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Blue Rubber Bleb Nevus Syndrome (BRBNS)

Conditions

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Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare condition in which multiple venous malformations are present throughout the body, typically within the skin, soft tissues and the gastrointestinal tract.

Blue Rubber Bleb Nevus Syndrome (BRBNS) is caused by a genetic abnormality that leads to uncontrolled growth of different tissues in various parts of the body. Lesions can be a few millimeters up to several centimeters in size and are usually multiple.  Lesions have been described in the brain and skull as well as kidney, liver and spleen.  It is generally believed that this is a congenital lesion, but occasionally new lesions may be formed or grow over time.

Signs and Symptoms

Characteristics may include:

  • Bluish small blebs on the skin and soft tissue
  • Abdominal pain or vomiting
  • Fatigue

Common problems may include:

  • Anemia
  • Pain of the area affected by the vascular anomaly
  • Limitation of mobility due to the vascular anomalies
  • Bleeding from lesions anywhere in the gastrointestinal tract
  • Bowel obstruction from intussusception or volvulus

Genetics

BRBNS occurs sporadically, although there are several reports of families with multiple affected family members which suggests an autosomal dominant inheritance. There may be some overlap between BRBNS and Multifocal Venous Malformation Syndrome as mutations in TEK (TIE 2) have been described in both.

Diagnosis and Tests

Diagnosis and tests may consist of:

  • Physical exam
  • Complete Blood Count, Iron Panel
  • Upper gastrointestinal endoscopy and colonoscopy
  • Wireless capsule endoscopy
  • Balloon or push enteroscopy
  • Diagnostic X-rays of the extremities
  • Magnetic Resonance Imaging (MRI) for better visualization of venous malformations

Treatment

Management of BRBNS involves a multidisciplinary team.  Treatment goals include reducing the symptoms and reducing or removing the lesions.

Care may include:

  • Iron supplementation
  • Medical therapy with sirolimus – a medication that controls growth of these lesions
  • Endoscopic therapy with band ligation
  • Combined endoscopy with surgery to remove lesions in the bowel
  • Surgical intervention to remove cosmetically or functionally disturbing benign growths (from the skin and occasionally from the mouth)