What is Blue Rubber Bleb Nevus syndrome

Blue Rubber Bleb Nevus syndrome (BRBNS) is a rare disorder characterized by the development of multiple vascular malformations, known as blebs, throughout the body. These blebs appear as blue or purple rubbery bumps on the skin and can also affect internal organs such as the gastrointestinal tract.

BRBNS is typically present at birth or develops during childhood. The exact cause of this syndrome is unknown, but it is thought to be caused by abnormalities in blood vessel development.

Individuals with BRBNS may experience various symptoms depending on the location and size of the blebs. Common symptoms include gastrointestinal bleeding, anemia, and iron deficiency. In some cases, the blebs can rupture, leading to severe bleeding.

Diagnosis of BRBNS involves a thorough physical examination, imaging tests, and sometimes a biopsy of the affected tissues. Treatment options for BRBNS focus on managing symptoms and preventing complications. This may include medications to control bleeding, blood transfusions, and surgical removal of problematic blebs.

Early detection and appropriate management can help improve the quality of life for individuals with BRBNS.