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Chapters
0:00 Introduction
1:10 Causes of Neurofibromatosis
2:42 Symptoms of Neurofibromatosis
3:59 Diagnosis of Neurofibromatosis
Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system.[1] The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis.[1] In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis.[2] In NF2, there may be hearing loss, cataracts at a young age, balance problems, flesh colored skin flaps, and muscle wasting.[2] In schwannomatosis there may be pain either in one location or in wide areas of the body.[3] The tumors in NF are generally non-cancerous.[1]
The cause is a genetic mutation in certain oncogenes.[1] These can be inherited from a person's parents, or in about half of cases spontaneously occur during early development.[1] Different mutations result in the three types of NF.[4] Neurofibromatosis arise from the supporting cells of the nervous system rather than the neurons themselves.[1] In NF1, the tumors are neurofibromas (tumors of the peripheral nerves), while in NF2 and schwannomatosis tumors of Schwann cells are more common.[1] Diagnosis is typically based on symptoms, examination, medical imaging, and biopsy.[5][3] Genetic testing may rarely be done to support the diagnosis.[2]
There is no known prevention or cure.[1][2] Surgery may be done to remove tumors that are causing problems or have become cancerous.[1] Radiation and chemotherapy may also be used if cancer occurs.[1] A cochlear implant or auditory brainstem implant may help some who have hearing loss due to the condition.[1]
In the United States, about 1 in 3,500 people have NF1 and 1 in 25,000 have NF2.[1] Males and females are affected equally often.[2] In NF1, symptoms are often present at birth or develop before 10 years of age.[1] While the condition typically worsens with time, most people with NF1 have a normal life expectancy.[1] In NF2, symptoms may not become apparent until early adulthood.[1] NF2 increases the risk of early death.[1] Descriptions of the condition occur as far back as the 1st century.[6] It was formally described by Friedrich Daniel von Recklinghausen in 1882, after whom it was previously named.[4]