Blue rubber bleb nevus syndrome pathophysiology: Difference between revisions
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* It is understood that [[Blue rubber bleb nevus syndrome]] is caused by [[gene mutation]] in the [[short arm]] of [[Chromosome 9 (human)|chromosome 9]].<ref name="DòminiAquino2002">{{cite journal|last1=Dòmini|first1=M.|last2=Aquino|first2=A.|last3=Fakhro|first3=A.|last4=Tursini|first4=S.|last5=Marino|first5=N.|last6=Di Matteo|first6=S.|last7=Lelli Chiesa|first7=P.|title=Blue Rubber Bleb Nevus Syndrome and Gastrointestinal Haemorrhage: Which Treatment?|journal=European Journal of Pediatric Surgery|volume=12|issue=2|year=2002|pages=129–133|issn=09397248|doi=10.1055/s-2002-30172}}</ref> | * It is understood that [[Blue rubber bleb nevus syndrome]] is caused by [[gene mutation]] in the [[short arm]] of [[Chromosome 9 (human)|chromosome 9]].<ref name="DòminiAquino2002">{{cite journal|last1=Dòmini|first1=M.|last2=Aquino|first2=A.|last3=Fakhro|first3=A.|last4=Tursini|first4=S.|last5=Marino|first5=N.|last6=Di Matteo|first6=S.|last7=Lelli Chiesa|first7=P.|title=Blue Rubber Bleb Nevus Syndrome and Gastrointestinal Haemorrhage: Which Treatment?|journal=European Journal of Pediatric Surgery|volume=12|issue=2|year=2002|pages=129–133|issn=09397248|doi=10.1055/s-2002-30172}}</ref> | ||
* The [[gene mutation]] in the [[short arm]] of [[Chromosome 9 (human)|chromosome 9]] results in the development of [[venous]] [[malformations]]. | * The [[gene mutation]] in the [[short arm]] of [[Chromosome 9 (human)|chromosome 9]] results in the development of [[venous]] [[malformations]]. | ||
=== Gross Pathology === | |||
* On gross pathology, multiple venous malformations and hemangiomas are characteristic findings of [[blue rubber bleb nevus syndrome]].<ref name="pmid25493043">{{cite journal |vauthors=Jin XL, Wang ZH, Xiao XB, Huang LS, Zhao XY |title=Blue rubber bleb nevus syndrome: a case report and literature review |journal=World J. Gastroenterol. |volume=20 |issue=45 |pages=17254–9 |date=December 2014 |pmid=25493043 |pmc=4258599 |doi=10.3748/wjg.v20.i45.17254 |url=}}</ref> | |||
* | * | ||
==References== | ==References== | ||
Revision as of 16:37, 4 December 2018
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
The exact pathogenesis of blue rubber bleb nevus syndrome is not fully understood.It is thought that blue rubber bleb nevus syndrome is caused by gene mutation.
Pathophysiology
Pathogenesis
- The exact pathogenesis of blue rubber bleb nevus syndrome is not completely understood.
- It is understood that blue rubber bleb nevus syndrome is the result of gene mutation.
Genetics
- Blue rubber bleb nevus syndrome is transmitted in autosomal dominant pattern.[1]
- Blue rubber bleb nevus syndrome is also transmitted in sporadically pattern sometimes.
- It is understood that Blue rubber bleb nevus syndrome is caused by gene mutation in the short arm of chromosome 9.[2]
- The gene mutation in the short arm of chromosome 9 results in the development of venous malformations.
Gross Pathology
- On gross pathology, multiple venous malformations and hemangiomas are characteristic findings of blue rubber bleb nevus syndrome.[3]
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.
- ↑ Dòmini, M.; Aquino, A.; Fakhro, A.; Tursini, S.; Marino, N.; Di Matteo, S.; Lelli Chiesa, P. (2002). "Blue Rubber Bleb Nevus Syndrome and Gastrointestinal Haemorrhage: Which Treatment?". European Journal of Pediatric Surgery. 12 (2): 129–133. doi:10.1055/s-2002-30172. ISSN 0939-7248.
- ↑ Jin XL, Wang ZH, Xiao XB, Huang LS, Zhao XY (December 2014). "Blue rubber bleb nevus syndrome: a case report and literature review". World J. Gastroenterol. 20 (45): 17254–9. doi:10.3748/wjg.v20.i45.17254. PMC 4258599. PMID 25493043.