Neurofibromatosis is a genetic disorder that affects the nervous system. It mainly interrupts and affects how the nerve cells develop. There are three types of neurofibromatosis. They include the;
- Type 1 Neurofibromatosis
- Type 2 Neurofibromatosis
This disease is caused by a genetic mutation of some genes. Majority of neurofibromatosis cases is due to heredity. Parents pass the mutated gene to their children, and that’s how the cycle keeps going. Some of the signs and symptoms of this disease include learning and behavioural problems. Others include skin disorders such as café au lait spots, neurofibromas, growths on the eye’s iris, and an abnormal growth of the spine. This disease has no cure yet, however surgical procedures can be done to remove the tumours. Other forms of therapies that can be used include radiotherapy and chemotherapy. Cochlear implants can be used for patients that present with hearing impairments. 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 in nature; that is they can transform into many types of cells. Malignant tumours contain stem cells, causing a lot of 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.
What Are The Causes Of Schwannomatosis?
Neurofibromatosis is a genetic disease that occurs right from birth, or shortly after birth. It occurs due to the mutation in the genes. As earlier mentioned there are 3 types of schwannomatosis, and each is caused by different gene mutations;
Neurofibromatosis Type 1: This type is caused by a mutation of the gene located on chromosome 17. This mutated gene leads to the loss of neurofibromin, which allows the cells to grow without any inhibition.
Neurofibromatosis Type 2: This occurs due to the mutation of the gene on chromosome 22.
Schwannomatosis: Research has shown that 2 genes are responsible for this type of neurofibromatosis.
What Are The Signs And Symptoms Of Neurofibromatosis?
The signs and symptoms of neurofibromatosis depend on the type the patient has. Below are the types of the disease, and the symptoms they might present with;
Neurofibromatosis Type 1
This type of the disease occurs mostly in childhood. Affected kids tend to present with signs and symptoms immediately after birth, or at birth. They eventually present with the symptoms before the age of ten. The severity of the symptom ranges from mild, moderate and severe. Below are some of the common signs and symptoms;
- Café au lait spots: Patients affected by neurofibromatosis type 1 tend to develop flat, light brown spots on their skin. The spots are usually harmless and are prevalent in a lot of people. However, having more than 6 spots is a strong indication for neurofibromatosis 1. They might appear at birth or during the before the kid turns five.
- Bone deformities: Patients do present with an abnormal bone growth. This occurs mostly as a result of the deficiency in bone mineral density, and could eventually lead to scoliosis. This is a condition in which the spine is curved, in the shape of an “S”.
- Optic glioma: This is a tumour of the optic nerve. This tumour usually starts developing at the age of 3. This condition does not occur in adults, and it’s also uncommon in late childhood, and adolescence.
- Delayed growth: Children affected by Neurofibromatosis type 1, tend to have a delayed and short stature.
- Learning problems: Children affected by neurofibromatosis tend to have learning disabilities. This manifests in their school activities because they usually do have a hard time with mathematics and reading.
- Lisch nodules: These are harmless nodules, that can’t be easily seen. They do not affect the vision.
- Neurofibromas: These are benign tumours that grow under or in the skin. They are also capable of growing in the body.
Neurofibromatosis Type 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 a result of the development of non-malignant, slow-growing tumours in the two ears. This tumour is referred to as acoustic neuroma. The tumours 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 on the vestibulocochlear nerve will affect the way we hear and also affect 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 easily, This is because of the growth of a tumour on the vestibulocochlear nerve.
In addition, neurofibromatosis type 2 can also lead to the growth of tumours 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 tumours 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.
The last type of neurofibromatosis is schwannomatosis.
Schwannomatosis is an uncommon type of neurofibromatosis, that occurs mostly in people above the age of 20. This disease causes tumours to grow on the skull, the spinal and peripheral nerves, However, it doesn’t affect the vestibulocochlear nerves. As a result of this, this disease does not lead to hearing loss, as compared to other types of neurofibromatosis. This disease also leads to chronic pain, which can develop in any part of the body. Other symptoms of the disease also include the muscle loss and weakness in different parts of the body.
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 in nature; that is they can transform into many types of cells. Malignant tumours contain stem cells, causing a lot of 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.
Evans, D. (2009). Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]. Genetics In Medicine, 11(9), 599-610. doi: 10.1097/gim.0b013e3181ac9a27
Flexon, P., Nadol, J., Montgomery, W., Schuknecht, H., & Martuza, R. (1991). Bilateral Acoustic Neurofibromatosis (Neurofibromatosis 2): A Disorder Distinct from Von Recklinghausen’s Neurofibromatosis (Neurofibromatosis 1). Annals Of Otology, Rhinology & Laryngology, 100(10), 830-834. doi: 10.1177/000348949110001008
Malis, L. (1998). Neurofibromatosis type 2 and central neurofibromatosis. Neurosurgical Focus, 4(3), E2. doi: 10.3171/foc.1922.214.171.124Get More Stem Cell Information at iSTEMCELL