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Blue rubber bleb nevus(BRBNS)

MedGen UID:
83401
•Concept ID:
C0346072
•
Congenital Abnormality
Synonyms: Bean syndrome; Blue Rubber Bleb Nevus Syndrome; BRBNS
SNOMED CT: Blue rubber bleb nevus (254784002); Blue rubber bleb nevus syndrome (254784002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0007203
OMIM®: 112200
Orphanet: ORPHA1059

Definition

A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia. [from ORDO]

Clinical features

From HPO
Hemangioma
MedGen UID:
5477
•Concept ID:
C0018916
•
Neoplastic Process
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
See: Feature record | Search on this feature
Intussusception
MedGen UID:
43940
•Concept ID:
C0021933
•
Disease or Syndrome
An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.
See: Feature record | Search on this feature
Rectal prolapse
MedGen UID:
11151
•Concept ID:
C0034888
•
Disease or Syndrome
Protrusion of the rectal mucous membrane through the anus.
See: Feature record | Search on this feature
Volvulus
MedGen UID:
21892
•Concept ID:
C0042961
•
Disease or Syndrome
Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.
See: Feature record | Search on this feature
Intestinal bleeding
MedGen UID:
75632
•Concept ID:
C0267373
•
Finding
Bleeding from the intestines.
See: Feature record | Search on this feature
Abnormality of the liver
MedGen UID:
893061
•Concept ID:
C4021780
•
Finding
An abnormality of the liver.
See: Feature record | Search on this feature
Cerebellar medulloblastoma
MedGen UID:
870487
•Concept ID:
C4024934
•
Neoplastic Process
See: Feature record | Search on this feature
Thrombocytopenia
MedGen UID:
52737
•Concept ID:
C0040034
•
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
See: Feature record | Search on this feature
Iron deficiency anemia
MedGen UID:
57668
•Concept ID:
C0162316
•
Disease or Syndrome
Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.
See: Feature record | Search on this feature
Chronic disseminated intravascular coagulation
MedGen UID:
354681
•Concept ID:
C1862184
•
Disease or Syndrome
A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.
See: Feature record | Search on this feature
Pathologic fracture
MedGen UID:
42095
•Concept ID:
C0016663
•
Pathologic Function
A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
See: Feature record | Search on this feature
Abnormality of the respiratory system
MedGen UID:
866322
•Concept ID:
C4018871
•
Anatomical Abnormality
An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
See: Feature record | Search on this feature
Abnormality of the mouth
MedGen UID:
6447
•Concept ID:
C0026633
•
Congenital Abnormality
An abnormality of the mouth.
See: Feature record | Search on this feature
Hypermelanotic macule
MedGen UID:
375013
•Concept ID:
C1842774
•
Finding
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBlue rubber bleb nevus
Follow this link to review classifications for Blue rubber bleb nevus in Orphanet.

Professional guidelines

PubMed

Treatment strategies for inferior vena cava aneurysms.
Wang M, Wang H, Liao B, Peng G, Chang G
J Vasc Surg Venous Lymphat Disord 2021 Nov;9(6):1588-1596. Epub 2021 Apr 17 doi: 10.1016/j.jvsv.2021.03.017. PMID: 33872820
Response of Blue Rubber Bleb Nevus Syndrome to Sirolimus Treatment.
Salloum R, Fox CE, Alvarez-Allende CR, Hammill AM, Dasgupta R, Dickie BH, Mobberley-Schuman P, Wentzel MS, Chute C, Kaul A, Patel M, Merrow AC, Gupta A, Whitworth JR, Adams DM
Pediatr Blood Cancer 2016 Nov;63(11):1911-4. Epub 2016 Jun 8 doi: 10.1002/pbc.26049. PMID: 27273326
Management of visceral vascular anomalies.
Dasgupta R, Fishman SJ
Semin Pediatr Surg 2014 Aug;23(4):216-20. Epub 2014 Jul 15 doi: 10.1053/j.sempedsurg.2014.07.003. PMID: 25241101

