Research & Literature

Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects.

Boscolo E, Limaye N, Huang L, et al.

The Journal of clinical investigation 2015; (125(9)):3491-504.

Blue bleb rubber nevus syndrome.

Ballieux F, Boon LM, Vikkula M

Handbook of clinical neurology 2015; (132()):223-30.

Efficacy and Safety of Mammalian Target of Rapamycin Inhibitors in Vascular Anomalies: A Systematic Review.

Nadal M, Giraudeau B, Tavernier E, et al.

Acta dermato-venereologica 2016; (96(4)):448-52 doi:10.2340/00015555-2300.

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

Ocampo-Garza J, Salas-Alanís JC, Ponce-Camacho MA, et al.

Pediatric dermatology 2016; (33(1)):e29-31 doi:10.1111/pde.12718.

Response of Blue Rubber Bleb Nevus Syndrome to Sirolimus Treatment.

Salloum R, Fox CE, Alvarez-Allende CR, et al.

Pediatric blood & cancer 2016; (63(11)):1911-4 doi:10.1002/pbc.26049.

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

Soblet J, Kangas J, Nätynki M, et al.

The Journal of investigative dermatology 2017; (137(1)):207-216 doi:10.1016/j.jid.2016.07.034.

Double Jeopardy: The Rubber Ball Bounces Twice.

Arbiser JL, Gilbert LC

The Journal of investigative dermatology 2017; (137(1)):15-17 doi:10.1016/j.jid.2016.08.011.

Sirolimus Therapy Is Associated with Elevation in Circulating PCSK9 Levels in Cardiac Transplant Patients.

Simha V, Qin S, Shah P, et al.

Journal of cardiovascular translational research 2017; (10(1)):9-15 doi:10.1007/s12265-016-9719-8.

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

Wang KL, Ma SF, Pang LY, et al.

Medicine 2018; (97(8)):e9453 doi:10.1097/MD.0000000000009453.

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

Ivars M, Martin-Santiago A, Baselga E, et al.

European journal of pediatrics 2018; (177(9)):1395-1398 doi:10.1007/s00431-018-3126-x.

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

Gawlikowska-Sroka A, Glura B, Mokrzycka M, Ociepa T

Pomeranian journal of life sciences 2016; (62(2)):5-7.

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

Tang X, Gao J, Yang X, Guo X

Medicine 2018; (97(22)):e10873 doi:10.1097/MD.0000000000010873.

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

Rubio-Mateos JM, Tojo-González R, Pérez-Cuadrado-Robles E

Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society 2018; (30(6)):789 doi:10.1111/den.13224.

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

Ogu UO, Abusin G, Abu-Arja RF, Staber JM

Case reports in pediatrics 2018; (2018()):7654278 doi:10.1155/2018/7654278.

Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series.

Isoldi S, Belsha D, Yeop I, et al.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2019; (51(11)):1537-1546 doi:10.1016/j.dld.2019.04.020.

Blue Rubber Bleb Nevus Syndrome: A Surgical Dilemma.

Bazzell A, Williams S, Turner J, et al.

The American surgeon 2019; (85(9)):e492-e493.

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

Ur Rashid M, Muhammad Khan M, Ullah W, et al.

BMJ case reports 2019; (12(12)) doi:10.1136/bcr-2019-231561.

Treatment of superficial vascular anomalies with topical sirolimus: A multicenter case series.

Dodds M, Tollefson M, Castelo-Soccio L, et al.

Pediatric dermatology 2020; (37(2)):272-277 doi:10.1111/pde.14104.

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

Hu Z, Lin X, Zhong J, et al.

Medicine 2020; (99(28)):e21199 doi:10.1097/MD.0000000000021199.

Perforation following enteroscopic treatment of blue rubber bleb naevus syndrome.

Lockie E, Liyanage R, Brown G, Miller F

ANZ journal of surgery 2021; (91(4)):E208-E209 doi:10.1111/ans.16275.

AKT/FOXO1 axis links cross-talking of endothelial cell and pericyte in TIE2-mutated venous malformations.

Si Y, Huang J, Li X, et al.

Cell communication and signaling : CCS 2020; (18(1)):139 doi:10.1186/s12964-020-00606-w.

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

Campos-Murguía A, Zamora-Nava LE

Endoscopy 2021; (53(9)):E338-E339 doi:10.1055/a-1287-8987.

