Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for blue rubber bleb nevus is limited due to its rarity, affecting fewer than 1 in 100,000 individuals worldwide. This extreme rarity restricts the availability of systematic clinical studies and comprehensive phenotype characterizations. Additionally, the lack of identified genetic causes further complicates research efforts, leaving many aspects of the condition poorly understood.
To navigate the complexities of blue rubber bleb nevus, consider seeking a specialist in vascular anomalies or a geneticist with experience in rare syndromes. While there are currently no patient organizations specifically for BRBNS, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in clinical trials as a way to access cutting-edge research and support. Genetic counseling may also be beneficial for understanding the implications of the autosomal dominant inheritance pattern.
Currently, there are two active clinical trials investigating blue rubber bleb nevus. While no orphan drugs have been designated for this condition, participation in clinical trials may provide access to potential new treatments and contribute to the understanding of BRBNS. For more information on these trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=blue%20rubber%20bleb%20nevus.
Actionable guidance for navigating care for blue rubber bleb nevus
To navigate the complexities of blue rubber bleb nevus, consider seeking a specialist in vascular anomalies or a geneticist with experience in rare syndromes. While there are currently no patient organizations specifically for BRBNS, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in clinical trials as a way to access cutting-edge research and support. Genetic counseling may also be beneficial for understanding the implications of the autosomal dominant inheritance pattern.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for blue rubber bleb nevus is limited due to its rarity, affecting fewer than 1 in 100,000 individuals worldwide. This extreme rarity restricts the availability of systematic clinical studies and comprehensive phenotype characterizations. Additionally, the lack of identified genetic causes further complicates research efforts, leaving many aspects of the condition poorly understood.
To navigate the complexities of blue rubber bleb nevus, consider seeking a specialist in vascular anomalies or a geneticist with experience in rare syndromes. While there are currently no patient organizations specifically for BRBNS, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in clinical trials as a way to access cutting-edge research and support. Genetic counseling may also be beneficial for understanding the implications of the autosomal dominant inheritance pattern.
Currently, there are two active clinical trials investigating blue rubber bleb nevus. While no orphan drugs have been designated for this condition, participation in clinical trials may provide access to potential new treatments and contribute to the understanding of BRBNS. For more information on these trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=blue%20rubber%20bleb%20nevus.
Actionable guidance for navigating care for blue rubber bleb nevus
To navigate the complexities of blue rubber bleb nevus, consider seeking a specialist in vascular anomalies or a geneticist with experience in rare syndromes. While there are currently no patient organizations specifically for BRBNS, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in clinical trials as a way to access cutting-edge research and support. Genetic counseling may also be beneficial for understanding the implications of the autosomal dominant inheritance pattern.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for blue rubber bleb nevus is limited due to its rarity, affecting fewer than 1 in 100,000 individuals worldwide. This extreme rarity restricts the availability of systematic clinical studies and comprehensive phenotype characterizations. Additionally, the lack of identified genetic causes further complicates research efforts, leaving many aspects of the condition poorly understood.
To navigate the complexities of blue rubber bleb nevus, consider seeking a specialist in vascular anomalies or a geneticist with experience in rare syndromes. While there are currently no patient organizations specifically for BRBNS, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in clinical trials as a way to access cutting-edge research and support. Genetic counseling may also be beneficial for understanding the implications of the autosomal dominant inheritance pattern.
Currently, there are two active clinical trials investigating blue rubber bleb nevus. While no orphan drugs have been designated for this condition, participation in clinical trials may provide access to potential new treatments and contribute to the understanding of BRBNS. For more information on these trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=blue%20rubber%20bleb%20nevus.
Actionable guidance for navigating care for blue rubber bleb nevus
To navigate the complexities of blue rubber bleb nevus, consider seeking a specialist in vascular anomalies or a geneticist with experience in rare syndromes. While there are currently no patient organizations specifically for BRBNS, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in clinical trials as a way to access cutting-edge research and support. Genetic counseling may also be beneficial for understanding the implications of the autosomal dominant inheritance pattern.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.