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Blue rubber bleb nevus syndrome

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This is an old revision of this page, as edited by 66.66.171.250 (talk) at 02:00, 11 March 2016 (i cant believe that this anecdotal evidence reported by some random person in London in 2012 is being used to support a genetic link. Not that a genetic link does not exist, but the fact that this is not evidence.). The present address (URL) is a permanent link to this revision, which may differ significantly from the current revision.

Blue rubber bleb nevus syndrome
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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]

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] BRBNS used to be thought of as having no genetic inheritance however, in 1995 doctors discovered that information to be false, it has been suggested that it may represent a manifestation of familial venous malformation, and may be associated with TEK tyrosine kinase.[7][8]

Diagnosis

Visceral venous malformations seen in blue rubber bleb nevus syndrome. Lesions chiefly affect the gut (image below), are fragile, and bleed easily.

See also

References

  1. ^ synd/740 at Who Named It?
  2. ^ Bean, William Bennett (1958). Vascular spiders and related lesions of the skin. Springfield, Illinois: Charles C.Thomas. pp. 178–85.
  3. ^ Walshe MM, Evans CD, Warin RP (Oct 1966). "Blue rubber bleb naevus". Br Med J. 2 (5519): 931–2. doi:10.1136/bmj.2.5519.931. PMC 1944156. PMID 5920397.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  4. ^ Dobru D, Seuchea N, Dorin M, Careianu V (Sep 2004). "Blue rubber bleb syndrome: case report and literature review". Rom J Gastroenterol. 13 (3): 237–40. PMID 15470538.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  5. ^ Ertem D, Acar Y, Kotiloglu E, Yucelten D, Pehlivanoglu E (Feb 2001). "Blue rubber bleb nevus syndrome". Pediatrics. 107 (2): 418–20. doi:10.1542/peds.107.2.418. PMID 11158481.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  6. ^ 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. doi:10.2214/ajr.181.4.1811041. PMID 14500226.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  7. ^ Online Mendelian Inheritance in Man (OMIM): BLUE RUBBER BLEB NEVUS - 112200
  8. ^ 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. doi:10.1136/jmg.32.3.197. PMC 1050316. PMID 7783168.
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