Neurofibromatosis Essay

These tumors can occur any. where in the nervous system, this includes the brain, nerves, the spinal cord, skin, and many more of the body’s systems. These tumors tend to be benign or in other words they are non-cancerous. The development of these benign tumors may cause skin and or bone abnormalities.

These tumors, also known as neurofibromas, form on nerves long the body and they also form underneath the skin. As the tumors increase in size, they may press against vital sections Of the body causing abnormalities in bodily functions. This disorder is usually diagnosed during early childhood and around early adulthood. Neurofibromas usually appear first in children but they can cease to occur until one reaches adolescence. It can occur during infancy but it most often occurs in children between the ages of three and sixteen years old.

This disorder is a genetically determined disorder and it affects approximately 1 00,000 Americans as of right now. Out of every 3,000 people, ne of those people have neurofibromatosis. There are three different types as classified by scientists, neurofibromatosis type 1 (NFI ), neurofibromatosis type 2 (NF2), and Schwannomatosis. Neurofibromatosis has affected more people than diseases such as muscular dystrophy, cystic fibrosis, and Huntington’s disease combined. Since this is a genetic disorder one will either inherit it from a parent who has neurofibromatosis, or it will occur due to a mutation in the egg or sperm.

For every child of an affected parent who has NFI or NF2 there is a 50% chance that the child will be positive for the isorder. However for schwannomatosis there is only a chance of a child inheriting the disorder. Further research for cures of neurofibromatosis has been going on for about eighteen years and it was started by the Children’s Tumor Foundation. The disease is worldwide and it affects all races, both sexes, and it can appear in nearly any family. In certain cases of the disorder, one may develop cancerous (malignant) tumors. Although statistics show that malignant tumors only occur about 3% to 5% of the time.

These tumors begin on the myelin sheath, the covering on the nerves. Most people with eurofibromatosis only experience mild symptoms. The first signs and symptoms of neurofibromatosis are the presence of cafe au lait spots. These spots do not itch or hurt, they are just pigmented spots on the skin, they can even be considered freckles depending on their size. They can be found any. vhere from your face to your groin area. However other signs and symptoms may include severe pain, severe disabilities, learning impairments, hearing loss, vision loss, and complications of the heart and blood vessels due to the compression of tumors.

The signs and symptoms for each disease lassification are different and they may include much more severe symptoms. For Neurofibromatosis type 1 the beginning signs are the presence of cafe au lait spots as said before. These spots usually appear in early childhood. The spots may also increase in size and amount of spots present on the skin can also increase. There also may be other changes in skin pigmentation and tumors could OCCUr on the brain, skin, and many other parts of the body. Signs and symptoms may be different among those who have the disease.

The tumors I spoke of usually occur during adolescence and early adulthood. People who have these tumors may have an increased chance of developing cancer, leukemia, or brain tumors. In children an abnormality called Lisch nodules may appear in the iris. These nodules do not effect vision, but if a tumor were to occur on the optic nerve the patient wouldn’t be as lucky. These tumors that form on the optic nerve are called optic gliomas, they may reduce vision or they could cause vision to be gone completely. In some special cases optic gliomas may cause no harm.

Other signs and symptoms for neurofibromatosis type 1 may include acrocephaly, hypertension, cardiovascular problems, osteoporosis, and also scoliosis. Unusual complications such as strokes, hydrocephalus, and epilepsy have a 60% of occurring in an individual affected by the disease. Patients may also suffer anxiety and stress due to physical changes on their bodies. Some children may suffer bone abnormalities due to the disease that cause fractures that may not heal and bowing of the legs. of those who have neurofibromatosis develop malignant tumors.

Changes in hormones such as pregnancy and puberty can cause these tumors to multiply. Pregnant women ho have these tumors need to see a doctor who is familiar with neurofibromatosis type 1, even if the pregnancy is going well and everything seems to be healthy. These tumors need to be watched very carefully in order to detect changes. The earlier a change is detected, the better the probability for treatment. Neurofibromatosis type 1 occurs in one person out of 4,000. The NFI gene is located on chromosome 17. The gene for NFI tells the body to create a protein called neurofibromin.

