| Blue rubber bleb nevus syndrome | |
|---|---|
| Classification and external resources | |
| ICD-10 | D18. |
| ICD-9 | 228.0 |
| ICD-O: | 9121/0 |
| OMIM | 112200 |
| eMedicine | derm/56 |
Blue rubber bleb nevus syndrome (or "BRBNS", or "blue rubber bleb syndrome, or "blue rubber-bleb nevus", or "Bean syndrome") is a rare disorder that consists mainly of abnormal blood vessels affecting the gastrointestinal tract.
It was characterized by William Bean in 1958.[1][2][3]
Contents |
Presentation
BRBNS is a venous malformation,[4] formerly, though incorrectly, thought to be related to the hemangioma. It carries significant potential for serious bleeding.[5] Lesions are most commonly found on the skin and in the small intestine and distal large bowel. It usually presents soon after birth.[6] Although no genetic link has yet been determined, it has been suggested that it may represent a manifestation of familial venous malformation, and may be associated with TEK tyrosine kinase.[7][8]
Causes
The causes of this syndrome are unknown. Not more than a few hundred cases have been described worldwide.
References
- ^ synd/740 at Who Named It?
- ^ Bean, William Bennett (1958). Vascular spiders and related lesions of the skin. Springfield, Illinois: Charles C.Thomas. pp. 178–85.
- ^ Walshe MM, Evans CD, Warin RP (Oct 1966). "Blue rubber bleb naevus". Br Med J 2 (5519): 931–2. PMID 5920397.
- ^ Dobru D, Seuchea N, Dorin M, Careianu V (Sep 2004). "Blue rubber bleb nevus syndrome: case report and literature review". Rom J Gastroenterol 13 (3): 237–40. PMID 15470538. http://www.jgld.ro/32004/32004_9.html.
- ^ Ertem D, Acar Y, Kotiloglu E, Yucelten D, Pehlivanoglu E (Feb 2001). "Blue rubber bleb nevus syndrome". Pediatrics 107 (2): 418–20. PMID 11158481. http://pediatrics.aappublications.org/cgi/pmidlookup?view=long&pmid=11158481.
- ^ Kassarjian A, Fishman SJ, Fox VL, Burrows PE (Oct 2003). "Imaging characteristics of blue rubber bleb nevus syndrome". AJR Am J Roentgenol 181 (4): 1041–8. PMID 14500226. http://www.ajronline.org/cgi/pmidlookup?view=long&pmid=14500226.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) BLUE RUBBER BLEB NEVUS -112200
- ^ Gallione CJ, Pasyk KA, Boon LM, et al (Mar 1995). "A gene for familial venous malformations maps to chromosome 9p in a second large kindred". J. Med. Genet. 32 (3): 197–9. PMID 7783168.
External links
- Birthmarks.us
- DermAtlas 216
- Miami Herald article describing day in the life of a sufferer
- Blue rubber bleb nevus; Bean syndrome at NIH's Office of Rare Diseases
 |
This disease article is a stub. You can help Wikipedia by expanding it. |
|
||||||||||||||
This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)
