Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital condition involving vascular malformations in the intestinal tract and skin, which can lead to internal bleeding and cosmetic concerns. Surgery may be recommended, and genetic counseling is advised for those with a family history.
Blue rubber blister nevus syndrome (BRBNS) is a congenital condition involving vascular malformations in the intestinal tract and skin. It is extremely rare and is thought to be related to other conditions involving familial vascular malformation, in which families carry genes that predispose members to blood vessel malformations. People with blue rubber bleb nevus syndrome develop small, knotted clusters of blood vessels, creating a distinctive bluish, rubbery lump.
The main concern with this condition is the risk of internal bleeding. These malformations usually appear along the length of the intestine and are often very fragile. Trauma or stress can cause a malformation to rupture, leading to internal bleeding. This can put patients at risk of injury, including death associated with severe blood loss. Medical imaging can be used to pinpoint active lesions in the intestines, and patients should be on the lookout for warning signs such as bloody or dark stools.
In addition to being a health concern, blue rubber bleb nevus syndrome is also a cosmetic concern for some patients. Vessel nodes can appear anywhere on the body, starting in early childhood, and can attract unwanted attention. Growths under and in the skin can also rupture, leading to bruising and bleeding. This can lead to unsightly patches under the skin, and in some cases, treatment may be needed, such as when a blood blister forms, creating a cyst filled with fluid and blood.
Also known as beanbag syndrome, this condition cannot be cured, although there are steps people can take to manage it. Patients are usually monitored throughout their lives for the development of new vascular malformations. Surgery may be recommended in some cases if a group of blood vessels is cause for concern. This allows doctors to intervene before a rupture and serious injury occurs, which is generally preferable to having to treat a patient after a problem has already developed.
People with a family history of blue rubber bleb nevus syndrome can discuss it with a genetic counselor. In general, there is no reason for couples with this condition in their medical history not to have children, but they should be aware of the increased risk of vascular abnormalities in the child. Such conditions aren’t necessarily inherited automatically, depending on which genes a child receives, but a child could either have a congenital condition or become a carrier, passing the genes for conditions like blue rubber bleb nevus syndrome to his or her children.
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