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

Zhou J, Zhao Z, Sun T, et al.

The American journal of gastroenterology 2021; (116(5)):1044-1052 doi:10.14309/ajg.0000000000001117.

Severe adverse events during sirolimus "off-label" therapy for vascular anomalies.

Rössler J, Baselga E, Davila V, et al.

Pediatric blood & cancer 2021; (68(8)):e28936 doi:10.1002/pbc.28936.

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

Geeurickx M, Labarque V

Journal of vascular surgery. Venous and lymphatic disorders 2021; (9(5)):1321-1333 doi:10.1016/j.jvsv.2021.03.001.

Endoscopic treatment of blue rubber bleb nevus syndrome in a 4-year-old girl with long-term follow-up: A case report.

Marakhouski K, Sharafanovich E, Kolbik U, et al.

World journal of gastrointestinal endoscopy 2021; (13(3)):90-96 doi:10.4253/wjge.v13.i3.90.

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

Lasso Andrade FA, Cadena Arteaga JA, Echeverry Morillo VL, et al.

Radiology case reports 2021; (16(8)):2003-2006 doi:10.1016/j.radcr.2021.04.086.

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.

Bell LM, Holm A, Matysiak U, et al.

Human molecular genetics 2021; (31(1)):10-17 doi:10.1093/hmg/ddab196.

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

AlNooh BM, AlQadri NG, Alghubayn M, AlAjlan SM

Case reports in dermatology 2021; (13(2)):417-421 doi:10.1159/000511535.

Bean's syndrome (blue rubber bleb nevus syndrome - BRBNS) as a gastrointestinal bleeding - case report and review of the literature.

Lenarcik M, Pachlewski J, Mróz A

Polish journal of pathology : official journal of the Polish Society of Pathologists 2021; (72(2)):190-194 doi:10.5114/pjp.2021.109524.

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

Xia H, Wu J, Huang Y

Translational pediatrics 2021; (10(11)):2960-2971 doi:10.21037/tp-21-238.

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

Reddy YK, Bayoumi M, Barnes M, et al.

Translational gastroenterology and hepatology 2022; (7()):12 doi:10.21037/tgh.2020.02.19.

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

Daviskiba S, Shuman H, Ayyash M, et al.

Case reports in women's health 2022; (34()):e00403 doi:10.1016/j.crwh.2022.e00403.

Somatic TEK variant with intraarticular venous malformation and knee hemarthrosis treated with rapamycin.

Adham S, Revencu N, Mestre S, et al.

Molecular genetics & genomic medicine 2022; (10(6)):e1931 doi:10.1002/mgg3.1931.

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

Ma JX, Xia YC, Zou LP, et al.

SAGE open medical case reports 2022; (10()):2050313X221097755 doi:10.1177/2050313X221097755.

Blue Rubber Bleb Nevus syndrome: case report from Syria.

Haddad J, Salloum R, Omar A, Badran A

Oxford medical case reports 2022; (2022(5)):omac045 doi:10.1093/omcr/omac045.

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

Duong JT, Geddis A, Carlberg K, et al.

Pediatric blood & cancer 2022; (69(11)):e29970 doi:10.1002/pbc.29970.

Endoscopic and Surgical Management of Blue Rubber Bleb Nevus Syndrome.

Suarez ZK, Castaneda D, Gonzalez A, et al.

ACG case reports journal 2022; (9(10)):e00890 doi:10.14309/crj.0000000000000890.

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

Zhai JH, Li SX, Jin G, et al.

World journal of clinical cases 2022; (10(32)):11929-11935 doi:10.12998/wjcc.v10.i32.11929.

Clinical differences in sirolimus treatment with low target levels between children and adults with vascular malformations - A nationwide trial.

Harbers VEM, Zwerink LGJM, Rongen GA, et al.

Clinical and translational science 2023; (16(5)):781-796 doi:10.1111/cts.13488.

Surgical considerations for spinal epidural hematoma evacuation in the setting of blue rubber bleb nevus syndrome in a child.

Lu VM, Luiselli GA, Parker T, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2023; (39(6)):1691-1694 doi:10.1007/s00381-023-05843-1.

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

Soni L, Prasad G

Indian journal of anaesthesia 2023; (67(2)):239-240 doi:10.4103/ija.ija_117_22.

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

Khan QA, Farkouh C, Khan A, et al.

