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Open main menu  Search Edit Watch this page Read in another language Blue rubber bleb nevus syndrome 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. Blue rubber bleb nevus syndromeThe cutaneous vascular malformations of blue rubber bleb nevus syndrome.Classification and external resourcesSpecialtyoncologyICD-10D18ICD-9-CM228.0ICD-O9121/0OMIM112200eMedicinederm/56 [edit on Wikidata] It was characterized by William Bean in 1958.[1][2][3] BRBNS is caused by somatic mutations in the TEK (TIE2) gene.[4] PresentationEdit 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] DiagnosisEdit  Visceral venous malformations seen in blue rubber bleb nevus syndrome. Lesions chiefly affect the gut (image above), are fragile, and bleed easily. See alsoEdit Bart syndrome List of cutaneous conditions References External links Last edited 6 months ago by Brainist RELATED ARTICLES Nevus Human disease Port-wine stain vascular anomaly Hereditary leiomyomatosis and renal cell cancer syndrome  Content is available under CC BY-SA 3.0 unless otherwise noted. Terms of Use Privacy Desktop 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 SomaticTEK (TIE2) Mutations.'. The Journal of Investigative Dermatology. 137: 207–216.PMID 27519652.doi:10.1016/j.jid.2016.07.034. |
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