Living with Blue rubber bleb nevus
A condition in which blood vessels form abnormally in the skin and organs such as the intestines.
Understanding Blue rubber bleb nevus
The malformed vessels appear as a spot (nevus). They are present from birth, even if the spot is not seen until later. Size, number, and location vary. Skin spots can be painful or tender and prone to sweating. Spots in the intestines may bleed and cause anemia or other complications.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blue-ish, rubbery skin spots
- Bleeding in the intestines
- Prolonged bleeding
- Bone pain
- Firm lumps under the skin
- Twisting of the bowel (volvulus)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include cancer specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in TEK are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Vascular Birthmarks Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Vascular Birthmarks Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Vascular Birthmarks Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the TEK gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: bean syndrome; blue rubber bleb nevus syndrome; brbn; brbns
Patient organizations
- Vascular Birthmarks FoundationBlue rubber bleb nevus · United States
- Children's Skin Disease FoundationSkin diseases · United States
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