What is Neurofibromatosis?

A genetic disease that negatively affects the skin and nervous system (including the brain and spinal cord) is called neurofibromatosis. Doctors often suspect this condition when a person has more than 6 café au lait birthmarks on the skin. This condition occurs due to a genetic mutation that may be passed from biological parents or occur randomly during conception. Furthermore, approximately 50% of people with neurofibromatosis do not have a family history of the disease.

Some types of neurofibromatosis are common, while others are not. For example, neurofibromatosis type 1 occurs in about 1 in every 3,000 births in the whole world. The NF type 1 accounts for about 96% of all diagnosed neurofibromatosis cases. The second type of this condition accounts for 3% and 1% of all neurofibromatosis cases, which are schwannomatosis.

Types of Neurofibromatosis

In general, there are 3 types of neurofibromatosis. For example:

Neurofibromatosis type 1 (NF1) – This type causes café au lait spots on the skin, nerve tumors (neurofibromas), bone deformities (such as scoliosis), groin and armpit freckles, and eye nerve tumors. Moreover, it is the most common type of this disorder.
NF2-related Schwannomatosis (previously known as neurofibromatosis type 2 or NF2) – This type of the disease accounts for about 3% of all diagnosed neurofibromatosis cases, and it often causes hearing and vision changes (such as cataracts) and peripheral neuropathy (such as numbness or weakness).
Schwannomatosis (SWN) – This is the rarest form of neurofibromatosis, and it includes a few subtypes, depending on specific genetic mutation (including SMARC-B, LZTR, or XXX). Sometimes, SWN does not cause any symptoms, but some genetic mutations may cause slow-growing tumors on one part of the body. When they appear, you may experience chronic pain, numbness, and tingling in the fingers and toes, and other symptoms.

Symptoms

People with this condition often experience different symptoms because it depends on several factors. These include the type and severity of the condition, overall health, age, and others. Check the most common symptoms below:

Tumors – These are specific masses made up of an abnormal cluster of cells. In most cases, these tumors are benign (noncancerous) and grow slowly.
Skin growths – For example, birthmarks, like café au lait spots, or freckles. These growths often appear in the armpits and groin area. In some cases, people may also notice small and soft bumps on the skin (called cutaneous neurofibromas).

However, this condition may also cause other less common symptoms. These include:

Vision and hearing problems
Scoliosis (spine curvature)
Muscle weakness
Tingling or numbness
Pain and headaches
Behavioral changes (such as attention-deficit/hyperactivity disorder)
Learning difficulties
Seizures

Immediately contact your doctor if any of the symptoms listed above occur.

What Does Neurofibromatosis Look Like?

This condition looks different for each person. While some people may have small and round bumps (about 1 centimeter) on the skin (neurofibromas), others may develop more small or one large skin growth that forms multiple nerves under the skin (also known as plexiform neurofibroma).

Some people may also notice café au lait spots on the skin. These are specific light-to-dark and flat birthmarks that range in size and shape. Doctors often suspect neurofibromatosis when a person has more than 6 of these birthmarks. Furthermore, this genetic disorder may also cause freckles in the armpits and groin area.

Causes and Risk Factors

This condition occurs due to a genetic mutation (change). For example:

Neurofibromatosis type 1 (NF1) – NF1 is a specific gene that regulates neurofibromin protein production. This protein helps suppress tumors.
NF2-related schwannomatosis/neurofibromatosis type 2 (NF2) – This gene is also known as merlin (NF2), and it regulates another neurofibromin protein that also suppresses tumor growth.
Schwannomatosis – This type of neurofibromatosis occurs when you have changes in the SMARCB or LZTR1 genes. In most cases, doctors cannot identify what exactly has caused schwannomatosis.

When a mutation occurs in one of the previous 4 genes, the proteins do not have the proper instructions required to regulate cell growth. As a result, it allows the tumor to develop. The genes NF1 and NF2 can be inherited from one of your biological parents in an autosomal dominant pattern. Even only one abnormal gene from one parent may cause neurofibromatosis. However, about 50% of people who were diagnosed with this condition do not have a family history of the disease. In such cases, genes mutate spontaneously (randomly) during conception. For example, approximately 85% of all diagnosed NF2 cases occur without a family history of the disease.

