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Blue Rubber Bleb Nevus Syndrome (BRBNS)

Blue Rubber Bleb Nevus Syndrome (BRBNS)



Overview

Blue rubber bleb nevus syndrome (BRBNS), sometimes called Bean syndrome, is a rare congenital vascular anomaly in which malformed veins, or blebs, appear on the skin and surfaces of internal organs. These small, purple lesions are particularly common in the gastrointestinal (GI) tract.

While a child with BRBNS can have hundreds of blebs on the skin, clinicians are generally more concerned with GI blebs, as they can bleed and cause anemia requiring iron supplements and blood transfusions.

There is no single accepted treatment for blue rubber bleb nevus syndrome. Both GI and skin blebs can be treated with surgery or sclerotherapy. However, doctors typically leave blebs on the skin alone unless they cause cosmetic problems, pain or, if located on the soles of the feet, difficulty walking.

Blebs can appear and grow throughout a child’s lifetime, but those that are removed do not 

Symptoms 

No two children experience BRBNS in exactly the same way. The main signs are the presence of small, purple, generally painless blebs on the skin. The blebs appear most frequently on the skin and in the GI tract, but can be present just about anywhere on or in the body.

As a child gets older, more blebs may develop; they also tend to get larger over time. Some babies with the condition have blebs at birth that are too small to see. Sometimes the blebs stay small through childhood and flare slightly with the hormonal changes of puberty.

While the skin blebs rarely bleed, children with blebs in the GI tract can have frequent gastrointestinal bleeding caused by irritation of blebs by passing food or stool. In rare cases, these blebs can cause significant hemorrhaging.

Occasionally, a child will have a single dominant very large purple venous malformation. These can be often be removed surgically with great preparation and care.

Depending on how often and severe the bleeding is, patients may also complain of signs of anemia such as fatigue.

Causes

BRBNS is congenital (present at birth). The cause is not yet known, but researchers are actively searching for the condition's presumably genetic underpinnings.

Diagnosis

Doctors diagnose blue rubber bleb nevus syndrome based on physical examination and medical history. In addition, your doctor might order:

Fecal occult blood test, to look for signs of gastrointestinal bleeding

Blood tests to look for signs of anemia

Gastrointestinal endoscopy to look for and potentially treat blebs within the GI tract

Magnetic resonance imaging (MRI), X-ray, or computed tomography (CT) scan, which can help detect blebs within the body

These tests may involve a number of clinicians from several different medical specialties (e.g., pediatric gastroenterology, pediatric dermatology, pediatric surgery, pediatric radiology).

At Boston Children's, testing and diagnosis of children with blue rubber bleb nevus syndrome is coordinated through the Vascular Anomalies Center. Test results help clinicians and surgeons develop a plan of care and treatment tailored to your child's individual medical needs.

Treatments

The treatment of children with BRBNS is highly personalized based on the severity of the condition and the problems associated with it. Because the condition can affect so many different parts of the body, children with BRBNS often see clinicians and specialists from several medical fields.

The Vascular Anomalies Center (VAC) brings together specialists from across the hospital to take a coordinated approach in caring for children with blue rubber bleb nevus syndrome. Depending on an individual child's needs, this could include:

Blood transfusions and iron supplementation to treat anemia caused by gastrointestinal bleeding

Sclerotherapy, where doctors inject a medicine called a sclerosant into an abnormal vessel, causing the vessel to clot and shrink

Surgery to remove painful skin blebs or gastrointestinal blebs causing significant bleeding

In addition, the Boston Children’s specialists work closely with local physicians involved with the care of children with BRBNS who live in other states and countries.

Surgical removal of gastrointestinal blebs can be particularly difficult due to the high risk of bleeding. The surgeons and anesthesiologists who work with the VAC are some of the most experienced in the world in venous malformation removal from the skin and intestine.

Type of Doctor Department : A dermatologist or a gastroenterologist

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