Neurofibromatosis is a genetic condition that affects the nervous system. The condition causes tumors, called neurofibromas, to form anywhere in the nervous system, including the brain, spinal cord, and nerves. These tumors are usually non-cancerous, but in some cases, they can be cancerous. Mutation in certain genes is the cause of neurofibromatosis. There are multiple types of neurofibromatosis, and here we’re looking at symptoms of each type and exploring different treatment options.

Types and symptoms

Neurofibromatosis is categorized into three types, and different symptoms characterize each type.

Neurofibromatosis 1 (NF1)

NF1 is the most common type of neurofibromatosis. Signs and symptoms of NF1 are often seen in early childhood, in most cases, shortly after birth.

• Light brown spots on the skin, also called cafe au lait spots
• Freckles in the armpits or groin area
• Soft, tiny bumps on or under the skin
• Lisch nodules, or small brown spots on the iris of the eye

Neurofibromatosis 2 (NF2)

NF2 is less common than NF1 but more serious. People with NF2 often notice signs and symptoms in their late teenage years. The condition causes acoustic neuromas to form on nerves that go from the brain to the inner ear.

• A gradual loss of hearing
• Tinnitus or ringing in the ears
• Loss of balance
• Numbness and weakness in the limbs

Schwannomatosis

Schwannomatosis is a rare type of neurofibromatosis, with symptoms usually appearing between the ages of 25 and 30. In people with schwannomatosis, tumors form on the cranial, spinal, and peripheral nerves. Some common symptoms of schwannomatosis include the following.

• Intense chronic pain anywhere in the body
• Weakness or numbness in multiple areas of the body
• Loss of muscle

Treatment

Currently, there is no cure for neurofibromatosis. However, several treatments are available that can help manage specific symptoms of neurofibromatosis. Some common treatment options include the following.

Surgery

Surgery aims at removing all or parts of tumors to help improve symptoms. For example, in an individual with NF2, doctors perform surgery to remove acoustic neuromas to enhance their hearing.

Stereotactic radiosurgery

This procedure is often used for removing acoustic neuromas in people with NF2. It’s a non-surgical radiation therapy that directly targets the tumor.

It’s important to note that some neurofibromatosis symptoms, such as café au lait spots, do not require treatment. Doctors usually monitor such symptoms and prescribe medications only when it’s necessary.