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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.[1][2][3]
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] Although no genetic link has yet been determined, it has been suggested that it may represent a manifestation of familial venous malformation, and may be associated with TEK tyrosine kinase.[7][8]
Chest CT showed bilateral axillary soft-tissue masses with a lobulated, “frond-like” appearance. There were similar soft-tissue densities in the aortopulmonary window and left paratracheal region measuring 2 cm and x cm, respectively. Multiple small pulmonary nodules (2 to 15 mm in size) were detected in association with distal pulmonary vessels or abutting the pleura. A chest CT scan without contrast reveals multiple nodular opacities in the lung parenchyma. Some of these nodules abut the pleura and are associated with pulmonary vessels. [9]
The causes of this syndrome are unknown. Not more than a few hundred cases have been described worldwide.
Most cases of blue rubber bleb nevus syndrome are sporadic but families have been described in which the condition follows autosomal dominant inheritance. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. [10]
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