What is Neurofibromatosis?

This is a genetic disorder of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. Doctors have classified neurofibromatosis as neurofibromatosis type1 (NF1) and neurofibromatosis type2 (NF2). NF1 is the more common type of the neurofibromatosis.
Neurofibromatosis is also known as Von Recklinghausen's Disease

Causes of Neurofibromatosis:

There are two genetically distinct forms of neurofibromatosis. Genes are a chemical alphabet stored in the body. Genes contain the body’s ‘built-in’ plan to make sure all the parts of the body work correctly. If a gene has a misprint in the chemical alphabet then a part of the body may not work correctly. Sometimes, by chance, a new misprint occurs in the gene that causes neurofibromatosis. NF1 and NF2 are both autosomal dominant genetic conditions. They are however caused by two different genes developing misprints.

Symptoms of Neurofibromatosis:

Symptoms of NF1, particularly those on the skin, are often evident at birth or during infancy and almost always by the time a child is about 10 years old. In diagnosing NF1, we looks for changes in skin appearance, tumors, or bone abnormalities, and/or a parent, sibling, or child with NF1.
NF2 is less common, this is characterized by bilateral tumors on the eighth cranial nerve. The tumors cause pressure damage to neighboring nerves. To determine whether an individual has NF2, we looks for bilateral eighth nerve tumors and similar signs and symptoms in a parent, sibling, or child.

Diagnosis of Neurofibromatosis:

The diagnosis of this disorder is generally marked by physical findings. The cafe-au-lait spot (meaning literally the color of coffee with cream) is the hallmark of this disorder. Diagnosis of NF-1 requires that at least two of the listed signs are present. Diagnosis of NF-2 requires the presence of either a mass on the acoustic nerve or another distinctive nervous system tumor. An major diagnostic clue for either NF-1 or NF-2 is the presence of the disorder in a patient's parent, sibling, or child.

Treatment of Neurofibromatosis:

Treatments for both neurofibromatosis (NF-1 and NF-2) are currently aimed at controlling symptoms. Surgery can help some NF1 bone malformations and remove painful or disfiguring tumors. In several rare cases when tumors become malignant, treatment may include surgery, radiation or chemotherapy. For NF2, improved diagnostic technologies (such as MRI) can reveal tumors as small as a few millimeters in diameter, thus allowing early treatment.