Neurofibromatosis
Human Heredity Project
Other names:
- Neurofibromatosis 1
- NF1
- Peripheral Neurofibromatosis
- Recklinghausen Disease, Nerve
- von Recklinghausen Disease
Causes, Symptoms, Treatments and Prevention
Symptoms may include:
- coffee colored patches on the skin
- freckles in unusual places (armpits)
- bumps on and maybe under their skin
- learning and behavioral problems
- tumor on the optic pathway
- high blood pressure
There is no cure for neurofibromatosis but there are treatments. Typically, children with this condition get yearly examinations. People who have spots of discoloration usually use make up to cover the spots. If people have bumps under the skin then it can be treated with plastic surgery or laser surgery. If they tumor on the optic nerve gets to be too big then the child or adult can do chemotherapy to shrink the tumor.
It can not be prevented but people can be tested to see if they have NF or if their children have it.
Population
- 30-50% cases diagnosed occur from spontaneous genetic mutation
Inheritance
It is located on chromosome 17
Children with Neurfibromatosis
Long Term Effects:
- high blood pressure
- blindness
- deafness
- seizures
- speech problems
Research
Works Cited
NIH. "Neurofibromatosis Type 1." Genetics Home Reference. US National Library of Medicine, 26 Apr. 2016. Web. 05 May 2016. <https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1>.
NHS. "Neurofibromatosis Type 1." Neurofibromatosis Type 1. NHS Choices, 16 Mar. 2015. Web. 05 May 2016. <http://www.nhs.uk/Conditions/Neurofibromatosis/Pages/Causes.aspx>.
Remmedy. "Neurofibromatosis Treatment, Prevention." - Neurofibrmatosis. Health Communities.com, 30 Apr. 2001. Web. 05 May 2016. <http://www.healthcommunities.com/neurofibromatosis/treatment.shtml>.
Englert, Chad. "Neurofibromatosis-1: MedlinePlus Medical Encyclopedia."U.S National Library of Medicine. U.S. National Library of Medicine, 9 Nov. 2014. Web. 05 May 2016. <https://www.nlm.nih.gov/medlineplus/ency/article/000847.htm>.