Neurofibromatosis is a genetic disease in which there is the formation of tumors on nerve tissues. Cancer can form in any part of the nervous system. This includes the central nervous system; which is made up of the brain and the spinal cord. The nerves can also be affected. This disease can be diagnosed at any time, be it in childhood or adulthood. Neurofibromatosis is usually a benign tumor. However, there have been cases where they turn malignant. This disease often presents with mild symptoms. Although the symptoms of the disease are mild, it has some serious complications such as loss of hearing, cardiovascular disorders, eye problems, and severe pain. The focus of the treatment procedure is to make life comfortable for the patient and also to treat the symptoms as they arise. Surgery might be needed to be done if the tumor is large enough to compress nerves. Pain medications can be administered to people that are experiencing a lot of discomforts. Radiotherapy and chemotherapy would be done if the disease becomes malignant, Also, in cases of loss of hearing, a cochlear implant might be needed. There are three types of this disease. These are neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis. Those in stem cell business have also discovered that the malignant tumors contain stem cells, making it difficult to treat the disease.
What Are The Types And Symptoms Of Neurofibromatosis?
- Neurofibromatosis 1
This disease does appear in childhood. It presents early, even as soon as shortly at birth, shortly after birth, or at age 10. Below are some of the signs and symptoms of this disease at this stage;
- Café au lait spots: This presents as spots on the skin. They are harmless, and prevalent in many people. Having café au lait spots of more than six is a strong indication that the patient has neurofibromatosis 1. They do appear at birth, or in the first year of life, and then maintains some stability.
- Lisch nodules: These nodules can usually be found under the iris of the eye. They are harmless, and not easily detected. They do not affect vision in any way.
- Freckling in the axilla region: This ordinarily present at the ages of between three and five. The spots are usually smaller than that of café au lait. The difference is that the freckles tend to aggregate and appear in clusters.
- Neurofibromas: Neurofibromas usually develop in or under the skin. However, they can also develop inside the body. There have been cases where the neurofibromas grow on multiple nerves.
- Bone deformities: This disease can cause deformities primarily in the bones. This is because of the abnormal growth of the bones, and also an impairment in the bone mineral density. The patient might present with S-shaped vertebrae, also known as scoliosis, or bent leg also referred to as bow lower legs.
- Reduced stature: Children affected by this disease usually have a short height.
- Optic nerve tumor: The tumors usually develop at the age of 3. This is also known as ocular It is uncommon for this to occur in late childhood and adolescence. It never occurs in adults.
- Neurofibromatosis 2
The neurofibromatosis type 2 is less common, as compared to neurofibromatosis type 1. The signs and symptoms of the type 2 neurofibromatosis are mostly as a result of the development of non-malignant, slow-growing tumors in the two ears. This tumor is referred to as acoustic neuroma. The tumors grow on the nerves that are responsible for transmitting sound and balance from the inner part of the ear to the brain. Any compression or growth of the vestibulocochlear nerve will affect the way we hear and also change our balance. Below are the signs and symptoms of this disease;
- Progressive loss of hearing.
- Tinnitus: This can be described as a ringing sensation in the ears.
- Loss of balance: Patients lose their balance quickly, This is because of the growth of a tumor on the vestibulocochlear nerve.
Also, neurofibromatosis type 2 can also lead to the growth of tumors on nerves in other parts of the body. Examples of where this can occur include cranial nerves, spinal, optic and the peripheral nerves. Some of the signs and symptoms of the tumors are
- Facial drop: This is because of the compression of the nerves that control the facial muscles
- Eye problems: A commonly seen symptom is cataracts.
- Difficulty maintaining balance and so on.
This is a rare type of neurofibromatosis that predominantly affects people below the age of 20. The tumor grows on the skull, spinal nerves and also on the peripheral nerves. However, it does not grow on the vestibulocochlear nerve; the nerve that sends information from the inner part of the ear to the brain. Patients do not experience loss of hearing. This is because the tumors do not grow on the vestibulocochlear nerve. Some of the symptoms of this type of neurofibromatosis include loss of muscle and weakness in many parts of the body.
What Are The Causes Of Neurofibromatosis?
This is a genetic disease. It is an autosomal dominant disease. This means that only one copy of the abnormal gene is needed for the disease to develop. A child would have a 50% chance of having the disease if one of his/her parents carries the gene. However, the severity of the disease in non-dependent on that of the parents. It’s common for a child to have the mild neurofibromatosis type 1, even though the parents have the type 2.
What Are The Risk Factors Of The Disease?
The most critical risk factor for neurofibromatosis is a family history of the genetic disorder. More than half of people affected by this disease got it from their parents. The other cases that are not inherited are mostly due to new gene mutations.
How Is The Disease Currently Treated?
The disease cannot be cured. However, there are treatments that can be used to improve the signs and symptoms.
Stem cell therapy and Neurofibromatosis
Researchers are eager to tap into the unique features of stem cells in the treatment of this disease. Considering that some stem cells are pluripotent; that is they can transform into many types of cells. Malignant tumors contain stem cells, causing a lot difficulty in its treatment. There are hopes that if the characteristics of the stem cells are altered, there might be a reduction or total elimination of the disease.
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