| Neurofibromatosis | |
|---|---|
 | |
| Back of an elderly woman with neurofibromatosis type 1 | |
| Specialty | Neurosurgery, neurology, Neuro-oncology |
| Symptoms | Small lumps within the skin, scoliosis, hearing loss, vision loss[1] |
| Usual onset | Birth to early adulthood[1] |
| Duration | Life long[1] |
| Types | Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), schwannomatosis[1] |
| Causes | Genetic[1] |
| Diagnostic method | Symptoms, genetic testing[2] |
| Treatment | Surgery, radiation therapy[2] |
| Prognosis | NF1: variable, but most of the time normal life expectancy[1] NF2: shortened life expectancy[1] |
| Frequency | 1 in 3,000 people (United States)[1] |
Neurofibromatosis (NF) refers to a group of three distinct genetic conditions in which tumors grow in the nervous system.[1] The tumors are non-cancerous (benign) and often involve the skin or surrounding bone.[1] Although symptoms are often mild, each condition presents differently. Neurofibromatosis type I (NF1) is typically characterized by café au lait spots (light-brown flat patches of skin), neurofibromas (small bumps in or under the skin), scoliosis (side-way curvature of the back), and headaches.[2] Neurofibromatosis type II (NF2), on the other hand, may present with early-onset hearing loss, cataracts, tinnitus, difficulty walking or maintaining balance, and muscle atrophy.[2] The third type is called schwannomatosis and often presents in early adulthood with widespread pain, numbness, or tingling due to nerve compression.[3]
The cause is a genetic mutation in certain oncogenes.[1] These can be inherited, 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]
- ^ a b c d e f g h i j k l m n o p q r s t u v w "Neurofibromatosis Fact Sheet". NINDS. 3 February 2016. Archived from the original on 23 January 2018. Retrieved 16 April 2018.
This article incorporates text from this source, which is in the public domain.
- ^ a b c d e f g "Learning about Neurofibromatosis". National Human Genome Research Institute (NHGRI). 16 August 2016. Archived from the original on 10 October 2016. Retrieved 7 November 2016. This article incorporates text from this source, which is in the public domain.
- ^ a b Dhamija R, Plotkin S, Asthagiri A, Messiaen L, Babovic-Vuksanovic D, Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A (1993). "LZTR1- and SMARCB1-Related Schwannomatosis". Schwannomatosis. University of Washington, Seattle. PMID 29517885. Retrieved 21 November 2019.
{{cite book}}:|website=ignored (help) - ^ a b Woodrow C, Clarke A, Amirfeyz R (1 June 2015). "Neurofibromatosis". Orthopaedics and Trauma. 29 (3): 206–210. doi:10.1016/j.mporth.2015.02.004. ISSN 1877-1327. S2CID 239484110. Retrieved 22 November 2019.
- ^ Le C, Bedocs PM (January 2019). Neurofibromatosis. StatPearls. PMID 29083784.
- ^ Ferner RE, Huson S, Evans DG (2011). Neurofibromatoses in clinical practice. London: Springer. p. 1. ISBN 978-0-85729-628-3. Archived from the original on 10 September 2017. Retrieved 9 October 2015.
