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Genetic and Rare Diseases Information Center (GARD)

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Blue rubber bleb nevus syndrome


Other Names for this Disease
  • Bean syndrome
  • Blue rubber bleb nevus
  • BRBNS
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Overview


Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines).  The malformed blood vessels appear as a spot or lesion called a nevus.  The underlying blood vessel malformations are present from birth even though the nevus may not be visible until later in life. The size, number, location, and severity of these malformations vary from person to person.  Affected areas on the skin can be painful or tender to the touch and may be prone to sweating (hyperhidrosis).  Nevi in the intestines can bleed spontaneously and cause anemia or more serious complications. Other symptoms vary depending on the organ affected. Treatment is tailored to the individual depending on the location and symptoms caused by the affected areas.[1][2][3][4]
Last updated: 11/14/2012

References

  1. Massoumi H, Patel S. Blue rubber bleb nevus syndrome. Gastrointestinal endoscopy. 2007;
  2. Brandt LJ. Blue rubber bleb nevus syndrome: Capsule endoscopy in a patient with GI bleeding. Gastrointestinal endoscopy. 2007;
  3. den Heijer T. Blue rubber bleb nevus syndrome. Neurology. 2007;
  4. Cherpelis BS. Blue rubber bleb nevus syndrome. eMedicine. August 2012; http://emedicine.medscape.com/article/1082839-print. Accessed 11/9/2012.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Blue rubber bleb nevus syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles