National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Blue rubber bleb nevus syndrome

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
Symptoms and severity of blue rubber bleb nevus syndrome varies greatly from person to person.  In general, blue rubber bleb nevus syndrome is characterized by skin spots (nevi) that may be few to hundreds in number. Size tends varies from millimeters to several centimeters in length. These nevi are made of blood vessels and are spongy, meaning they can easily be pressed upon.  When pressure is released, they refill with blood and regain their original shape.  They tend to be blue but can vary in color and shape. The surface of the nevi may be smooth or wrinkled and they often have a rubbery feel. They do not tend to bleed spontaneously, but are fragile and will bleed if injured. They may be tender to the touch. They may also be associated with increased sweating in the area of the skin legions. The number and size of legions may worsen with advancing age.[4] 

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.[1][2][5][6] Most bleeding from the gastrointestinal tract is slow[4]; 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.[4][7]  Nevi may also put pressure on joints, bones, or feet, which may make walking difficult or limit range of motion.

Last updated: 11/14/2012

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Arteriovenous malformation 0100026
Bone pain 0002653
Cavernous hemangioma
Collection of dilated blood vessels that forms mass
0001048
Prolonged bleeding time 0003010
Skin rash 0000988
Visceral angiomatosis 0100761
30%-79% of people have these symptoms
Abnormality of coagulation 0001928
Intestinal bleeding 0002584
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] 		0001482
Volvulus 0002580
5%-29% of people have these symptoms
Gastrointestinal infarctions
Death of digestive organ tissue due to poor blood supply
0005244
Microcytic anemia 0001935
Percent of people who have these symptoms is not available through HPO
Abnormality of the liver
Abnormal liver
Liver abnormality
[ more ] 		0001392
Abnormality of the mouth
Abnormal mouth
0000153
Abnormality of the respiratory system 0002086
Autosomal dominant inheritance 0000006
Cerebellar medulloblastoma 0007129
Chronic disseminated intravascular coagulation 0005520
Hemangioma
Strawberry mark
0001028
Hypermelanotic macule
Hyperpigmented spots
0001034
Intussusception 0002576
Iron deficiency anemia 0001891
Pathologic fracture
Spontaneous fracture
0002756
Rectal prolapse
Rectum protrudes through anus
0002035
Thrombocytopenia
Low platelet count
0001873
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Last updated: 7/1/2020
Currently the cause of blue rubber bleb syndrome is not known.[4][5][6]
Last updated: 11/14/2012
Treatment of blue rubber bleb nevus syndrome varies depending on the severity and location of the affected areas. Skin spots do not usually require treatment, but some individuals with this condition may want treatment for cosmetic reasons or if the location of the nevus causes discomfort or affects normal function. Bleeding in the intestines may be treated with iron supplements and blood transfusions when necessary.[1][2][3][4] Surgery to remove an affected area of bowel may be recommended for repeated or severe bleeding (hemorrhage).[7]
Last updated: 11/14/2012

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include vascular tumors, either benign (hemangiomas) or malignant (Kaposi's sarcoma, angiosarcoma); vascular anomalies associated with congenital or systemic diseases (Klippel-Trenaunay-Weber, Ehlers-Danlos, the CREST variant of scleroderma, and Osler-Weber-Rendu syndrome) and acquired and sporadic lesions (angiodysplasias, gastric antral vascular ectasia, radiation-induced vascular ectasias, and Dieulafoy's lesions) (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Blue rubber bleb nevus syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I 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? See answer


  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.
  5. Blue Rubber Bleb Nevus. Online Mendelian Inheritance in Man. May 10, 2012; https://omim.org/entry/112200.
  6. Boon LM, Vikkula M. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=vmcm. Accessed 1/14/2010.
  7. Brandt LJ. Vascular lesions of the gastrointestinal tract. In: Feldman. Sleisenger & Fordtran's Gastrointestinal and Liver Disease, 8th ed. Philadelphia, PA: Saunders; 2006;
  8. Morelli JG. Vascular disorders. In: Kliegman. Nelson Textbook of Pediatrics, 18th ed. Philadelphia, PA: Saunders; 2007;