Video:Neurofibromatosis
| Neurofibromatosis (Tutorial) | |
|---|---|
| On Commons | |
 | |
| Steps for video creation | |
| Step 1 | Preview my changes (10 sec) |
| Step 2 | Upload to Commons (10 min) |
Definition
Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system.[1] The three types are neurofibromatosis type I, type II, and schwannomatosis.[1]
Presentation
In NF1 symptoms include light brown spots on the skin and colored part of the eye, 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]
Cause
The cause is a genetic mutation in certain genes.[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] The tumors involve the supporting cells of the nervous system rather than the neurons.[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
Diagnosis is typically based on symptoms, examination, medical imaging, and biopsy.[5][3] Genetic testing may rarely be done to support the diagnosis.[2]
Management
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]
Epidemiology
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]
References
- ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 1.13 1.14 1.15 "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.
- ↑ 2.0 2.1 2.2 2.3 2.4 "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.
- ↑ 3.0 3.1 Dhamija, Radhika; Plotkin, Scott; Asthagiri, Ashok; Messiaen, Ludwine; Babovic-Vuksanovic, Dusica (1993). "Schwannomatosis". GeneReviews®. University of Washington, Seattle. PMID 29517885. Retrieved 21 November 2019.
- ↑ 4.0 4.1 Woodrow, Christopher; Clarke, Anna; Amirfeyz, Rouin (1 June 2015). "Neurofibromatosis". Orthopaedics and Trauma. 29 (3): 206–210. doi:10.1016/j.mporth.2015.02.004. ISSN 1877-1327. Retrieved 22 November 2019.
- ↑ Le, C; Bedocs, PM (January 2019). "Neurofibromatosis". PMID 29083784.
{{cite journal}}: Cite journal requires|journal=(help) - ↑ Evans, Rosalie E. Ferner, Susan M. Huson, D. Gareth R. (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.