Recent clinical studies

Etiology

Treatment strategies for inferior vena cava aneurysms.
Wang M, Wang H, Liao B, Peng G, Chang G
J Vasc Surg Venous Lymphat Disord 2021 Nov;9(6):1588-1596. Epub 2021 Apr 17 doi: 10.1016/j.jvsv.2021.03.017. PMID: 33872820
Efficacy and Safety of Sirolimus for Blue Rubber Bleb Nevus Syndrome: A Prospective Study.
Zhou J, Zhao Z, Sun T, Liu W, Yu Z, Liu J, Yu Y, Ning S, Zhang H
Am J Gastroenterol 2021 May 1;116(5):1044-1052. doi: 10.14309/ajg.0000000000001117. PMID: 33416235
Management of visceral vascular anomalies.
Cooke-Barber J, Dasgupta R
Semin Pediatr Surg 2020 Oct;29(5):150977. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150977. PMID: 33069283
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M
J Invest Dermatol 2017 Jan;137(1):207-216. Epub 2016 Aug 9 doi: 10.1016/j.jid.2016.07.034. PMID: 27519652
Response of Blue Rubber Bleb Nevus Syndrome to Sirolimus Treatment.
Salloum R, Fox CE, Alvarez-Allende CR, Hammill AM, Dasgupta R, Dickie BH, Mobberley-Schuman P, Wentzel MS, Chute C, Kaul A, Patel M, Merrow AC, Gupta A, Whitworth JR, Adams DM
Pediatr Blood Cancer 2016 Nov;63(11):1911-4. Epub 2016 Jun 8 doi: 10.1002/pbc.26049. PMID: 27273326

Diagnosis

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M
J Invest Dermatol 2017 Jan;137(1):207-216. Epub 2016 Aug 9 doi: 10.1016/j.jid.2016.07.034. PMID: 27519652
Multifocal vascular lesions.
Levin LE, Lauren CT
Semin Cutan Med Surg 2016 Sep;35(3):153-60. doi: 10.12788/j.sder.2016.054. PMID: 27607324
Response of Blue Rubber Bleb Nevus Syndrome to Sirolimus Treatment.
Salloum R, Fox CE, Alvarez-Allende CR, Hammill AM, Dasgupta R, Dickie BH, Mobberley-Schuman P, Wentzel MS, Chute C, Kaul A, Patel M, Merrow AC, Gupta A, Whitworth JR, Adams DM
Pediatr Blood Cancer 2016 Nov;63(11):1911-4. Epub 2016 Jun 8 doi: 10.1002/pbc.26049. PMID: 27273326
Blue bleb rubber nevus syndrome.
Ballieux F, Boon LM, Vikkula M
Handb Clin Neurol 2015;132:223-30. doi: 10.1016/B978-0-444-62702-5.00016-0. PMID: 26564083
Blue rubber bleb nevus syndrome: a case report and literature review.
Jin XL, Wang ZH, Xiao XB, Huang LS, Zhao XY
World J Gastroenterol 2014 Dec 7;20(45):17254-9. doi: 10.3748/wjg.v20.i45.17254. PMID: 25493043Free PMC Article

Therapy

Long-term sirolimus treatment in blue rubber bleb nevus syndrome: Case report and review of the literature.
Weiss D, Teichler A, Hoeger PH
Pediatr Dermatol 2021 Mar;38(2):464-468. Epub 2020 Dec 31 doi: 10.1111/pde.14506. PMID: 33382463
Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series.
Isoldi S, Belsha D, Yeop I, Uc A, Zevit N, Mamula P, Loizides AM, Tabbers M, Cameron D, Day AS, Abu-El-Haija M, Chongsrisawat V, Briars G, Lindley KJ, Koeglmeier J, Shah N, Harper J, Syed SB, Thomson M
Dig Liver Dis 2019 Nov;51(11):1537-1546. Epub 2019 Jul 26 doi: 10.1016/j.dld.2019.04.020. PMID: 31358484
Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature.
Bevacqua M, Baldo F, Pastore S, Valencic E, Tommasini A, Maestro A, Rabusin M, Arbo A, Barbi E
Paediatr Drugs 2019 Jun;21(3):185-193. doi: 10.1007/s40272-019-00337-7. PMID: 31124053
Response of Blue Rubber Bleb Nevus Syndrome to Sirolimus Treatment.
Salloum R, Fox CE, Alvarez-Allende CR, Hammill AM, Dasgupta R, Dickie BH, Mobberley-Schuman P, Wentzel MS, Chute C, Kaul A, Patel M, Merrow AC, Gupta A, Whitworth JR, Adams DM
Pediatr Blood Cancer 2016 Nov;63(11):1911-4. Epub 2016 Jun 8 doi: 10.1002/pbc.26049. PMID: 27273326
Blue rubber bleb nevus syndrome: a case report and literature review.
Jin XL, Wang ZH, Xiao XB, Huang LS, Zhao XY
World J Gastroenterol 2014 Dec 7;20(45):17254-9. doi: 10.3748/wjg.v20.i45.17254. PMID: 25493043Free PMC Article

