Specialty oncology ICD-9-CM 228.0 OMIM 112200 | ICD-10 D18 ICD-O 9121/0 eMedicine derm/56 | |
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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. BRBNS is caused by somatic mutations in the TEK (TIE2) gene.
Presentation
BRBNS is a venous malformation, formerly, though incorrectly, thought to be related to the hemangioma. It carries significant potential for serious bleeding. Lesions are most commonly found on the skin and in the small intestine and distal large bowel. It usually presents soon after birth.
References
Blue rubber bleb nevus syndrome Wikipedia(Text) CC BY-SA