Blue Rubber Bleb Nevus Syndrome (BRBNS), also called Beane Syndrome, is a condition that usually runs in families. Affected individuals have multiple venous malformations involving mainly the skin, muscles and gastrointestinal tract (stomach and bowel). While there are no cures for Blue Rubber Bleb Nevus Syndrome, there are currently a few different means of treatment to remove the venous malformations or alleviate symptoms caused by the malformations.

The venous malformations can develop progressively over the lifetime of the effected individual. When they involve the skin, they are usually blue and somewhat raised. They can measure as little as 1mm in diameter, or they can be large protruding masses. These are mostly asymptomatic, although the larger ones can be painful. They can form small blood clots, which causes a rubbery feeling when they are squeezed.

The intramuscular venous malformations in Blue Rubber Bleb Nevus Syndrome are usually focal, round, or spherical lesions that show up very well on MRI scans. Typically, these cause pain, especially with activities, hormonal changes (in females) and with impact or pressure. The venous malformations in the gastrointestinal tract typically cause bleeding causing anemia. In some patients, it becomes progressively more severe, requiring blood transfusions. When the venous malformations protrude into the bowel, they can cause partial or complete bowel obstruction resulting in crampy abdominal pain.

Blue Rubber Bleb Nevus Syndrome is usually diagnosed by clinical examination in a patient who has the typical skin lesions, gastrointestinal bleeding, and a family history of multiple venous malformations. MRI findings are quite characteristic. The deep venous malformations in BRBNS are typically round or oval shaped, and occur in clusters like rosettes. They can be anywhere in the body, but typical locations are in the neck, near the angle of the jaw, and in the muscle above the hip joints. They can often be seen in the liver, where they usually do not cause any problems. The venous malformations involving the bowel are not well seen by imaging, and require endoscopy (passage of a scope into the stomach and lower intestine). Recently, capsule endoscopy, in which the individual swallows a capsule containing a tiny camera, has been used to identify the vascular malformations in the small intestines.

There are different cures for BRBNS available based on where the venous malformations are located in the body. Venous malformations involving the skin and muscle respond well to treatment by sclerotherapy. The venous malformations in the intestines must be treated by surgical removal, or in the stomach or lower intestine, by banding.

Most individuals with Blue Rubber Bleb Nevus Syndrome require intermittent treatment to alleviate the discomfort associated with the muscular venous malformations, and many require abdominal surgery to treat the gastrointestinal bleeding. However, the available treatments for Blue Rubber Bleb Nevus Syndrome are highly effective, so most patients can lead normal lives.