Do you know what Neurofibromatosis is?

 


Neurofibromatosis (NF) is a term that refers to a set of three diseases in which tumours develop in the nervous system. Neurofibromatosis type I, type II, and schwannomatosis are the three kinds of neurofibromatosis. Skin patches, freckles in the armpit and groin, little lumps between nerves, and scoliosis are also indications of Neurofibromatosis 1. Hearing loss, cataracts at an early age, balance issues, flesh-colored skin flaps, and muscle wasting are all possible symptoms of Neurofibromatosis 2. Pain in schwannomatosis can occur in a single site or over a large area of the body. In most cases, the tumours in NF are non-cancerous.

A genetic mutation in oncogenes is the root of the problem. These can be passed down from one's parents or occur spontaneously in around half of the cases during early development. The three forms of NF are caused by various mutations. Neurofibromatoses are caused by the nervous system's supporting cells, not by the neurons themselves. Neurofibromas (tumours of the peripheral nerves) are more common in Neurofibromatosis1, while Schwann cell tumours are more common in Neurofibromatosis 2 and schwannomatosis. Symptoms, examination, medical imaging, and biopsy are commonly used to make a diagnosis. Rarely, genetic testing may be used to support a diagnosis.

There is no known way to inhibit or treat it. Tumors that are creating issues or have turned malignant may be surgically removed. If cancer develops, radiation and chemotherapy may be utilised. Some people with hearing loss owing to the disorder may benefit from a cochlear implant or an auditory brainstem implant.

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