Blue rubber bleb nevus syndrome causes: Difference between revisions
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=== Genetic Causes === | === Genetic Causes === | ||
* [[Blue rubber bleb nevus syndrome]] is caused by a [[gene mutation]] in the short arm of [[Chromosome 9 (human)|chromosome 9]] gene.<ref name="pmid12015660">{{cite journal |vauthors=Dòmini M, Aquino A, Fakhro A, Tursini S, Marino N, Di Matteo S, Lelli Chiesa P |title=Blue rubber bleb nevus syndrome and gastrointestinal haemorrhage: which treatment? |journal=Eur J Pediatr Surg |volume=12 |issue=2 |pages=129–33 |date=April 2002 |pmid=12015660 |doi=10.1055/s-2002-30172 |url=}}</ref> | * [[Blue rubber bleb nevus syndrome]] is caused by a [[gene mutation]] in the short arm of [[Chromosome 9 (human)|chromosome 9]] gene.<ref name="pmid12015660">{{cite journal |vauthors=Dòmini M, Aquino A, Fakhro A, Tursini S, Marino N, Di Matteo S, Lelli Chiesa P |title=Blue rubber bleb nevus syndrome and gastrointestinal haemorrhage: which treatment? |journal=Eur J Pediatr Surg |volume=12 |issue=2 |pages=129–33 |date=April 2002 |pmid=12015660 |doi=10.1055/s-2002-30172 |url=}}</ref> | ||
* According to the recent studies [[blue rubber bleb nevus syndrome]] may be caused by [[Somatic mutation|somatic mutations]] in [[TEK tyrosine kinase|TEK]], the gene encoding TIE2.<ref name="pmid27519652">{{cite journal |vauthors=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 |title=Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations |journal=J. Invest. Dermatol. |volume=137 |issue=1 |pages=207–216 |date=January 2017 |pmid=27519652 |doi=10.1016/j.jid.2016.07.034 |url=}}</ref><ref name="pmid19079259">{{cite journal |vauthors=Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M |title=Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations |journal=Nat. Genet. |volume=41 |issue=1 |pages=118–24 |date=January 2009 |pmid=19079259 |pmc=2670982 |doi=10.1038/ng.272 |url=}}</ref> | * According to the recent studies [[blue rubber bleb nevus syndrome]] may be caused by [[Somatic mutation|somatic mutations]] in [[TEK tyrosine kinase|TEK]], the gene encoding TIE2.<ref name="pmid27519652">{{cite journal |vauthors=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 |title=Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations |journal=J. Invest. Dermatol. |volume=137 |issue=1 |pages=207–216 |date=January 2017 |pmid=27519652 |doi=10.1016/j.jid.2016.07.034 |url=}}</ref><ref name="pmid19079259">{{cite journal |vauthors=Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M |title=Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations |journal=Nat. Genet. |volume=41 |issue=1 |pages=118–24 |date=January 2009 |pmid=19079259 |pmc=2670982 |doi=10.1038/ng.272 |url=}}</ref><ref name="pmid29465551">{{cite journal |vauthors=Wang KL, Ma SF, Pang LY, Zhang MN, Hu LY, Liu MJ, Zou LP |title=Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report |journal=Medicine (Baltimore) |volume=97 |issue=8 |pages=e9453 |date=February 2018 |pmid=29465551 |pmc=5841973 |doi=10.1097/MD.0000000000009453 |url=}}</ref> | ||
* [[Blue rubber bleb nevus syndrome]] follows [[autosomal dominant]] pattern of [[inheritance]].<ref name="pmid23272612">{{cite journal |vauthors=Akutko K, Krzesiek E, Iwańczak B |title=[Blue rubber bleb naevus syndrome] |language=Polish |journal=Pol. Merkur. Lekarski |volume=33 |issue=196 |pages=226–8 |date=October 2012 |pmid=23272612 |doi= |url=}}</ref> | * [[Blue rubber bleb nevus syndrome]] follows [[autosomal dominant]] pattern of [[inheritance]].<ref name="pmid23272612">{{cite journal |vauthors=Akutko K, Krzesiek E, Iwańczak B |title=[Blue rubber bleb naevus syndrome] |language=Polish |journal=Pol. Merkur. Lekarski |volume=33 |issue=196 |pages=226–8 |date=October 2012 |pmid=23272612 |doi= |url=}}</ref> | ||
==References== | ==References== | ||
Latest revision as of 16:49, 5 December 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
The exact cause of blue rubber bleb nevus syndrome has not been identified yet. But recent studies shows that blue rubber bleb nevus syndrome may be caused by gene mutations.
Causes
Genetic Causes
- Blue rubber bleb nevus syndrome is caused by a gene mutation in the short arm of chromosome 9 gene.[1]
- According to the recent studies blue rubber bleb nevus syndrome may be caused by somatic mutations in TEK, the gene encoding TIE2.[2][3][4]
- Blue rubber bleb nevus syndrome follows autosomal dominant pattern of inheritance.[5]
References
- ↑ Dòmini M, Aquino A, Fakhro A, Tursini S, Marino N, Di Matteo S, Lelli Chiesa P (April 2002). "Blue rubber bleb nevus syndrome and gastrointestinal haemorrhage: which treatment?". Eur J Pediatr Surg. 12 (2): 129–33. doi:10.1055/s-2002-30172. PMID 12015660.
- ↑ 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 (January 2017). "Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations". J. Invest. Dermatol. 137 (1): 207–216. doi:10.1016/j.jid.2016.07.034. PMID 27519652.
- ↑ Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M (January 2009). "Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations". Nat. Genet. 41 (1): 118–24. doi:10.1038/ng.272. PMC 2670982. PMID 19079259.
- ↑ Wang KL, Ma SF, Pang LY, Zhang MN, Hu LY, Liu MJ, Zou LP (February 2018). "Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report". Medicine (Baltimore). 97 (8): e9453. doi:10.1097/MD.0000000000009453. PMC 5841973. PMID 29465551.
- ↑ Akutko K, Krzesiek E, Iwańczak B (October 2012). "[Blue rubber bleb naevus syndrome]". Pol. Merkur. Lekarski (in Polish). 33 (196): 226–8. PMID 23272612.