Neurofibromatosis is a progressive disease in which the nervous system
and skin are affected as well as other parts of the body such as the eyes, ears, and bones in the legs. Neurofibromatosis
is also known as Recklinghausen's disease or abbreviated by NF1 or NF2 (depending on severity). It is an autosomal dominant
trait. It can also be a spontaneous mutation in familes who do not have a history with the disease. If any of the following
symptoms appear, consult a physiciation who has experience with handling the disease.
Symptoms
Tan patches on the skin are the most common symptom. Usually more than 5 patches
which are bigger then 1.5 cm in diameter. Small rubbery lesions on the skin appear, and freckles in the armpit and groin become
visible. Also, visual defects and bone weakness are all signs of this sad disease. In more severe cases, crain tumors and
comsetic deformities may occur. In children with NF1, some neurological complications including tumors in the brain and on
the spinal cord.
Who does NF1/NF2 affect?
Neurofibomatosis is a common disorder which occurs in about every 1/400 people. It
can affect any age, and is a heavy burden. The physical deformities that accompany this disease can cause the person with
it to be looked down upon and become an outcast to society. However, this is not always the case, most people are very understanding,
just a little surprised at the site of the person with NF1/NF2. Externally, this disorder's affects are mainly the discolored
patches of skin, and tumors that create a bump on the body. Internally, bone defects and smaller tumors are
present. Psychologically, the victims usually has some mental problems due to tumors in the brain and on the spinal
cord. The people struggling with this disease often have disorders such as ADHD, but the physical problems aren't usually that
bad. There is a chance of blindness, high blood pressure, and loss of nerve function.
Testing
Patients are normally diagnosed with neurofibromatosis based on physical
findings. The tan patches are a huge tip off to doctors. Genetic testing can be done to see if your child is likely to be
born with NF1/NF2.
Cures and Treatment
There is no specific treatment for this particular disease, however the
tumors can be removed if needed, special schooling can be provided, and annual eye exams are recommended by doctors. An experimental
treatment is being investigated, but not being used at present.