While anyone may develop neurofibromatosis, the risk of developing it significantly increases in people with a family history of the disease.

What Are The Long-term Effects of Neurofibromatosis?

People with this genetic disorder may also experience some complications, especially if they leave it untreated. Examples include:

Vision loss (blindness)
Hearing loss (deafness)
Chronic pain
Behavioral and learning problems
Low self-esteem due to skin issues
An increased risk of certain cancers (including breast and soft tissue cancer)
Cardiovascular disorders (including hypertension, congenital heart defects, and others)
Mental health problems – These include anxiety, depression, social isolation, and others
Epilepsy

The document does not contain a full list of complications. However, you can consult with your healthcare professional about ways to reduce the risk of developing them. In addition, this condition cannot be prevented because it occurs during conception. It means that when you get the abnormal gene from one of your biological parents, or it mutates spontaneously. You can also perform some genetic tests to make sure you do not have these abnormal genes before pregnancy. Generally, it is very important to understand the risks of having children with neurofibromatosis.

Diagnosis

First, physicians will perform a physical examination to check for abnormalities linked to the disease. Therefore, they may ask some questions about the symptoms and your family history to get more information. However, it can be difficult to diagnose this condition because some symptoms are similar to those of other diseases. To confirm or rule out this disorder, doctors may perform the following tests. For example:

Imaging tests – The following tests are used to determine the exact location and size of the tumor. They often perform MRI (magnetic resonance imaging) scans, X-rays, or CT (computerized tomography) scans.
Genetic test – During this test, doctors will take a small sample of your blood for testing. They will check for the abnormal genes that cause this condition.

In some cases, people are diagnosed years after their first symptoms.

Treatment

Usually, people with neurofibromatosis need a healthcare team to ease the symptoms and improve their quality of life. These include ENT surgeons, physical therapists, audiologists, ophthalmologists, genetic counselors, and others. Check some treatments that are often prescribed by doctors for people with this genetic condition below:

Surgery – During this procedure, surgeons will remove the tumor and affected parts of the skin.
Medicines – There is a medicine (Selumetinib) that is approved by the FDA (Food and Drug Administration) for neurofibromatosis treatment. It can be used in people between the ages of 2 and 18 who have neurofibromatosis type 1-related plexiform neurofibroma when surgery is not an option.
Reconstructive surgery – This procedure is used for people with scoliosis, bone growth abnormalities, and other structural problems. In more severe cases, physicians may recommend a brace.
Chemotherapy – This is a cancer treatment that involves strong medicines to destroy cancerous cells throughout the body. Usually, people get it intravenously (IV), but a pill form is also available.
Radiation therapy – This is another cancer treatment that uses powerful energy beams to destroy the tumor. The energy used during this therapy often comes from protons or X-rays, but may also come from other sources. Doctors often recommend this treatment for people with breast cancer, soft tissue cancer (also known as sarcoma), malignant peripheral nerve sheath tumors (MPNST), or glioma (a brain tumor).

The previous treatments may cause some adverse reactions, including bleeding, nerve damage, infections, and others. Do not hesitate to contact your doctor if any of them occur.

Frequently Asked Questions

At what age does neurofibromatosis appear?

In some cases, the symptoms of this condition can be present at birth. Most of the time, the symptoms appear during teenage years, but it depends on the type and severity of the condition. For more details, discuss it with your physician.

What is the life expectancy of someone with neurofibromatosis?

While most of the time, this condition does not affect lifespan, serious complications (such as cancer) may reduce your life expectancy.

Can neurofibromatosis be cured?

Unfortunately, there is no way to cure this disorder. That’s why the treatment goal is to relieve the symptoms and improve your quality of life. If you think you or your child has symptoms of neurofibromatosis, do not hesitate to see a doctor. If you have any other questions, ask your healthcare provider.