Living with Neurofibromatosis, type 1
A genetic condition with café-au-lait skin spots and tumors that grow along nerves, often noticed in early childhood.
Understanding Neurofibromatosis, type 1
Signs vary widely. Almost everyone has multiple café-au-lait spots (flat, darker patches of skin) starting in early childhood. Freckles in the underarms and groin appear later. Most adults develop neurofibromas, which are non-cancerous tumors on or under the skin or along nerves. Some develop cancerous nerve tumors. Lisch nodules on the iris don't affect vision. Optic gliomas may reduce vision.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Café-au-lait spots
- Freckles in the armpits and groin
- Neurofibromas (lumps under the skin)
- Lisch nodules in the eyes
- Attention deficit and learning differences
- Headaches
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, brain and nervous system specialists, cancer specialists and eye disease specialists.
- 3Consider genetic testing
Changes in NF1 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
Children's Tumor Foundation, Neurofibromatosis Midwest and Neurofibromatosis Network may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: Children's Tumor Foundation, Neurofibromatosis Midwest, Neurofibromatosis Network
- 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 Tumor 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
GARD lists changes in the NF1 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: multiple non-ossifying fibromatosis; neurofibromatosis 1; neurofibromatosis type 1; neurofibromatosis type i; neurofibromatosis, peripheral type; neurofibromatosis, type i
Patient organizations
- Children's Tumor FoundationNeurofibromatosis, type 1 · United States
- Neurofibromatosis MidwestNeurofibromatosis, type 1 · United States
- Neurofibromatosis NetworkNeurofibromatosis, type 1 · United States
- Neurofibromatosis NortheastNeurofibromatosis, type 1 · United States
- NF CollectiveNeurofibromatosis, type 1 · United States
- RASopathies NetworkNeurofibromatosis, type 1 · United States
- Littlest Tumor FoundationNeurofibromatosis, type 1 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Neurofibromatosis, type 1.
Explore research for Neurofibromatosis, type 1
Explore actively recruiting Neurofibromatosis, type 1 studies with HealthSpark.
Find actively recruiting studies for Neurofibromatosis, type 1 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 Neurofibromatosis, type 1 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 Neurofibromatosis, type 1
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 Neurofibromatosis, type 1 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.