Blue Rubber Bleb Nevus Syndrome, referred to as BRBN within the medical community, is a rare congenital disorder. This indicates that most patients are born with this condition. It is characterized by the noticeable blue or brown thick skin tags that develop on the outside or inside of the body. It occurs due to somatic mutations in the TEK gene. 

Cause: Unfortunately the exact cause of the disorder has yet to be pinpointed by researchers due to the baseline unique nature of pregnancy itself. Several factors can come into play including a birth-giver's: diet, exercise habits, medicine intake, or surroundings that may cause the genetic mutation to occur. It is important to note that even a healthy parent can have a child with this condition if the gene itself is present. (IP)

Symptoms include: 

• Skin Lesions: Little dome shaped skin tags that may present themselves at birth or develop later in life. They range in size from millimeters to centimeters 

• Gastrointestinal Bleeding: Skin tags in the intestinal tract can cause internal bleeding and abdominal pain which may lead to further complications such as anemia 

• Organ Functions Compromised: If the tags appear on various organs it may cause problems relating to that organ. For example on the brain and on the lungs can cause seizures and respiratory difficulties

• Skeletal Abnormalities: May cause skeletal fractures or scoliosis

Courtesy of Leeds Beckett University, Jenny Malcolm has provided her story in dealing with this condition. 

When Jenny was born she had a massive growth located near the nape of the neck that continued to grow as she aged. When she was 5 years old the doctors attempted to remove said tissue mass due it being the size of a grapefruit. However the operation proved to be too difficult due to transfusion excess - referring to a patient having too much fluid in their lungs due to abnormal blood deposits in the circulatory system. 

At the age of 9, Jenny was finally diagnoses with BRBNS, and describes it as "blebs form on surfaces of my internal organs, and in the skin... on the back of my neck, in my tongue, the muscle on my left calf, in my left knee, through my gastrointestinal system" that look similar to bruises. 

While BRBNS rarely results in cancerous tissue, the blebs themselves are made up of blood vessels which create issues for surrounding tissues and hemorrhages are life threatening. Having these issues appear from head to toe was not easy for Jenny who claims "living with [BRBNS] involves coping with discomfort and pain both from the blebs themselves and from regular medical procedures".  Some of these procedures include medications, surgery, and several examinations; which exhaust a patient both physically and mentally. 

Despite these struggles, Jenny has persevered by finding opportunities within the Rare Disease World. She connected with fellow impacted individuals on social media and recently gave a speech about the condition to the School of Health Seminar. If you'd like to support Jenny, please find her attached work below. 

https://www.leedsbeckett.ac.uk/blogs/school-of-health/2024/09/exploring-blue-rubber-bleb-nevus-syndrome/

All patient information was self provided through access by an article published by Leeds Beckett University.