Blue rubber bleb nevus syndrome
Other Names for this Disease
- Bean syndrome
- Blue rubber bleb nevus
Your QuestionI have recently been diagnosed with blue rubber bleb nevus. I want to find out more about it. Can you recommend a source of information I can review, please?
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Questions on this page
- What is blue rubber bleb nevus syndrome?
- What are the signs and symptoms of blue rubber bleb nevus syndrome?
- What causes blue rubber bleb nevus syndrome?
- Is blue rubber bleb nevus syndrome genetic?
- How might blue rubber bleb nevus syndrome be treated?
- How can I find more information on blue rubber bleb nevus?
- How can I find a genetics professional in my area?
Nevi 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 infarction, and even death.
Blue rubber bleb nevus syndrome can affect other body organs as well. Nevi have been reported in the skull, central nervous system, thyroid, parotid, eyes, mouth, lungs, pleura, pericardium, musculoskeletal system, peritoneal cavity, mesentery, kidney, liver, spleen, penis, vulva, and bladder. Nevi may also put pressure on joints, bones, or feet, which may make walking difficult or limit range of motion.
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. Familial venous malformation syndrome is passed through families in an autosomal dominant fashion.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Massoumi H, Patel S. Blue rubber bleb nevus syndrome. Gastrointestinal endoscopy. 2007;
- Brandt LJ. Blue rubber bleb nevus syndrome: Capsule endoscopy in a patient with GI bleeding. Gastrointestinal endoscopy. 2007;
- den Heijer T. Blue rubber bleb nevus syndrome. Neurology. 2007;
- Cherpelis BS. Blue rubber bleb nevus syndrome. eMedicine. August 2012; http://emedicine.medscape.com/article/1082839-print. Accessed 11/9/2012.
- Blue rubber bleb nevus syndrome. Online Mendelian Inheritance in Man. 2004; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112200. Accessed 1/14/2010.
- Boon LM, Vikkula M. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=vmcm. Accessed 1/14/2010.
- Brandt LJ. Vascular lesions of the gastrointestinal tract. In: Feldman. Sleisenger & Fordtran's Gastrointestinal and Liver Disease, 8th ed. Philadelphia, PA: Saunders; 2006;
- Morelli JG. Vascular disorders. In: Kliegman. Nelson Textbook of Pediatrics, 18th ed. Philadelphia, PA: Saunders; 2007;