Clinical medicine insights. Case reports 2023; (16()):11795476231173503 doi:10.1177/11795476231173503.

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

Kozai L, Nishimura Y

Scandinavian journal of gastroenterology 2023; (58(10)):1108-1114 doi:10.1080/00365521.2023.2214263.

Letter to the Editor regarding "Surgical considerations for spinal epidural hematoma evacuation in the setting of blue rubber bleb nevus syndrome in a child".

Pavanello M, Piatelli G, Barretta I

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2023; (39(9)):2265-2266 doi:10.1007/s00381-023-06034-8.

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

Ramessur R, Fadhli T, Tripathi B, et al.

Clinical and experimental dermatology 2023; (49(1)):108-110 doi:10.1093/ced/llad302.

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

Samanta A, Poddar U, Sarma MS, et al.

JPGN reports 2023; (4(4)):e344 doi:10.1097/PG9.0000000000000344.

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

Lekamalage BBW, Duncan-Were L, Llewelyn J, et al.

Cureus 2024; (16(4)):e58655 doi:10.7759/cureus.58655.

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

Popescu D, Chalon T, Boon LM, et al.

Journal of orthopaedic case reports 2024; (14(8)):48-54 doi:10.13107/jocr.2024.v14.i08.4642.

Blue rubber bleb nevus syndrome: A European multicenter cohort study.

Becq A, Bisdorff A, Riccioni ME, et al.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2025; (57(2)):603-608 doi:10.1016/j.dld.2024.10.001.

Blue rubber blister nevus syndrome: A case report.

Wang WJ, Chen PL, Shao HZ

World journal of gastrointestinal surgery 2024; (16(11)):3584-3589 doi:10.4240/wjgs.v16.i11.3584.

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

Liu L, Wang L, Hu F

Frontiers in pediatrics 2024; (12()):1488466 doi:10.3389/fped.2024.1488466.

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

Wakankar R, Dharmashaktu Y, Kumar R

Clinical nuclear medicine 2025; (50(4)):e234-e235 doi:10.1097/RLU.0000000000005627.

Efficacy and safety of high-vs low-dose sirolimus in patients with kaposiform hemangioendothelioma: A randomized clinical trial.

Zhou J, Lan Y, Qiu T, et al.

Journal of the American Academy of Dermatology 2025; (93(1)):124-131 doi:10.1016/j.jaad.2025.03.023.

Application of sirolimus in an infant presenting with a life-threatening lymphatic malformation of the head and neck: a case report.

Yu S, Guo X

Frontiers in pediatrics 2025; (13()):1587330 doi:10.3389/fped.2025.1587330.

Endothelial TIE2 Mutation Induced Contraction Deficiency of Vascular Smooth Muscle Cells via Phenotypic Transition Regulation in Venous Malformations.

Du Z, Yu F, You YH, et al.

International journal of medical sciences 2025; (22(10)):2518-2532 doi:10.7150/ijms.102700.

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

Zhu J, Liu W, Zhang Z, et al.

Hereditas 2025; (162(1)):113 doi:10.1186/s41065-025-00486-5.

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

Xing Y, Liu H, Liu H, et al.

Frontiers in genetics 2025; (16()):1516562 doi:10.3389/fgene.2025.1516562.

Efficacy and safety of sirolimus in the treatment of gastrointestinal angiodysplasias.

Sun Q, Wu JC, Chen X, et al.

World journal of gastroenterology 2025; (31(25)):105677 doi:10.3748/wjg.v31.i25.105677.

Essentials for parathyroid imaging and intervention: what radiologists need to know.

Choi HJ, Kim JH

Ultrasonography (Seoul, Korea) 2025; (44(5)):324-345 doi:10.14366/usg.25102.

Somatic TEK Mutation Identified in a Patient with Calvarial Venous Malformations.

Fan B, Dennis E, Mehta NH, et al.

Genes 2025; (16(10)) doi:10.3390/genes16101123.

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

Ochiai S, Ono H, Shimizu A, et al.

The Journal of dermatology 2026; (53(2)):314-317 doi:10.1111/1346-8138.70078.

Blue Nodules in a 2-Year-Old Female With Chronic Severe Anemia.

Ross KR, Throckmorton SK, Haley KM, et al.

International journal of dermatology 2026; (65(4)):703-705 doi:10.1111/ijd.70202.