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Neurofibromatosis: definition

Neurofibromatosis (NF) is a genetic disease affecting the nervous system.

People suffering with neurofibromatosis develop non-cancerous tumours along their nerves. These tumours are called neurofibromas. They consist of clusters of different types of cells, which appear on the nerves and surround them.

Neurofibromatosis can also cause a decolouration of the skin (called café au lait spots) and bone abnormalities. The disease equally affects men and women of all ethnic groups.

The cause of neurofibromatosis is related to genetic mutation –  modification of a person’s genetic heritage. There are two genes which trigger two different types of neurofibromatosis: neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). The NF1, formerly called von Recklinghausen disease, occurs more often than the NF2.

Neurofibromatosis is a genetic condition.  If one of the parents is the carrier of the NF gene, their child has a 50% risk to inherit the disease. Sometimes, the gene mutates spontaneously in someone who has no family antecedents of this condition. Once the gene has mutated, the neurofibromatosis can be transmitted to the next generation.

The difference between NF1 and NF2

People affected by NF1 can have the following symptoms: non-cancerous tumours under the skin; brown spots on the iris; bow legs, smallness of size or bone abnormalities, including scoliosis; freckles on the groin and underarm; tumours on the optic nerve; light brown spots on the skin called café au lait.

As NF1 affects the nervous system, it can cause learning disabilities, speech problems and delay in development. In some cases tumours can also affect the internal organs.

People with NF2 have tumours on the nerve which links the ear to the brain. These tumours are also called “schwannomas” and cause auditive difficulties. Among other complications related to the ear, it is necessary to mention dizziness, ringing in the ears (tinnitus) and problems with balance. The pressure of the tumours on other nerves can also trigger headaches, numbness of face and weakness of face muscles.

People affected by NF2 can also have tumours in other parts of the body, like in the brain or in the spinal cord. Contrary to NF1, NF2 patients do not have skin decolouration or freckles (or only a little). Cataracts can occur in younger patients and can provoke vision troubles or blindness.

Treatment and prevention

It is not possible to cure neurofibromatosis. The treatment is supposed to help manage symptoms. In rare cases of NF1 or NF2, where one tumour becomes cancerous, surgery and radiotherapy can be necessary.  The situation often becomes delicate, as the NF2 tumours can appear near the brain or the spinal cord. Moreover, the tumours can reappear even after the surgery. Non-cancerous tumours can be removed if they are painful, or for aesthetic reasons.

In case of NF1, it is possible to perform surgery to correct bone abnormalities. People affected by scoliosis can wear a corset in order to gain a better stability and support.

You can find more information on the Neurofibromatosis (NF) Forum.

Source : NHS

Neurofibromatosis on the forum

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