ABOUT Blue Rubber Bleb Nevus Syndrome

Blue rubber bleb nevus syndrome (BRBNS) is a rare condition that is characterized by numerous malformations of the venous system that significantly involve the skin and visceral organs. This condition was initially discovered in 1860 by Gascoyen. However, it was later made famous in 1958, by William Bennett Bean for which the disease has been termed "bean syndrome," later referenced as blue rubber bleb nevus syndrome. BRBNS is an important condition due to the potential for significant bleeding which can be fatal. BRBNS occurs in early childhood, rarely happens in adulthood. 

Chromosomes Involved and Gene Locus

A gene mutation has been mapped to the short arm of chromosome 9 and might be involved in these familial cases.BRBNS is caused by somatic mutations in the TEK (TIE2) gene.

Type of Genetic Mutation That Causes BRBNS

Most cases of blue rubber bleb nevus syndrome are thought to occur by chance (sporadically).There have been a few cases of families with multiple family members affected with BRBNS. In these families, the condition appears to be inherited in an autosomal dominant manner. There is a genetic syndrome similar to blue rubber bleb nevus syndrome called familial venous malformation syndrome. This syndrome is caused by mutations (changes) in a gene called TEK. 

Symptoms

BRBNS is characterized by soft, elevated lesions on the skin or just under the skin that are dark blue, red, purple-red or black in color. The venous malformations may be tender, contain blood and be easily compressed and are usually located on the upper limbs, trunk and soles of the feet but can occur anywhere. The lesions increase in size and become more apparent over time but have not been reported to become cancerous. The organ system most commonly affected by BRBNS is the gastrointestinal (GI) tract, particularly the small intestine. The lesions in the GI tract often bleed and can lead to mild or severe anemia. Iron replacement and/or frequent blood transfusions may be required. The GI lesions can also cause an obstruction or blockage (intussusception) of part of the bowel. Skeletal abnormalities and venous malformations in muscle are sometimes associated with BRBNS. Nevi, which are skin spots may also be found in the intestines (particularly the small intestine) in individuals with blue rubber bleb nevus syndrome. These nevi can bleed spontaneously causing anemia.Most bleeding from the gastrointestinal tract is slow ; however, sudden quick bleeding (hemorrhage) is possible. Other serious complications of gastrointestinal legions may include intussusception, bowel infraction, and even death.

Treatment and Diagnosis of Blue Rubber Bleb Nevus Syndrome 

BRBNS is diagnosed by physical examination and a procedure in which the GI tract is illuminated and visualized (endoscopy). Genetic testing for BRBNS is available on a research basis only.Iron therapy and blood transfusions are used to conservatively manage BRBNS. The skin lesions associated with BRBNS can be treated with laser therapy, injection of chemicals that collapse the lesion (sclerotherapy) or surgical removal. Lesions in the gastrointestinal system are usually not removed unless bleeding leads to anemia and necessitates repeated blood transfusions. Gastrointestinal lesions can be safely removed surgically, but one or several lengthy operations may be required.

Information about Support Groups for Individuals or Families of   Individuals with BRBNS

Additional information resources on blue rubber bleb nevus syndrome can be found on the Office of Rare Diseases Research resource page on this syndrome at the following link: http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5940.To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.