Living with Capillary malformation-arteriovenous malformation 1
A condition of the blood vessels that causes pink skin marks and abnormal blood vessel connections present from birth.
Understanding Capillary malformation-arteriovenous malformation 1
It involves capillary malformations and arteriovenous fistulas (abnormal links between arteries and veins) that are present from birth. The capillary malformations increase blood flow near the skin. They usually look like large, flat, pink stains on the skin.
Signs & symptoms
Symptoms vary from person to person. GARD lists this among the most common:
- Capillary malformation (flat pink skin stain)
- Arteriovenous fistula
- Arteriovenous malformation
- Strawberry birthmark
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 bone and joint specialists, genetic specialists, hormone specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in RASA1 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Skin, hair, and nail specialists (dermatologists)
- 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 Klippel-Trenaunay Support Group 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 RASA1 gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: cmavm1; parkes weber syndrome; pkws
Patient organizations
- Klippel-Trenaunay Support GroupCapillary malformation-arteriovenous malformation 1 · United States
- Children's Skin Disease FoundationSkin diseases · United States
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