| Blue rubber bleb nevus syndrome | |
|---|---|
| Other names | BRBNS, or Blue rubber bleb syndrome, or Blue rubber-bleb nevus or Bean syndrome |
 | |
| The cutaneous vascular malformations of blue rubber bleb nevus syndrome | |
| Specialty | Oncology  |
Blue rubber bleb nevus syndrome is a rare disorder that consists mainly of abnormal blood vessels affecting the skin or internal organs – usually the gastrointestinal tract.[1] The disease is characterized by the presence of fluid-filled blisters (blebs) as visible, circumscribed, chronic lesions (nevi).
BRBNS is caused by somatic mutations in the TEK (TIE2) gene.[2] It was described by William Bennett Bean in 1958.[3]
- ^ Baigrie, Dana; Rice, Ashley S.; An, In C. (2022). "Blue Rubber Bleb Nevus Syndrome". StatPearls. StatPearls Publishing. PMID 31082129.
- ^ Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, et al. (January 2017). "Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations". The Journal of Investigative Dermatology. 137 (1): 207–216. doi:10.1016/j.jid.2016.07.034. PMID 27519652.
- ^ Mulliken, John B. (2013). "13. Capillary malformations, hyperkeratotic stains, telangiectasias, and miscellaneous vascular blots". In Mulliken, John B.; Burrows, Patricia E.; Fishman, Steven J. (eds.). Mulliken and Young's Vascular Anomalies: Hemangiomas and Malformations (2nd ed.). Oxford University Press. pp. 552–553. ISBN 978-0-19-972254-9.