Neurofibromatosis
| Subclass of | autosomal dominant disease, peripheral nervous system neoplasm, overgrowth syndrome, disease  |
|---|---|
| Health specialty | medical genetics, neurology |
| Genetic association | NF1, NF2 |
| External data available at URL | http://www.nanbyou.or.jp/entry/5361 |
| ICD-9-CM | 237.70, 237.72, 237.7, 237.71 |
| ICPC 2 ID | A90 |
| NCI Thesaurus ID | C6727, C3274, C3273 |
Neurofibromatosis (NF) dey refer to a group of three distinct genetic conditions insyd wich tumors grow insyd de nervous system.[1] De tumors be non-cancerous (benign) wey often dey involve de skin anaa surrounding bone.[1] Although symptoms often be mild, each condition dey present differently. Neurofibromatosis type I (NF1) typically be characterized by café au lait spots (light-brown flat patches of skin), neurofibromas (small bumps insyd anaa under de skin), scoliosis (side-way curvature of de back), den headaches.[2] Neurofibromatosis type II (NF2), on de oda hand, fi present plus early-onset hearing loss, cataracts, tinnitus, difficulty walking anaa maintaining balance, den muscle atrophy.[2] Dem dey bell de third type schwannomatosis den often dey present insyd early adulthood plus widespread pain, numbness, anaa tingling secof nerve compression.[3]
De cause be a genetic mutation insyd certain oncogenes.[1] Dese fi be inherited, anaa insyd about half of cases spontaneously occur during early development.[1] Different mutations result insyd de three types of NF.[4] Neurofibromatosis dey arise from de supporting cells of de nervous system rada dan de neurons demaselves.[1] Insyd NF1, de tumors be neurofibromas (tumors of de peripheral nerves), while insyd NF2 den schwannomatosis tumors of Schwann cells be more common.[1] Diagnosis typically be based on symptoms, examination, medical imaging, den biopsy.[5][6] Genetic testing rarely fi be done to support de diagnosis.[2]
Der be no known prevention anaa cure.[1][2] Surgery fi be done to remove tumors wey dey cause problems anaa e cam be cancerous.[1] Radiation den chemotherapy sanso fi be used if cancer occur.[1] A cochlear implant anaa auditory brainstem implant fi help sam wey get hearing loss secof de condition.[1]
Insyd de United States, about 1 insyd 3,500 people get NF1 den 1 insyd 25,000 get NF2.[1] Males den females be affected equally often.[2] Insyd NF1, symptoms often be present at birth anaa develop before 10 years of age.[1] While de condition typically dey worsen plus time, chaw people plus NF1 get a normal life expectancy.[1] Insyd NF2, symptoms no fi cam be apparent til early adulthood.[1] NF2 dey increase de risk of early death.[1] Descriptions of de condition occur as far back as de 1st century.[7] E be formally described by Friedrich Daniel von Recklinghausen insyd 1882, after whom na dem previously name "von Recklinghausen's disease".[4]
References
[edit | edit source]- 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 "Neurofibromatosis Fact Sheet". NINDS. 3 February 2016. Archived from the original on 23 January 2018. Retrieved 16 April 2018.
- 1 2 3 4 5 "Learning about Neurofibromatosis". National Human Genome Research Institute (NHGRI). 16 August 2016. Archived from the original on 10 October 2016. Retrieved 7 November 2016.
- ↑ Dhamija, R.; Plotkin, S.; Asthagiri, A.; Messiaen, L.; Babovic-Vuksanovic, D.; Adam, M. P.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Gripp, K. W.; Amemiya, A. (1993). "LZTR1- and SMARCB1-Related Schwannomatosis". PubMed. University of Washington, Seattle. PMID 29517885. Retrieved 21 November 2019.
- 1 2 Woodrow C, Clarke A, Amirfeyz R (1 June 2015). "Neurofibromatosis". Orthopaedics and Trauma (in English). 29 (3): 206–210. doi:10.1016/j.mporth.2015.02.004. ISSN 1877-1327. S2CID 239484110. Retrieved 22 November 2019.
- ↑ Le, C.; Bedocs, P. M. (January 2019). Neurofibromatosis. StatPearls. PMID 29083784.
- ↑ Dhamija, R.; Plotkin, S.; Asthagiri, A.; Messiaen, L.; Babovic-Vuksanovic, D.; Adam, M. P.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Gripp, K. W.; Amemiya, A. (1993). "LZTR1- and SMARCB1-Related Schwannomatosis". PubMed. University of Washington, Seattle. PMID 29517885. Retrieved 21 November 2019.
- ↑ 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.
Read further
[edit | edit source]- Upadhyaya M, Cooper D (29 January 2013). Neurofibromatosis Type 1: Molecular and Cellular Biology. Springer Science & Business Media. ISBN 978-3-642-32864-0.
External links
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