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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.
 
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).
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.
Rectal prolapse
MedGen UID:
11151
Concept ID:
C0034888
Disease or Syndrome
Protrusion of the rectal mucous membrane through the anus.
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.
Intestinal bleeding
MedGen UID:
75632
Concept ID:
C0267373
Finding
Bleeding from the intestines.
Abnormality of the liver
MedGen UID:
893061
Concept ID:
C4021780
Finding
An abnormality of the liver.
Cerebellar medulloblastoma
MedGen UID:
870487
Concept ID:
C4024934
Neoplastic Process
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
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.
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.
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.
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.
Abnormality of the mouth
MedGen UID:
6447
Concept ID:
C0026633
Congenital Abnormality
An abnormality of the mouth.
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.

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

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
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
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

Kozai L, Nishimura Y
Scand J Gastroenterol 2023 Jul-Dec;58(10):1108-1114. Epub 2023 May 21 doi: 10.1080/00365521.2023.2214263. PMID: 37211745
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
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
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
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

Diagnosis

Ortega Larrodé A, Hurtado de Mendoza L, Mata Casado S, Palomino Donayre OH, Blas Jhon L, Farrais Villalba S, Porres Cubero JC
Rev Esp Enferm Dig 2023 Nov;115(11):671. doi: 10.17235/reed.2023.9913/2023. PMID: 37882205
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
Levin LE, Lauren CT
Semin Cutan Med Surg 2016 Sep;35(3):153-60. doi: 10.12788/j.sder.2016.054. PMID: 27607324
Kirkorian AY, Grossberg AL, Püttgen KB
Semin Cutan Med Surg 2016 Sep;35(3):128-36. doi: 10.12788/j.sder.2016.051. PMID: 27607321
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

Therapy

Kozai L, Nishimura Y
Scand J Gastroenterol 2023 Jul-Dec;58(10):1108-1114. Epub 2023 May 21 doi: 10.1080/00365521.2023.2214263. PMID: 37211745
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
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
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
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

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
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
Sangwan A, Kaur S, Jain VK, Dayal S
Dermatol Online J 2015 Jul 15;21(7) PMID: 26436974
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
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

Bakker AC, Fishman SJ, Liang MG, Al-Ibraheemi A, Kozakewich HP, Mulliken JB, Slack JC
Pediatr Dev Pathol 2024 May-Jun;27(3):228-234. Epub 2024 Mar 21 doi: 10.1177/10935266241228930. PMID: 38512910
Kozai L, Nishimura Y
Scand J Gastroenterol 2023 Jul-Dec;58(10):1108-1114. Epub 2023 May 21 doi: 10.1080/00365521.2023.2214263. PMID: 37211745
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
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
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

Recent systematic reviews

Rimondi A, Sorge A, Murino A, Nandi N, Scaramella L, Vecchi M, Tontini GE, Elli L
Dig Endosc 2024 Feb;36(2):162-171. Epub 2023 May 9 doi: 10.1111/den.14564. PMID: 37029779
Kozai L, Nishimura Y
Scand J Gastroenterol 2023 Jul-Dec;58(10):1108-1114. Epub 2023 May 21 doi: 10.1080/00365521.2023.2214263. PMID: 37211745
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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