This is a genetic condition of the nervous system affecting how the nerve cells develop and grow. Neurofibromatosis is the tumors that develop in nerve tissues which can occur anywhere in the nervous system including the brain, the spinal cord and nerves. These tumors are usually benign but may sometimes become cancerous. However, the complications that can occur because of the tumors that press on the nerve include hearing loss, blood vessels problems, loss of vision and severe pain. Neurofibromatosis is detected during childhood or early adulthood. There are three types of neurofibromatosis; type 1, type 2 and Schwannomatosis.
Causes
Neurofibromatosis can either develops because of the condition begin passed on in families from one generation to the next or can develop with no family history because of spontaneous genetic mutation. Once an individual develops neurofibromatosis, it can be passed on to their children. Type 1 develops because of the genetic defect located on chromosome 17 that normally produces a protein called neurofibromin to regulate the cell growth. The genetic mutation results in the loss of neurofibromin causing the uncontrolled growth of the cells. Type 2 develops because of genetic mutation on chromosome 22 that is responsible for the production of a protein called merlin and the mutation causes the loss of merlin resulting in the uncontrolled cellular growth. Two genetic mutations so far have been identified to cause schwannomatosis.
Symptoms
Type 1 causes skin changes such as café au lait spots, freckling in the armpits or the groin area, learning difficulties, the tumor on the optic nerve, deformed bones, a short stature and larger than normal head size. The type 1 is mostly evident shortly after the birth of the child or always by age 10. The symptoms of type 2 can occur by the late teen and are much less common than type 1. The benign tumors develop in both the ears, the nerve that is responsible for delivering sound and balance information to the brain. The symptoms of type 2 include the progressive hearing loss, ringing in the ears, poor balance and headaches. In some case, the type 2 tumors can develop in the cranial, spinal, peripheral and visual nerves causing its associated symptoms. Schwannomatosis is the rare type of neurofibromatosis that develops among individuals over the age of 20. The schwannomatosis tumors can develop on the skull, spinal and peripheral nerves. The associated symptoms include chronic pain, numbness or weakness in various parts of the body and loss of muscle.
Diagnosis
The diagnosis involves a physical examination, reviewing the medical and family history of the individual, the symptoms evident and with various specialized tests. The diagnostic tests may include an eye and the ear examination, imaging tests to detect the tumors and genetic tests to identify the genetic mutation responsible for developing the type of tumor.
Treatment
There is no cure for the condition but the treatment can help with the symptoms. Based on the type of the disease and how serious it is, a surgery may be recommended to remove the tumors. In the case of a malignant tumor, the treatment options include a surgery to remove the tumor, chemotherapy and radiation therapy.
References
https://www.nfauk.org/what-is-neurofibromatosis
https://medlineplus.gov/neurofibromatosis.html
