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] BRBNS is caused by somatic mutations in the TEK (TIE2) gene.[4]
Presentation
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
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
- ↑ 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. doi:10.1136/bmj.2.5519.931. PMC 1944156
. PMID 5920397. - ↑ 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. PMID 27519652.
- ↑ 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.
- ↑ 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.
- ↑ 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
- Miami Herald article describing day in the life of a sufferer
- Blue rubber bleb nevus; Bean syndrome at NIH's Office of Rare Diseases
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