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What is neurofibromatosis? -

Neurofibromatosis can refer to any of three neurological disorders that are grouped together as neurofibromatoses. All three of these conditions manifest as tumors growing along the body's nervous system, causing an array of different complications.

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Benign vs. malignant -

Most of the time, these tumors are benign. However, some tumors can be cancerous and malignant. Around 3-5% of people with a strain of neurofibromatosis will go on to develop cancer related to their tumors.

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Diagnosing neurofibromatosis -

The different types of neurofibromatosis can exhibit any number of symptoms. Most experts will look for signs on and under the skin, such as café-au-lait spots or inexplicable bumps.

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The different types of neurofibromatosis -

There are three distinct types of neurofibromatosis: neurofibromatosis 1 (NF1); neurofibromatosis 2 (NF2); and schwannomatosis. They differ from each other in a number of ways; most notably, individuals with NF1 begin to show signs at or shortly after birth, while NF2 and schwannomatosis usually don't produce symptoms until later in life.

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How common is neurofibromatosis? -

NF1 is relatively common as far as neurological disorders go; around 100,000 people in the United States alone live with NF1. NF2 and schwannomatosis, on the other hand, are much rarer.

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The perplexity of neurology -

Like any other neurological condition, neurofibromatosis is a little-understood and perplexing focus of study. Neurology is the final frontier of medicine, and what makes nerves and cells do what they do is still all-but-unknown to even the most knowledgeable experts.

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What causes neurofibromatosis? -

What we do know about neurofibromatosis is that it can be passed down through autosomal genetics, meaning that anyone with a parent who had or has neurofibromatosis has a 50% chance of developing the condition themselves.

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Genetic mutations -

Each of the three types of neurofibromatosis are caused by a mutation of their own specific genes. NF1, for example, is caused by a deformation of chromosome 17, which is supposed to help dictate and regulate cell growth. If chromosome 17 isn't functioning properly, the chances of a physical deformation, internal or external, grows dramatically.

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NF1 -

Chromosome 17 produces neurofibromin, and the NF1 mutation causes this protein's production to drop significantly. NF1 usually makes itself known in the early years of childhood, and sometimes right at birth.

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Risk factors -

As with all types of neurofibromatosis, the greatest risk factor in NF1 is a family history of the condition. If either parent has NF1, there's a 50% chance the child will inherit it.

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Skin spots and Lisch nodules -

Skin spots and benign Lisch nodule tumors are common symptoms of NF1. Usually, these spots and tumors are purely cosmetic, and don't cause the individual any physical pain.

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Optic glioma -

Optic gliomas are tumors, usually benign, that grow around the brain's optic nerve (which assists in vision). Optic gliomas caused by neurofibromatosis almost always appear before a patient's third birthday, but in rare cases have developed later. Surgeries for optic gliomas are largely successful, and only around 5% of children will go blind from an optic glioma.

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Trouble at school -

If neurofibromatosis tumors develop in the brain, they can cause learning disabilities of varying extremity. Usually these effects are mild though, and are often manifested as slowed speech or ADHD.

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Physical peculiarities -

Tumors caused by neurofibromatosis, when situated on top of nerves, can form as bumps underneath the skin. Sometimes these bumps are hardly noticeable, but in extreme cases they can cover a patient's entire body and cause extreme deformities.

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Bone deformities -

NF1 tumors can also have a disastrous effect on bone structure. Bowed legs, scoliosis, and larger-than-average skulls are common complications of neurofibromatosis.

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NF2 -

Neurofibromatosis 2, or NF2, develops in the body much later than NF1, usually in a person's late teens or early twenties. NF2 is far less common than NF1.

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Risk factors -

Genetics and family history are again the biggest risk factors when it comes to NF2, as it has a 50% chance of being passed down from parent to child. However, NF2 mutations occur spontaneously far less often than NF1 mutations.

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Late bloomers -

Usually, NF2 symptoms begin to develop on the cusp of adolescence and adulthood. In rare cases, though, the condition can lie dormant in a person's body for decades.

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Acoustic neuromas -

NF2 differs from NF1 in that its tumors usually develop as acoustic neuromas, around the vestibulocochlear nerves inside of the ears and near the cerebellum.

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Cerebellum concerns -

NF2 tumors grow very slowly, but over time they can have very serious consequences. If the cerebellum or the vestibulocochlear nerves are compromised, people with NF2 can permanently lose their hearing and their sense of balance.

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Headaches and seizures -

Headaches and seizures are other common occurrences related to NF2. These symptoms can be debilitating in extreme cases.

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Peripheral nerves -

NF2 tumors commonly affect the body's peripheral nervous system as it branches out from the brain stem. The peripheral system isn't protected by the spinal column like the central nervous system is, leaving it vulnerable and defenseless against tumors.

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Schwannomatosis -

The third and rarest strain of neurofibromatosis is known as schwannomatosis. It usually develops between the ages of 25 and 30.

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Schwannomatosis -

Schwannomatosis differs from NF1 and NF2 in that it is associated with some of the most severe chronic pain that someone with neurofibromatosis can experience. These tumors usually only grow on the outer reaches of the peripheral nervous system, far enough away enough from the spine and the brain to cause fewer issues with balance, hearing, or cognitive development.

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Pains in all shades -

While schwannomatosis might seem like the safest type of neurofibromatosis on some levels, the pain these tumors can cause is unrivaled by almost any other neurological disorder. Peripheral nerves taken over by schwannomatosis can be limited to one specific part of the body or can occur all over.

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Numbness and muscle loss -

If compromised nerves don't scream out in pain, they will commonly produce symptoms of numbness and muscle loss. These symptoms are often mild, but can also render a patient immobile.

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Is there a cure? -

It should be clear now that there is a lot experts already know about what neurofibromatosis is and what it does to the body. But is there a cure? Unfortunately, no cure has been discovered that can do away with these conditions.

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Treating neurofibromatosis -

Treatments for neurofibromatosis are generally lacking as well. Medicines and therapies can be prescribed to help with pain symptoms, and most other treatments are used to simply manage symptoms, not do away with them.

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Surgery and chemotherapy -

Sometimes, though, surgery and chemotherapy can be used to either remove tumors or stop their growth. Tumors can be removed surgically if they're not too intertwined with fragile nerves, and chemotherapy has proven helpful in reversing the development of optical gliomas.

Sources: (Mayo Clinic) (NINDS) (Cancer.Net)

See also: The most fascinating neurological conditions ever recorded

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