Neurofibromatosis type 1, or NF1, is the most common of the neurofibromatoses. It’s a genetic condition that can cause a wide range of symptoms, but it doesn’t affect everyone in the same way. Living with NF1 means navigating unique health journeys, and our community is here to provide support, share knowledge, and connect you with the resources you need.
One in 2,500 people are born with NF Type 1.
Signs and Complications of NF1?
Below are SOME of the complications that may occur in NF1. Explore our library to learn more.
Flat, light brown birthmarks. Most people with NF1 have six or more of these. These are harmless and may fade a lot with age. Learn more.
Freckling in the axillary (underarm) or inguinal (groin) regions.
Harmless tiny bumps on the colored part of the eye (iris) that do not affect vision. These nodules can’t easily be seen.
These are soft, pea-sized bumps of varying sizes on (cutaneous) or under (subcutaneous) the skin. They may become more common with age and may cause pain, itching, or emotional discomfort. Cutaneous neurofibromas may be removed and MAY not grow back if an experienced doctor removes the entire fibroma.
Plexiform neurofibromas (PNs) grow in nerve bundles rather than on a single nerve. They form when a neurofibroma involves multiple nerve branches or bundles and grows along the nerve, spreading in a network‑like pattern. This is why they are often described as feeling like a bundle of tangled cords and why they can be difficult to remove surgically.
They may cause pain or impinge on organs. Ongoing monitoring is vital for plexiform neurofibromas, as approximately 10% to 15% may become cancerous over time.
Roughly half of those with NF1 experience difficulties with reading, math, or attention (ADHD).
Optic pathway gliomas (OPGs) occur in approximately 15% to 20% of children with NF1, often developing before age six. These are typically slow-growing, low-grade brain tumors that develop along the nerves connecting the eyes to the brain. They are frequently asymptomatic and may never require treatment.
Neurofibromatosis type 1 (NF1) can affect how bones grow and develop. Some people with NF1 may have low bone mineral density or bone changes such as scoliosis (curvature of the spine), bowing of the lower leg, or bones that fracture or heal more easily than expected.
Children and adults with NF1 often have a large head circumference called macrocephaly. This usually does not indicate any significant medical problem.
How is NF1 Diagnosed?
NF1 is typically diagnosed in childhood based on a physical examination. The signs and complications can vary greatly from person to person, even within the same family.
NF1 may often be diagnosed by a physician without the use of genetic testing if the patient has two or more of the following diagnostic signs:
- Six or more café‑au‑lait spots
- Two or more neurofibromas of any type, or one plexiform neurofibroma
- Axillary or inguinal freckling
- Two or more Lisch nodules
- Optic pathway glioma
- Distinctive bone abnormalities, such as sphenoid bone dysplasia or bowing/thinning of long bones, with or without pseudarthrosis
- A first‑degree relative (parent, sibling, or child) diagnosed with NF1
- Pathogenic variant in the NF1 gene (positive genetic testing)
If patients only have skin cafe-au-lait spots and axillary or inguinal freckling with their NF1, genetic testing may be required to rule out a different disorder called Legius Syndrome.
Causes and Inheritance
The condition is caused by a mutation in the NF1 gene, which normally produces a protein that keeps cells from growing too fast.
- Inheritance: About 50% of people inherit the gene from an affected parent.
- Spontaneous Case: The other 50% result from a random, spontaneous mutation in people with no family history of the disorder.
Management
There is currently no cure for NF1, but symptoms can be managed through:
- Regular Monitoring: Annual check-ups with a specialist to track tumor growth and blood pressure.
- Surgery: Used to remove tumors that cause pain or press on vital organs.
- Medication: Currently, targeted MEK-inhibiting drugs like selumetinib (Koselugo) or mirdametinib (Gomekli) are sometimes used to shrink specific large tumors (plexiform neurofibromas) in children and adults.
While some complications can be serious, most people with NF1 live healthy, productive lives with proper medical care.
Living and Thriving with NF1
Managing NF1 is a lifelong process of monitoring and care. Because it can affect many parts of the body, understanding the potential health considerations is key. If you are newly diagnosed, know that you have a whole community ready to support you.
Regular check-ups are essential for monitoring the different types of tumors associated with NF1.
- Cutaneous Neurofibromas: These are tumors on the skin. While typically not medically dangerous, they can be a cosmetic concern and sometimes cause itching or discomfort.
- Plexiform Neurofibromas: These tumors involve multiple nerves and can grow large, sometimes causing pain or other medical issues depending on their location.
- Optic Pathway Gliomas: These are tumors on the optic nerve. They occur most often in young children and require regular vision screenings.
- Malignant Peripheral Nerve Sheath Tumors (MPNSTs): In rare cases, plexiform neurofibromas can become cancerous. It’s important to report any new pain or rapid changes in a tumor to your doctor.
- Non-optic pathway gliomas: These are tumors that form in the brain, but not on the optic nerve. They can occur in both children and adults and, similar to optic pathway gliomas, may never need treatment. A very small number (about 1%) of gliomas may become malignant so it is important to report new weakness, seizures, severe headaches, vision changes or other unusual symptoms to your doctor.
Children and teens with NF1 can lead full, happy lives. Providing the right support at home and school can make all the difference. Key areas of focus include:
- Learning Support: About half of children with NF1 have some form of learning disability. Early intervention and school accommodations, like an IEP or 504 plan, can be incredibly helpful.
- Social-Emotional Health: Navigating social situations and building confidence is important. We offer resources and connections to help with challenges like bullying and making friends.
- Transitioning to Adult Care: As teens grow, helping them take ownership of their healthcare is a crucial step toward independence. We have guides to help families make this transition smoothly.
As people with NF1 get older, some health concerns become more of a focus. Proactive care and regular monitoring are vital for long-term well-being.
- Cancer Risk: Adults with NF1 have an increased risk for certain types of cancers, including MPNSTs, glioblastomas, and breast cancer. Women with NF1 should begin breast cancer screenings earlier than the general population.
- Bone Health: Issues like scoliosis, osteoporosis, and fractures can be more common in people with NF1. Monitoring bone density is often recommended.
- Vascular Issues: High blood pressure and other vascular conditions can be associated with NF1, making cardiovascular health an important part of ongoing care.
Finding Expert NF Care
Seeing doctors who understand the complexities of neurofibromatosis is one of the most important things you can do. A multidisciplinary NF clinic can provide comprehensive, coordinated care for you or your child. We can help you find experienced healthcare providers in your area.