Blue rubber bleb nevus syndrome pathophysiology: 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 [[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==
==Pathophysiology==
BRBNS is a [[venous]] malformation, formerly, though incorrectly, thought to be related to the [[hemangioma]]. It carries significant potential for serious or fatal bleeding. [[Lesion]]s are most commonly found on the [[skin]] and in the [[small intestine]] and [[distal]] [[large bowel]].


=== 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.<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 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 (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]].
=== 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==
{{reflist|2}}
{{reflist|2}}

Latest revision as of 17:30, 22 March 2019

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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 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

Genetics

Gross Pathology

References

  1. 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.
  2. 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.
  3. 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.

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