Blue rubber bleb nevus syndrome

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Blue rubber bleb nevus syndrome
BRNSCase-36.jpg
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] BRBNS is caused by somatic mutations in the TEK (TIE2) gene.[4]

Presentation[edit]

BRBNS is a venous malformation,[5] formerly, though incorrectly, thought to be related to the hemangioma. It carries significant potential for serious bleeding.[6] Lesions are most commonly found on the skin and in the small intestine and distal large bowel. It usually presents soon after birth.[7]

Diagnosis[edit]

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

See also[edit]

References[edit]

  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 1944156Freely accessible. PMID 5920397. 
  4. ^ Soblet, J; Kangas, J; Nätynki, M; Mendola, A; Helaers, R; Uebelhoer, M; Kaakinen, M; Cordisco, M; Dompmartin, A; Enjolras, O; Holden, S; Irvine, AD; Kangesu, L; Léauté-Labrèze, C; Lanoel, A; Lokmic, Z; Maas, S; McAleer, MA; Penington, A; Rieu, P; Syed, S; van der Vleuten, C; Watson, R; Fishman, SJ; Mulliken, JB; Eklund, L; Limaye, N; Boon, LM; Vikkula, M (9 August 2016). "Blue Rubber Bleb Nevus (BRBN) Syndrome is caused by Somatic TEK (TIE2) Mutations.". The Journal of Investigative Dermatology. 137: 207–216. doi:10.1016/j.jid.2016.07.034. PMID 27519652. 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ 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. 

External links[edit]