Neurofibromatosis is a neurological disorder caused by a single gene mutation. It has an inheritance base from parents, but it can also mutate unexpectedly. It affects 1 in every 2500 newborns and strikes all genders, and ethnic groups equally.
There are two prevalent kinds of disorders, NF1 and NF2. NF1 occurs in children, whereas NF2 occurs in young to older adults.
Type 1 Neurofibromatosis (NF1)
NF1 also called von Recklinghausen’s disease, or peripheral neurofibromatosis. Chromosome 17 transmits the disease by mutation. It causes birthmarks or lesions to appear in different parts of the body. The lesions can be few or many thousands around the body on the surface or under the skin.
This is not the serious form of neurofibromatosis, although, it is possible that the lesions can become cancerous.
Type 2 Neurofibromatosis (NF2)
NF2, also called bilateral neurofibromatosis results mainly from a mutation of the NF2 gene. Chromosome 33 is responsible for the transmission of the mutation.
This form is more serious because tumors can form in the nervous system, and the spinal canal. There are acoustic tumors as well that can affect the hearing, and the sense of balance and body position. These symptoms can to late teens and individuals in their early 20’s.
Schwannomatosis
This is a rarer form of the disease. It has a different genetic marker from NF1 or NF2, and accounting for about 15% of the diagnosis for neurofibromatosis. Patients can have tumors that can cause them to experience severe pain, numbness, tingling, plus a weakness in the toes and fingers.
Cures and Treatments
At this time, there is no known cure for the disease. There are, however, some treatments for the symptoms of NF1 or NF2.
NF1
Neurofibromas are non-cancerous lumps on the skin and they are removable through surgery. Sometimes standard painkillers are available for treatment. Physical therapy can sometimes reduce the discomfort associated with the lumps.
Hypertension is another symptom that may develop with Nf1 making patients suffer from high blood pressure. Treatment is available through medication of lifestyle changes.
Optic gliomas is a tumor that affects the optic nerve, which sends signals to the eye. Surgery can remove the tumor if the patient’s eyesight is affected.
Scoliosis is a curvature of the spine and the treatment involves the patient either undergoes surgery or wears a back brace.
NF2
The first thing to do is to monitor the tumors regularly. If problems develop here are some possible treatments.
Acoustic neuromas are tumors that grow on the nerves to the ear. It is serious because surgery does not always improve hearing; sometimes, in fact, it is lost or worse after the operation.
Radiotherapy may shrink a tumor; but there is no guarantee that this will always be successful.
An ABI (auditory brain stem implant) may help hearing. In addition, most treatments involve the simultaneous removal of vestibulocochlear nerve tumors and placement of auditory brain stem implants.
For a person with a profound hearing problem a surgeon can place a cochlear implant after removing the tumor. The cochlear implant is a small, complex electronic device that can help to provide a sense of sound to a person with severe hearing problems.
A hearing therapist can assist the patient to address problems such as ringing in the ears as well as balance. Learning to lip read and use sign-language are also remedies available.
Schwannomatosis
Surgery can remove tumors that are causing pain or problems with vision or hearing. Chemical or radiation treatments may reduce the size of tumors. Medications and other treatments can manage pain, headaches, or seizures.
Complications
Both NF1 and NF2 can present their own set of physical complications.
NF1
For NF1 patients the most prevalent problems are eyesight and hearing, short-term memory, coordination, and plexiforms. The latter cause nerves to grow and become thick and misshapen. Other problems that can occur are epilepsy, skin tumors, scoliosis, hypertension, speech problems, and skeletal problems.
NF2
The problems associated with NF2 surround skin tumors, brain tumors, and spinal cord tumors.
Schwannomatosis
Some complications identified with this version of the disease deal with the difficulty in urinating or bowel dysfunction, , vision changes, general weakness, facial weakness, headaches, and lumps. In addition, swollen areas tend to aggregate where tumors form under the skin, and there is numbness.