Neurofibromatosis type 1

Symptoms

Neurofibromatosis type 1 (NF1) usually is diagnosed during childhood. Symptoms are seen at birth or shortly afterward and almost always by age 10. Symptoms tend to be mild to moderate, but they can vary from person to person.

Symptoms include:

• Flat, light brown spots on the skin, known as cafe au lait spots. These harmless spots are common in many people. But having more than six cafe au lait spots suggests NF1. They often are present at birth or appear during the first years of life. After childhood, new spots stop appearing.
• Freckling in the armpits or groin area. Freckling often appears by ages 3 to 5. Freckles are smaller than cafe au lait spots and tend to occur in clusters in skin folds.
• Tiny bumps on the iris of the eye, known as Lisch nodules. The iris is the colored part of the eye. These bumps can't easily be seen and don't affect vision.
• Soft, pea-sized bumps on or under the skin called neurofibromas. These noncancerous tumors usually grow in or under the skin but also can grow inside the body. A growth that involves many nerves is called a plexiform neurofibroma. Plexiform neurofibromas can cause visible changes on the face. Neurofibromas may increase in number with age.
• Bone changes. Changes in bone development and low bone mineral density can cause bones to form in an irregular way. People with NF1 may have a curved spine, known as scoliosis, or a bowed lower leg.
• Tumor on the nerve that connects the eye to the brain, called an optic pathway glioma. This tumor usually appears by age 6. The tumor rarely appears in late childhood and among teenagers, and almost never in adults.
• Learning disabilities. It's common for children with NF1 to have some trouble with learning. Often there is a specific learning disability, such as trouble with reading or math. Attention-deficit/hyperactivity disorder (ADHD) and speech delay also are common.
• Larger than average head size. People with NF1 tend to have a larger than average head size due to increased brain volume.
• Short stature. People who have NF1 often are below average in height.

When to see a doctor

See a healthcare professional if you or your child has symptoms of neurofibromatosis type 1. The tumors are often not cancerous and are slow growing, but complications can be managed. If you or your child has a plexiform neurofibroma, a medicine is available to treat it.