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Neurofibromatosis is a genetic disease that usually passes in an autosomal dominant fashion from parent to fifty percent of children. It results in tumors growing in the nervous system, particularly in the supportive cells of the nervous system and in the myelin sheath, which is the thin membrane covering some nerves that help in nerve transmission. There are also skin changes noted in the disease called café au lait spots and bony deformities. About thirty to fifty percent of new cases arise spontaneously and are not a result of an autosomal dominant inheritance but can still pass it on to their own children later in life.

There are three types of neurofibromatosis. The first is neurofibromatosis type I or NF1. The second is neurofibromatosis type II or NF2. The third is called Schwannomatosis, once considered a type of NF2. The most common form of NF is NF1 and shows the café au lait spots on the skin that often show up by the age of 10 years. Often they are evident at birth. They are light brown leaf or round-shaped patches about a half inch to an inch in diameter. You can also see lesions or growths on the iris of one or both eyes and you can see tumours growing on the optic nerve. The spine, the tibia and the skull can grow abnormally.

NF2 is more rare and involves tumours growing on the eighth cranial nerve. This affects hearing. Cataracts can occur at an early age and there may be retinal changes and other tumors on various nerves. In Schwannomatosis, there are schwannomas on the 8th cranial nerve. This is a painful disorder because the schwannomas pushes on adjacent tissue and compresses nerves. There can be numbness, weakness or tingling of the fingers and the toes. The rarest type of neurofibromatosis is Schwannomatosis.

There is no cure for neurofibromatosis. The best treatment is one that removes painful or enlarged tumors. Some tumors of NF1 can become cancerous so that surgery, radiation and chemotherapy need to be performed to get rid of the cancer. If the optic nerve is affected, radiation may be necessary to save the vision. Chemotherapy is sometimes used in that situation.

In NF2, doctors use MRI scans to find the very smallest of tumors so they can be treated before the tumors become too painful. Some bony malformations can be corrected with orthopaedic surgery. Cataract surgery might need to be done.

There is no accepted treatment for Schwannomatosis; however, surgical management is one way of taking care of the lesions. There is genetic testing available for NF1 and NF2 but not for Schwannomatosis.

The prognosis of neurofibromatosis is fair. Most live long and normal lives but some can have debilitating lesions on the nerves requiring multiple surgeries. Damage to vital organs is always possible and this can adversely affect outcome. People with Schwannomatosis have significant pain, which affects their prognosis. The pain can be severe and debilitating in some cases, requiring chronic pain relief with narcotic medications.

Research is being done on neurofibromatosis. With regard to NF1, it has been found that there is an abnormal gene on chromosome 17 that causes the problem. This makes a protein called neurofibromin that is active in the nerve cells and affects nerve cell proliferation. The problem with NF2 is an abnormality in chromosome 22. This chromosome makes a protein called merlin. Other genes may also be involved in these disorders that have not become identified yet.

Neurofibromatosis is relatively common. It occurs in one in 3000 live births, which translates to more than 90,000 cases identified per year in the US or about ten patients per hour.

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Our personal injury solicitors operate a specialist medical negligence compensation service. Our Neurofibromatosis solicitors deal with claims using a no win no fee arrangement which means that if you don�t win then you don�t pay them their professional costs. If you would like legal advice at no cost with no further obligation just complete the contact form or email our lawyers offices or use the helpline and a Neurofibromatosis solicitor will review your medical negligence compensation claim and phone you immediately.