This happens in nerve cells, oligodendrocytes, and Schwann cells. This protein pretends to be a tumor suppressor, it ceases ell growth and division to control further cell growth and slow it down. If the NFI gene is mutated, a version of neurofibromin that is nonfunctional will be produced, this protein cannot control cell growth and division. This is why tumors can occur on the nerves along any part of the body. Scientists still are unclear as to why other mutations cause Other signs and symptoms as I have described.

The tumors will only develop if two copies of the gene are present to activate their formation. This change in the second copy occurs in specialized cells around the nerves. If a person has neurofibromatosis type 1 it is unlikely that tumors (benign or malignant) will form. Treatment for neurofibromatosis type 1 includes surgery to remove the tumors, mostly this is done for cosmetic purposes. They also have to prevent any complications, and in some cases for children they may need to provide help with learning disabilities they may have developed.

Some of the complications that need to be treated are seizures, scoliosis, high blood pressure, tremors of the optic nerve, early or delayed puberty, and also speech impairments. Only 40% of people with NFI will suffer seizures. If the tumors that were developed happen to be cancerous other measure may need to be taken such as radiation, chemotherapy, or more complicated surgeries. Treatments for type 2 (which is explained in the next paragraph) include a surgery that removes the auditory nerve, this may cause complete hearing loss.

Also, there was and auditory brain stem implant that was approved by the FDA for people who lost their hearing due to NF2. This implant sends signals to the brain allowing you to make out certain sounds and speech. Other trials for medication are being conducted now so there will e more treatment options. Another type of neurofibromatosis is type 2, this is the type where non- cancerous tumors grow along the nervous system. These tumors can also be called vestibular schwannomas or acoustic neuromas.

Tumors like these develop on the auditory nerve, they can occur on other nerves. The most early symptoms of these tumors are recognized during early childhood or adolescence. These symptoms include tinnitus, loss of hearing, and issues with balancing. By the time a patient with NF2 reaches thirty years of age the tumors will have formed in both ears. If the tumors are present in other laces the symptoms will vary according to that place. If there are complications with these tumors one may experience vision changes, weakness in legs or arms, numbness, or hydrocephalus.

Complications may also cause cataracts, this can occur in one or both eyes often during earlier stages and childhood. Worldwide, there is only evidence of neurofibromatosis type 2 in every one out of 33,000 people. Obviously is it more rare than NFI , it is only seen in one of every 25,000 births. The gene for this type of neurofibromatosis is found on chromosome 22. Since scientists know the difference in the chromosomes hat each type lie on, it is easier to perform a genetic test to determine which form of the disease a person has. Also the diagnosis for type 1 and type 2 are very different.

For type 1 there must be cafe au lait spots, neurofibromas, Lisch nodules on the iris, some bone abnormalities, optic gliomas, family members with NFI , or freckles on the groin or underarms. To determine if one has type 2 there WOUld be vision loss or significant changes in hearing, imaging tests of the nerves in the ears, brain or spinal cord, and also history of NF2 in the family. The last type of neurofibromatosis is called shwannomatosis, this is the isease in which shwannomas are formed all over the body except for the vestibular nerve.

This is a very rare form of neurofibromatosis, it only accounts for 15% out of the different types. The main symptom associated with shwannomatosis is pain. As the schwannomas increase in size they put more pressure on nerves and other tissues. Some side effects to this pressure include weakness, numbness, and even tingling in the legs, fingers, and toes. People with this form of the disease do not form neurofibromas. Most tumors located on patients with schwannomatosis are in a single, specific spot. These spots may be the arms, legs, or a segment of the spine.

The amount of shwannomas that form on the body depends on the person so it varies between others. Unfortunately there isn’t a treatment for schwannomatosis, neither is there an accepted drug. The only option for treatment includes surgical therapy which is sometimes effective. When the tumors have been removed the pain usually ceases or even it disappears. Once tumors are removed, it is possible that new ones could still form. If surgery isn’t possible or is no longer an option, patients will be monitored and put on pain management in a pain anagement clinic.

In the more severe cases the amount of pain one must endure can stop them from working and even leaving the house. Some of the cases where patients only suffer mild pain are never diagnosed right away because most people who have it suffer significant amounts of pain. If you know someone who has neurofibromatosis, understand that it is a complicated thing to live with. It is very important that the right medical care and support are being provided for that person. Most patients have major anxiety now, but almost all patients live healthy lives even with the disease.