Rare Nephrology News

Disease Profile

Blue rubber bleb nevus syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Childhood

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ICD-10

Q27.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Bean syndrome; Blue rubber bleb nevus; BRBNS

Categories

Blood Diseases; Congenital and Genetic Diseases; Heart Diseases;

Summary

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]

Symptoms

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.

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.

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

Cause

Currently the cause of blue rubber bleb syndrome is not known.[4][5][6]

Treatment

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]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

    Learn more

    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

          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; https://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; https://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;

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