Prognosis

Blue rubber bleb nevus syndrome with the complication of intussusception: A case report and literature review.
Hu Z, Lin X, Zhong J, He Q, Peng Q, Xiao J, Chen B, Zhang J
Medicine (Baltimore) 2020 Jul 10;99(28):e21199. doi: 10.1097/MD.0000000000021199. PMID: 32664167Free PMC Article
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M
J Invest Dermatol 2017 Jan;137(1):207-216. Epub 2016 Aug 9 doi: 10.1016/j.jid.2016.07.034. PMID: 27519652
Blue rubber bleb nevus syndrome: a rare multisystem affliction.
Sangwan A, Kaur S, Jain VK, Dayal S
Dermatol Online J 2015 Jul 15;21(7) PMID: 26436974
Blue rubber bleb nevus syndrome: a case report and literature review.
Jin XL, Wang ZH, Xiao XB, Huang LS, Zhao XY
World J Gastroenterol 2014 Dec 7;20(45):17254-9. doi: 10.3748/wjg.v20.i45.17254. PMID: 25493043Free PMC Article
Blue rubber bleb nevus syndrome coexisted with intestinal intussusception: a case report.
Wang Y, Zhao X, You X
Pan Afr Med J 2014;17:212. Epub 2014 Mar 17 doi: 10.11604/pamj.2014.17.212.3598. PMID: 25237409Free PMC Article

Clinical prediction guides

Efficacy and Safety of Sirolimus for Blue Rubber Bleb Nevus Syndrome: A Prospective Study.
Zhou J, Zhao Z, Sun T, Liu W, Yu Z, Liu J, Yu Y, Ning S, Zhang H
Am J Gastroenterol 2021 May 1;116(5):1044-1052. doi: 10.14309/ajg.0000000000001117. PMID: 33416235
Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series.
Isoldi S, Belsha D, Yeop I, Uc A, Zevit N, Mamula P, Loizides AM, Tabbers M, Cameron D, Day AS, Abu-El-Haija M, Chongsrisawat V, Briars G, Lindley KJ, Koeglmeier J, Shah N, Harper J, Syed SB, Thomson M
Dig Liver Dis 2019 Nov;51(11):1537-1546. Epub 2019 Jul 26 doi: 10.1016/j.dld.2019.04.020. PMID: 31358484
Blue Rubber Bleb Nevus Syndrome with Musculo-skeletal Involvement and Pulmonary Stenosis.
Singal A, Vohra S, Sharma R, Bhatt S
Indian Pediatr 2016 Jun 8;53(6):525-7. doi: 10.1007/s13312-016-0884-2. PMID: 27376610
Blue rubber bleb nevus syndrome: a case report and literature review.
Jin XL, Wang ZH, Xiao XB, Huang LS, Zhao XY
World J Gastroenterol 2014 Dec 7;20(45):17254-9. doi: 10.3748/wjg.v20.i45.17254. PMID: 25493043Free PMC Article
Diagnosis and treatment of blue rubber bleb nevus syndrome in children.
Deng ZH, Xu CD, Chen SN
World J Pediatr 2008 Feb;4(1):70-3. doi: 10.1007/s12519-008-0015-9. PMID: 18402258

Recent systematic reviews

Sirolimus in blue rubber bleb naevus syndrome: A systematic review.
Wong XL, Phan K, Rodríguez Bandera AI, Sebaratnam DF
J Paediatr Child Health 2019 Feb;55(2):152-155. Epub 2018 Dec 18 doi: 10.1111/jpc.14345. PMID: 30565378

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