Blue rubber bleb nevus syndrome causes: Difference between revisions
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{{Blue rubber bleb nevus syndrome}} | {{Blue rubber bleb nevus syndrome}} | ||
{{CMG}} | {{CMG}} ; {{AE}} {{VKG}} | ||
==Overview== | ==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 mutation|gene mutations]]. | 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 mutation|gene mutations]]. | ||
Revision as of 15:54, 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]
- Blue rubber bleb nevus syndrome follows autosomal dominant pattern of inheritance.[4]
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.
- ↑ Akutko K, Krzesiek E, Iwańczak B (October 2012). "[Blue rubber bleb naevus syndrome]". Pol. Merkur. Lekarski (in Polish). 33 (196): 226–8. PMID 23272612.