reports
2016

[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 University
2016

Diffuse Cavernous Hemangioma of the Colon.

Acta gastro-enterologica Belgica
2017

Favorable Response to Sirolimus in a Child With Blue Rubber Bleb Nevus Syndrome in the Gastrointestinal Tract.

Journal of pediatric hematology/oncology
2016

Abdominal vascular syndromes: characteristic imaging findings.

Radiologia brasileira
2016

Multifocal vascular lesions.

Seminars in cutaneous medicine and surgery
2016

Genetic basis for vascular anomalies.

Seminars in cutaneous medicine and surgery
2017

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.

The Journal of investigative dermatology
2016

Blue Rubber Bleb Nevus Syndrome with Musculo-skeletal Involvement and Pulmonary Stenosis.

Indian pediatrics
2016

An atypical presentation of blue rubber bleb nevus syndrome.

Proceedings (Baylor University. Medical Center)
2016

[Anesthetic Management of a Pediatric Case of Blue Rubber Bleb Nevi Syndrome Combined with Small-intestinal Intussusception].

Masui. The Japanese journal of anesthesiology
2016

Blue rubber bleb nevus syndrome with knee joint disorder.

Pediatrics international : official journal of the Japan Pediatric Society
2017

Proptosis Reduction Using Sirolimus in a Child With an Orbital Vascular Malformation and Blue Rubber Bleb Nevus Syndrome.

Ophthalmic plastic and reconstructive surgery
2016

Anemia Due to Inflammation in an Anti-Coagulated Patient with Blue Rubber Bleb Nevus Syndrome.

Clinical laboratory
2016

Blue rubber bleb nevus syndrome: a rare presentation of late-onset anemia and lower gastrointestinal bleeding without cutaneous manifestations.

Journal of community hospital internal medicine perspectives
2016

The surgery for blue rubber bleb nevus syndrome.

Annals of medicine and surgery (2012)
2016

A Rare Cause of Recurrent Hematochezia.

Gastroenterology
2015

Adult-Onset Blue Rubber Bleb Nevus Syndrome.

Skinmed
2016

Vascular Anomaly of Blue Rubber Bleb Nevus Syndrome.

The American journal of gastroenterology
2016

[Bean Syndrome (blue rubber bleb nevus syndrome)].

Pomeranian journal of life sciences
2015

Blue rubber bleb nevus syndrome--Role of aggressive surgical resection.

Tropical gastroenterology : official journal of the Digestive Diseases Foundation
2015

Mosaic Neurocutaneous Disorders and Their Causes.

Seminars in pediatric neurology
2015

Unilateral, Linear Blue Rubber Bleb Nevus Syndrome (Bean's syndrome): An Unfamiliar Presentation: First Case from India.

Indian journal of dermatology
2016

Fatal Outcome from Brain Vascular Lesions in a Neonate with Blue Rubber Bleb Nevus Syndrome.

Pediatric dermatology
2016

Anesthetic Implications of an Obstetric Patient with Blue Rubber Bleb Nevus Syndrome.

A &amp; A case reports
2015

Blue bleb rubber nevus syndrome.

Handbook of clinical neurology
2016

'Education and Imaging. Gastrointestinal: Successful treatment with sirolimus of a patient with blue rubber bleb nevus syndrome.

Journal of gastroenterology and hepatology
2015

Blue rubber bleb nevus syndrome: a rare multisystem affliction.

Dermatology online journal
Ver todos os 387 no EuropePMC

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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.

  1. Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.
    European journal of neurology· 2026· PMID 41704211mais citado
  2. Fatal tracheostomy-site hemorrhage in blue rubber bleb nevus syndrome: case report and literature review.
    Forensic science, medicine, and pathology· 2026· PMID 41557089mais citado
  3. High depth targeted next-generation sequencing in vascular malformations.
    Human molecular genetics· 2026· PMID 41224725mais citado
  4. A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK Gene.
    The Journal of dermatology· 2026· PMID 41327934mais citado
  5. Blue Rubber Bleb Nevus Syndrome Causing Small Bowel Bleeding.
    Digestive diseases and sciences· 2025· PMID 39557791mais citado
  6. Blue Rubber Bleb Nevus Syndrome: Case-Driven Insights Into a Rare Cause of Refractory Gastrointestinal Bleeding.
    Cureus· 2026· PMID 41952941recente
  7. Double-balloon enteroscopy-guided sclerotherapy for a rare case of blue rubber bleb nevus syndrome.
    Endoscopy· 2026· PMID 41926997recente
  8. Clinical application of capsule endoscopy in children with small bowel disease in Wuhan, China.
    Front Physiol· 2025· PMID 41608744recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1059(Orphanet)
  2. OMIM OMIM:112200(OMIM)
  3. MONDO:0007203(MONDO)
  4. GARD:5940(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Nevo bolhoso esponjoso azul
Compêndio · Raras BR

Nevo bolhoso esponjoso azul

ORPHA:1059 · MONDO:0007203
Prevalência
1-9 / 100 000
Casos
200 casos conhecidos
Herança
Autosomal dominant, Not applicable
CID-10
Q27.8 · Outras malformações congênitas especificadas do sistema vascular periférico
CID-11
Ensaios
2 ativos
Início
Childhood
Prevalência
7.0 (Worldwide)
MedGen
UMLS
C0346072
EuropePMC
Wikidata
Papers 10a
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