What is Neurofibromatosis Type 1?

Neurofibromatosis Type 1 (NF1) is a genetic condition that affects the growth of nerve tissue. NF1 happens because of a change in the NF1 gene, which helps control cell growth. It can cause changes in skin color and tumors to form along nerves throughout the body. Most of these tumors are noncancerous, but some may lead to health problems depending on where they grow.

NF1 may be inherited from a parent or happen through a new genetic mutation with no family history. Symptoms and complications can vary widely from person to person, so ongoing medical care is important.

Symptoms

NF1 affects everyone differently. Some people have mild symptoms, while others may develop more serious complications over time.

Common signs and symptoms include:

• Light brown skin patches called café-au-lait spots
• Freckling in the underarms or groin
• Soft bumps on or under the skin
• Vision problems caused by tumors near the optic nerve
• Curvature of the spine (scoliosis)
• Headaches or seizures
• Learning difficulties or attention problems
• Delays in growth or development

How is it diagnosed?

Healthcare providers diagnose NF1 by reviewing symptoms, medical history, and family history. A physical exam can help identify skin changes, tumors, or bone differences linked to the condition.

Additional testing may include:

• Neurologic exams
• Eye exams
• MRI or other imaging tests
• Genetic testing

Because some symptoms appear gradually, diagnosis may take time, especially in young children.

How is it treated?

Treatment for NF1 depends on the symptoms and areas of the body involved. Many people benefit from regular monitoring to watch for changes or complications.

Treatment options may include:

• Routine follow-up visits and imaging
• Medicines for headaches, seizures, or pain
• Surgery to remove tumors causing pressure or discomfort
• Physical, occupational, or speech therapy
• Educational support for learning challenges

In rare cases, a tumor may become cancerous and require more advanced treatment such as chemotherapy or radiation therapy.

NF1 is a lifelong condition, but many people can live active and independent lives with ongoing care and support.