Neurofibromatosis (NF) is a cluster of genetic conditions that cause tumors to form in the brain, nerves, and spinal cord. Physically, this translates into bone deformities, hearing and vision loss, chronic pain, and other variations.

But as a rare, genetic condition, NF is shrouded in a lack of research and understanding. The cognitive aspects of NF, for instance, are still being explored — many people diagnosed with the condition have autism, behavior, and learning difficulties. There is no long-term treatment of NF as yet, but some people are able to lead unencumbered lives. In more severe cases, pain and deformity can cause disability.

Experts have also noted the condition may have a significant psychological impact on individuals’ self-esteem, relationships, and social interactions. “The pathway for each person affected by it is both different and unpredictable, and fear of what may happen is significant,” one person noted.

What is neurofibromatosis?

Neurofibromatosis is a rare genetic disorder. It causes benign tumors to form on the nerve tissue, which leads to growth and patches different parts of the body in the form of neurofibromas (soft, fleshy growths) on or under the skin. This includes skin lumps, warts, several café au lait spots (patches of brown or light skin), or freckles. In almost 3-5% of all cases reportedly globally, the condition can also cause cancerous tumors.

There are two major types of NF: neurofibromatosis type I (NF1) and neurofibromatosis type II (NF2). Type 1 is usually linked with causing bone deformities, high blood pressure, and learning disabilities. Neurofibromas “can arise on the skin, underneath the skin, or deep within the body. The tumors that form on the skin are benign and do not become cancers,” experts note. About 50-75% of people with NF1 are documented to have learning disabilities.

Type 2 is less common. It is a result of tumors on spinal and cranial nerves and is linked to hearing loss, vision loss, and having difficulty in maintaining balance. Each of these types represents a completely different condition, and people with NF1 do not develop NF2.

Recently, scientists may have found a third related condition, called Schwannomatosis. Preliminary research shows some similarities in symptoms, but scientists believe it is a distinct condition in itself.

Who is at risk of neurofibromatosis?

Since NF is hereditary, it is hard to identify an overarching criterion. NF1 is the most common out of the twotypes and occurs in approximately one out of every 3,500 births; NF2 occurs in approximately one out of every 40,000 births. Schwannomatosis affects one in 40,000 people and is known to occur mostlyin people above 30 years of age.

Cases of NF1 and NF2 are usually witnessed in people in their teens and 20s. “The NF2 outlook depends on your age at the start of the disease and on the number and location of tumors. Some can be life-threatening,” WebMD noted.

There is no particular gender or race marker that makes one more susceptible.

“There is nothing a person can do to prevent the formation or growth of neurofibromas. Certain foods, smoking, caffeine, and heat do not stimulate their growth,” physicians at the University of Washington in the U.S. and BJC Healthcare noted in a guide.

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What are the symptoms of neurofibromatosis?

The symptoms of NF vary depending on the type of the condition. Common signs for NF1 include:

• Several (usually six or more) café au lait spots
• Bone deformities, including a twisted spine (scoliosis) or bowed legs
• Tumors along the optic nerve, which may cause eyesight problems
• Tiny growths in the iris (colored area) of the eye (they don’t usually affect eyesight)
• Several freckles in the armpit or groin area
• High blood pressure
• Osteoporosis (weakening of bones)
• Learning disabilities
• Large head size
• Bleeding of neurofibromas that grow along the belt or bra line, on the hands and forearms, or on the ankles or feet

Since NF2 is linked to tumors on the cranial and spinal nerve, the first symptoms of NF2 are observed in the form of hearing loss in teens or people in their early 20s. Other signs include:

• Weakness of facial muscles
• Dizziness
• Poor balance and uncoordinated walking
• Cataracts (cloudy areas on the lens of the eye) that develop at an unusually early age
• Headaches

What causes neurofibromatosis?

As a genetic condition, the onset of NF is layered. It is often inherited (or passed on by parents through the genes), but recent cases have shown that it may occur spontaneously in people — with no family history of the gene — at conception due to gene mutations.

In cases where the gene is passed on from parents, the condition is called autosomal dominant inheritance pattern. Research has shown there is a 50% chance that each child of a parent with NF1 or NF2 will inherit the gene and develop the condition. In cases when the condition is a result of gene mutation, a person can pass the mutant gene on to future generations.

How NF is passed through genes works something like this: the NF1 gene in our body makes a protein called “neurofibromin” that controls cell growth. When the gene mutates (due to hereditary or other reasons), the neurofibromin loss causes uncontrolled cell growth that manifests outside and inside bodies.

The same is observed in Type 2 cases. The NF2 gene is responsible for making a protein called “merlin” or “schwannomin” that helps suppress tumors. Again, changes to this gene cause a loss of merlin and uncontrolled cell growth, leading to tumor growths.

With Schwannomatosis, two genes, LZTR1 and SMARCB1, have been identified as helping suppress tumors; there may be additional genes discovered in the future. “These genes are thought to help regulate cell growth and division. If these genes are not functioning properly, the cells may multiply excessively and form tumors,” Children’s Tumor Foundation noted. According to estimates, 15% of cases in schwannomatosis are inherited and the remaining are spontaneous.

Can neurofibromatosis be treated or cured?

Currently, there’s no cure for treating neurofibromatosis. “There is not enough research to know what we can do about these tumors. Because they grow on nerve endings, [the doctors] have found that if they remove a tumor, they tend to grow back and sometimes even multiply,” one expert noted.

The medical response is focused on controlling the symptoms. Some symptoms such as café au lait spots do not need treatment in itself. Other symptoms such as optic gliomas (brain tumors) are treated through chemotherapy, which is an option for when the tumors turn cancerous. Scientists say surgical removal of tumors on the skin is also an option once the risk involved are thoroughly assessed. Surgery is also advised for bone conditions such as scoliosis.

The most direct way of diagnosing NF is through keeping records of one’s family history and genetic testing. Other ways of identifying are physical examinations (to check for growths), regular CT scans, MRI, biopsies of neurofibromin (growths), and eye tests.

Doctors also recommend varying forms of physical and counseling therapy to cope with the pain and psychological impact. As a chronic condition, support groups for NF are also critical for long-term recovery.