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Blue rubber bleb nevus syndrome (BRBNS) is a congenital condition involving vascular malformations in the intestinal tract and the skin. It is extremely rare and is believed to be related to other conditions involving familial vascular malformation, where 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 primary concern with this condition is the risk of internal bleeding. These malformations usually appear along the length of the intestines and they are often very fragile. Trauma or stress can cause a malformation to rupture, leading to internal bleeding. This can expose patients to the risk of injuries, including death associated with severe blood loss. Medical imaging can be used to spot active lesions in the intestines, and patients have to remain alert to warning signs like bloody or darkened stool.
In addition to being a health issue, blue rubber bleb nevus syndrome is also an aesthetic issue for some patients. The knots of vessels can appear anywhere on the body, starting in early childhood, and may attract unwanted attention. The growths under and in the skin can also potentially rupture, leading to bruising and bleeding. This may lead to unsightly splotching under the skin, and treatment can be required in some cases, as when a blood blister forms, creating a cyst filled with fluid and blood.
Also known as bean syndrome, this condition cannot be cured, although there are steps people can take to manage it. Patients are usually monitored throughout life for the development of new vascular malformations. Surgery may be recommended in some cases if a cluster of blood vessels is a cause for concern. This allows doctors to intervene before a rupture and serious injury, 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. Generally, 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 are not necessarily automatically inherited, depending on the genes a child receives, but a child could have a congenital condition or become a carrier, passing the genes for conditions like blue rubber bleb nevus syndrome on to children of his own.