What is Neurofibromatosis?

Neurofibromatosis is a genetic condition that creates benign (non-cancerous) or malignant (cancerous) tumors on nerve tissues throughout the nervous system, including the brain, spinal cord, and nerves.

Abnormal increases in cell proliferation are the root cause of many diseases. As a result of this process, tumors appear all over the body. These tumors can grow on nerves, in particular, creating issues with the skin, bones, eyes, and other organs.

There are three types of neurofibromatosis:

• Neurofibromatosis 1 (NF1): It is caused by a mutation in the NF1 gene on chromosome 17, which results in the lack of neurofibromin and uncontrolled cell development.
• Neurofibromatosis 2 (NF2): It is caused by a mutation in the NF2 gene on chromosome 22, which results in merlin loss and uncontrolled cell proliferation.
• Schwannomatosis: Only two genes have been identified that cause this rare disorder.

Treatment for neurofibromatosis in India focuses on promoting healthy growth and development in children with the disorder, as well as early care of problems. Surgery can help people with neurofibromatosis who have big tumors or tumors that put pressure on a nerve. Other treatments, such as stereotactic radiosurgery or pain medicines, may be beneficial to some people. Children’s tumors can now be treated with new medicine, and other novel treatments are in the works. 

What are the signs and symptoms of Neurofibromatosis?

Neurofibromatosis is divided into three categories, each with its own set of signs and symptoms:

Neurofibromatosis 1 – Neurofibromatosis type 1 (NF1) is most commonly diagnosed in children. Signs are frequently visible from birth or shortly thereafter, and almost usually by the age of ten. The signs and symptoms are usually mild to moderate, but the severity might vary.

The following are some of the signs and symptoms of NF1:

• Skin with flat, light brown patches
• Freckling in the genital area or armpits
• Little bumps on the eye’s iris.
• Soft, pea-sized lumps on or beneath the skin
• Deformities of the bones
• Tumor on the optic nerve
• Disabilities in learning
• Head size that is larger than average
• Small stature

Neurofibromatosis 2 – Neurofibromatosis type 2 (NF2) is substantially less prevalent than neurofibromatosis type 1. The development of benign, slow-growing tumors in both ears (acoustic neuromas), which can cause hearing loss, is frequently the source of NF2 signs and symptoms. These tumors, also known as vestibular schwannomas, develop on the nerve that transmits sound and balance information from the inner ear to the brain.

The signs and symptoms usually occur in the teenage years, and they can be mild or severe. The following are examples of signs and symptoms of neurofibromatosis 2:

• Gradual loss of hearing
• The ears are ringing.
• Uneven balance
• Headaches

Other nerves, such as the cranial, spinal, visual (optic), and peripheral nerves, can sometimes develop schwannomas as a result of NF2. Other benign tumors can develop in people with NF2.

These tumors can cause the following signs and symptoms:

• Numbness and weakness in the arms or legs
• Pain
• Balance difficulties
• Facial drop
• Vision problems or cataracts
• Seizures
• Headache

Schwannomatosis – Neurofibromatosis is a rare type of neurofibromatosis that mainly strikes persons when they reach the age of 20. Between the ages of 25 and 30, symptoms begin to show. Schwannomatosis causes tumors to form on the cranial, spinal, and peripheral nerves, but not on the nerve that transmits sound and balance information from the inner ear to the brain. Because tumors usually form on both hearing nerves, patients with schwannomatosis do not have the same hearing loss as those with NF2.

The following are some of the signs and symptoms of schwannomatosis:

• Chronic pain can affect any part of the body and can be debilitating.
• Numbness or weakness in various bodily areas
• Muscle atrophy

What are the Causes of Neurofibromatosis?

Neurofibromatosis is generally an autosomal dominant hereditary condition. This means that only one copy of a mutant gene is required to cause the disease, and patients’ children have a 50:50 chance of acquiring it.

In up to 50% of cases, neurofibromatosis is caused by a spontaneous mutation (change). The change in genes can be transmitted down to the following generation once it occurs.

Risk factors: A family history of neurofibromatosis is the most significant risk factor for the disease. About half of those with NF1 and NF2 got the condition from a parent who had it. People with NF1 and NF2 who have no affected relatives are likely to have a novel gene mutation.

How the diagnosis of Neurofibromatosis is done?

Your doctor will begin with a physical examination and a review of your personal and family medical history. Your doctor will look for brown patches on your skin, which can aid in the diagnosis of NF1.

If your doctor believes more tests are needed to diagnose NF1, NF2, or schwannomatosis, he or she may suggest:

• Examination of eyes: Cataract and vision loss.
• Balance and hearing exams: Audiometry is a test that evaluates hearing, and electrophysiology is a test that records your eye movements using electrodes (electronystagmography).
• Imaging Tests: X-rays, CT scans, and MRIs.
• Genetic tests: NF1 and NF2 tests are available and can be done throughout pregnancy before the baby is born. Inquire with your doctor about genetic counseling.

At least two symptoms of NF1 must be present in order to be diagnosed. If your child has only one symptom and no family history of NF1, your doctor will most likely keep an eye on him or her for any additional symptoms. NF1 is commonly diagnosed by the age of four.