Blue rubber bleb nevus syndrome pathophysiology
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.