Living with Multiple cutaneous and mucosal venous malformations
An inherited condition with bluish patches on the skin and the lining of the mouth and nose caused by poorly formed veins.
Understanding Multiple cutaneous and mucosal venous malformations
The patches appear on the skin and on the lining of the mouth and nose. They can be painful, especially when they extend into muscles and joints or when a calcium deposit forms and causes swelling. Most people are born with at least one. The patches usually grow over time and new ones often appear. Size, number, and location vary, even within a family.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Bluish patches on the skin
- Patches on the lining of the mouth and nose
- Pain, especially if patches reach the muscles or joints
- Swelling when a calcium deposit forms
- Patches that grow, with new ones appearing over time
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 genetic 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.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
This condition is caused by changes in the TEK gene. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: cutaneous and mucosal venous malformation; mucocutaneous venous malformations; multiple cutaneous and mucosal venous malformation; multiple venous malformation of skin and mucous membrane; vmcm
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple cutaneous and mucosal venous malformations.
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