Overview
Blue rubber bleb nevus syndrome (BRBNS), also known as Bean syndrome, is a rare vascular disorder characterized by multiple venous malformations that primarily affect the skin and gastrointestinal (GI) tract, though they can occur in virtually any organ. The condition is named for the distinctive blue, soft, compressible, rubbery skin lesions that can range in size from a few millimeters to several centimeters. These lesions are present at birth or appear during early childhood and tend to increase in number and size over time. The gastrointestinal venous malformations are the most clinically significant feature, as they are prone to chronic bleeding that can lead to iron-deficiency anemia, which may be severe and require blood transfusions. The small intestine is most commonly affected, but lesions can occur throughout the entire GI tract. Venous malformations may also involve the liver, spleen, central nervous system, musculoskeletal system, lungs, and other organs. Skin lesions may be painful, particularly with changes in temperature or pressure, and can cause localized sweating. Some patients experience thrombosis within the malformations, which can lead to pain and, in rare cases, consumptive coagulopathy. Treatment of BRBNS is primarily supportive and symptom-directed. Iron supplementation and blood transfusions are frequently needed for chronic anemia. Endoscopic interventions, including sclerotherapy and laser photocoagulation, can be used to manage GI bleeding. Surgical resection of affected bowel segments may be necessary in severe cases. Pharmacological agents such as sirolimus (an mTOR inhibitor) have shown promising results in reducing the size and number of lesions and controlling GI bleeding in some patients. The condition is associated with somatic mutations in the TEK gene (encoding the TIE2 receptor), which plays a role in vascular development.
Also known as:
Clinical phenotype terms— hover any for plain English:
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
3 eventsSonablate — NA
The Hospital for Sick Children — NA
Boston Children's Hospital
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Blue rubber bleb nevus.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesSULFAMYLON
Rising Pharma Holdings, Inc.
Burn
Travel Grants
No travel grants are currently matched to Blue rubber bleb nevus.
Community
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Start the conversation →Latest news about Blue rubber bleb nevus
Disease timeline:
New recruiting trial: Lymphatic Anomalies Registry for the Assessment of Outcome Data
A new clinical trial is recruiting patients for Blue rubber bleb nevus
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Blue rubber bleb nevus
What is Blue rubber bleb nevus?
Blue rubber bleb nevus syndrome (BRBNS), also known as Bean syndrome, is a rare vascular disorder characterized by multiple venous malformations that primarily affect the skin and gastrointestinal (GI) tract, though they can occur in virtually any organ. The condition is named for the distinctive blue, soft, compressible, rubbery skin lesions that can range in size from a few millimeters to several centimeters. These lesions are present at birth or appear during early childhood and tend to increase in number and size over time. The gastrointestinal venous malformations are the most clinically
How is Blue rubber bleb nevus inherited?
Blue rubber bleb nevus follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Blue rubber bleb nevus?
Yes — 2 recruiting clinical trials are currently listed for Blue rubber bleb nevus on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Blue rubber bleb nevus?
9 specialists and care centers treating Blue rubber bleb nevus are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Blue rubber bleb nevus?
1 patient support program are currently tracked on UniteRare for Blue rubber bleb nevus. See the treatments and support programs sections for copay assistance, eligibility, and contact details.