Genetic Disorder - Blue Rubber Bleb Nevus Syndrome

Genetic Disorder

Blue Rubber Bleb Nevus Syndrome

Monet Garrett

Period 3 4B

Type of Disorder

        Blue Rubber Bleb Nevus syndrome (BRBNS), also know as “bean syndrome” is a rare autosomal disease and it is the dominant allele. It is caused by inheriting a defective gene or by a heterozygous mutation in the TEK (TIE2) gene (600221) on chromosome 9p21. BRBNS is characterized by blue/purple rubber texture like pimple/blebs on the skin and organs, mostly along the digestive/gastrointestinal tract. The digestive tract includes the esophagus, stomach, intestines, and all the way down to the anus. It is very important to treat due to bleeding internally and externally, which could be fatal.

Locus Number

        There was no Locus Number found. The disease is found in the TEK(Tie2) gene(600221) on chromosome 9p21.

Symptoms

• Small or big blue pimple/”bleb” like figures appear on the skin. Rubber like texture.
• Possibility of fatal bleeding. Bright red blood in vomit.
• Digestive or gastrointestinal (GI) bleeding, includes the esophagus, stomach, small intestine, large intestine or colon, rectum, and anus. Bleeding can come from any of these areas.
• Can affect the brain, kidneys, lungs, eyes, bones and other organs. Blue pimples can form on organs.
• Possibility of increased sweating.
• Vomit that looks like coffee grounds
• Black or tarry solid waste
• Dark blood mixed with solid waste
• Damaged tissues        

Pedigree Chart

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Amount of people affected

There are more than 200 cases reported since being discovered in1860 by Gascoyen. Usually the disease presents itself during birth and childhood. It can also though present itself in early adulthood. Usually occurs to white people. No specific race.

Treatment

Requires lifelong treatment with iron and blood transfusions. Surgical therapy would help stop/ slow down the bleeding. First you will get a digestive/gastrointestinal tract endoscopy to identify how many and where the blebs are. The surgery includes removing a triangular shaped tissue, removing an abnormal growth of tissue, using a thread to shut down blood vessels or hollow structures, and removing parts of an organ. Dystrophic calcification, fixing damaged tissue with calcium, also will help. Finally eating food high in iron. Usually with the treatment people with the disorder live quite long and don’t die at an early age.

Possible Cures

No cures have been found, scientists say that they are not close to one either. Only possible cure is if you go through the surgical treatment over and over again. One possible cure is if you can remove the blue blebs. Also eat foods that have lots of iron because most people who have this disease are low on iron.

Prevention

        No known prevention because you randomly inherit the disease, usually at birth. Treatments may possibly help from getting the disease in later years.

Support/Research Centers

http://www.ncbi.nlm.nih.gov/pubmed/?term=blue+rubber+bleb+nevus+syndrome   This site gives information on the disease and authors/scientists that can help you with the disease. http://www.childrenshospital.org/centers-and-services/programs/o-_-z/vascular-anomalies-center-program/overview  This site gives information of a Vascular Anomalies Center. It is at Boston Children’s Hospital. http://www.rarediseases.org/rare-disease-information/rare diseases/byID/605/viewAbstract  This site gives contact information to other centers.