Neurofibromatosis
What you need to know
Symptoms or signs of NF
- Light brown spots on the skin
- The apearence of two or more neurofibromas( pea sized bumps)
- Neurofibromas can grow on the nerve tissue or under the skin
- Manifestation of freckles under the arm pits or in the groin area
- Tumors
- Severe curvature of the spine( scoliosis) or the malfunction of other bones
How do NF affect daily life
In most light cases it's just a nuisance, but in others can cause medical problems. There can be pain because of the neurofibromas put pressure on the nerves, There can also be numbness and weakness. There can also be bone problems because of NF2.
What is the life expectancy and how many people live with NF
If there are no complications, the life expectancy is the same as a normal persons. NF occurs in approximately 1 in 4000 births and NF is heritary disorder or the production of a gene mutation.
What is the mutation in the cell causing NF
NF I'd caused in chromosome 17. The gene codes for a protein called neurofibromin
The meaning of Neurofibromatosis
Neuro means nerve and fibroma means the swelling or bump consisting of fibrous tissue.
Treatments
- Surgery to remove the neurofibroma, but it's not alway possible
- Stereotactic radio surgery will deliver radiation directly to your tumor and it doesn't require an incision
- Auditory brain stem implants will help hearing loss if you have NF2
- There is no cure
Interesting facts
- NF is inherited by the dominant trait
- The are two types of Neurofibromatosis( NF1 and NF2)
Citations
- http://www.ctf.org/pdf/brochures/Facing_NF_A_Guide_for_Teens.pdf
- http://www.genome.gou/145144225/learning-about-Neurofibromatosis
- http://www.inspire.cam/grows/Neurofibromatosis-network/discussion/nf1-and-life-expectancy
- http://www.nlm.nih.gov/medlineplus/Neurofibromatosis.html
- http://www.mayoclinic.org/disease-conditions/Neurofibromatosis/diagnosis-treatment/treatment/txc-20167107
- www.ctf.org/brochures/facing_NF_Guide_for_teens.pdf