Neurofibromatosis is an autosomal dominant genetic disorder that is caused by a mutation of a gene and characterized by a growth of tumors in nerves which may affect the structure of bones and skin conditions. There are three types of neurofibromatosis, including type 1, type 2, and Schwannomatosis. Each type of this disease has its own gene association. NF1 results from a germline mutation that is observed in the NF1 gene that is coded on chromosome 17q11.2 (Hirbe & Gutmann, 2014). It encodes a 220 kDa cytoplasmic protein that usually functions as a negative Ras proto-oncogene responsible for the growth of cells in the body (Hirbe & Gutmann, 2014). The presence of NF2 promotes NF2. It is coded on chromosome 22q12.1 and characterized by the interaction with cytosolic proteins and result in the lack of functional merlin (DynaMed Plus, 2016). Schwannomatosis is caused by mutations in such genes as SMARCB1 and LZTR1 coded on chromosome 22 (Genetics Home Reference, 2017). Mutations in these genes are not enough to cause its growth. Somatic mutations have to be observed in NF2 genes as well. People may inherit neurofibromatosis from their parents or have it as a result of a spontaneous genetic change. Children have 50% to inherit or avoid this trait.
Such polymorphism of neurofibromatosis contributes to the penetrance and expression of this disease. Mutations cause nonfunctional merlin and cytosolic proteins at the cellular level and the inability to control the division of cells. These events lead to the creation of new tumors and the development of new health concerns such as hearing loss, peripheral neuropathy, and muscle weakness.
Though the disease under analysis is an inherent defect that may occur because of a mutated gene or spontaneously, there is also a thought that neurofibromatosis phenotype may be affected by certain environmental factors. A mechanical trauma causes the development of neurofibromas. The case of a 44-year-old patient named Harold proves that Schwannomatosis may be developed due to weight lifting and associated with lower back pain.
Patients with neurofibromatosis may experience different challenges depending on the type of the disease. For example, NF1 patients may have such symptoms as learning disabilities, short height, head size, abnormal bones, and bumps or spots on the skin. NF2 patients usually suffer from regular headaches, poor balance, and hearing problems. Schwannomatosis is characterized by muscle loss and body weakness. Complications of this disease vary, including vision and skeletal problems, hormonal change, and neurology. Therefore, as soon as some symptoms are observed, or there is a family history of neurofibromatosis, a clear diagnosis is required. As a rule, MRI or X-rays are used to prove bone abnormalities or the presence of tumors. To avoid clinical bias, patients may take genetic tests and identify mutational changes through the analysis of tissue. A clinical diagnosis (the evaluation of spots and skin changes) is as effective as genetic (blood) testing.
A chiropractor has to manage a patient with neurofibromatosis, focusing on the prevention of complications, constant monitoring, and pain medications. Though tumors in neurofibromatosis patients are not cancerous, there is a threat of having cancer as its main complication (Hirbe & Gutmann, 2014). The size and quality of neurofibromas are hard to control, and the risks of having cancer should be considered. NF1 treatment includes surgery, chemotherapy, and aggressive management of pain. Occupational therapy, vestibular improvement, radiotherapy, and behavioral interventions are required for NF2 patients. In the case of Schwannomatosis, pain management may be offered. However, in the majority of cases, surgery is the only correct decision.
References
DynaMed Plus. (2016). Neurofibromatosis type 2. Web.
Genetics Home Reference. (2017). Schwannomatosis. Web.
Hirbe, A.C., & Gutmann, D.H. (2014). Neurofibromatosis type 1: A multidisciplinary approach to care. Lancet Neural, 13(8), 834-843. Web.