Living with Familial multiple nevi flammei
An inherited birthmark condition with flat, reddish-purple patches (port-wine stains) caused by widened tiny blood vessels.
Understanding Familial multiple nevi flammei
The affected skin is flat and reddish-purple. It is present from birth, and several family members can have it.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Port-wine stain (nevus flammeus)
- Flat dark or irregular patches of skin
- Small raised bumps (papules)
- Abnormal tangles of blood vessels (arteriovenous malformation)
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 and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in GNAQ 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); 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 Children's Skin Disease Foundation
- 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 GNAQ gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: capillary malformations, congenital, 1, somatic, mosaic; familial multiple port-wine stains; nevi flammei; nevus flammeus; port wine birthmark; port wine nevus
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Familial multiple nevi flammei.
Explore research for Familial multiple nevi flammei
Explore actively recruiting Familial multiple nevi flammei studies with HealthSpark.
Find actively recruiting studies for Familial multiple nevi flammei with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Familial multiple nevi flammei studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Familial multiple nevi flammei
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Familial multiple nevi flammei experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.