Blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome

The cutaneous vascular malformations of blue rubber bleb nevus syndrome.
Classification and external resources
Specialty oncology
ICD-10 D18
ICD-9-CM 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]

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] Gareth Fisher, a medical student at a London hospital interviewed a patient with the condition in 2012, who disclosed he had a dizygotic twin brother with the same condition, supporting a genetic link. Some of this patient's malformations were in the proximity of 20mm in diameter.

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.
  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.
  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.
  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.
  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.

External links

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