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What is blue rubber bleb nevus syndrome?

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 return.

Blue Rubber Bleb Nevus Syndrome | Symptoms & Causes

What are the symptoms of blue rubber bleb nevus syndrome?

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.

What causes BRBNS

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

Blue Rubber Bleb Nevus Syndrome | Diagnosis & Treatments

How is blue rubber bleb nevus syndrome diagnosed?

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), 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.

What are the treatment options for BRBNS?

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.

How we care for blue rubber bleb nevus syndrome

The Vascular Anomalies Center's (VAC) interdisciplinary team of clinicians cares for children with blue rubber bleb nevus syndrome. The VAC's 25 physicians — representing 16 medical and surgical specialties — are experts in the field of vascular anomalies. Ours is one of the few centers in the world specializing in surgical treatment of BRBNS, especially surgical removal of blebs that appear in the gastrointestinal tract or large masses in and under the skin. Although the condition is very rare, the VAC team treats BRBNS patients commonly.

Specialists from multiple disciplines come together to care for every child seen at the VAC clinic. It's not uncommon for children on their first visit to the clinic to be evaluated by a whole team at the same time. From there, the team works with you to develop and carry out a comprehensive and coordinated care plan that matches your child's specific needs, bringing in the expertise of other Boston Children's departments and services as necessary to provide your child with the best care.

Blue Rubber Bleb Nevus Syndrome | Programs & Services