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Neurofibromatosis Neurofibromatosis
Neurofibromatosis, or NF, is an inherited condition that disrupts the cell growth in your nervous system. NF causes tumors to develop on nerve... Neurofibromatosis

by Kimberly Allen, RN
Neurofibromatosis, or NF, is an inherited condition that disrupts the cell growth in your nervous system.  NF causes tumors to develop on nerve tissue, they can form anywhere in the nervous system including your brain and spinal cord as well as the nerves throughout your body.  The tumors are almost always benign, however, they can become malignant.  It is an autosomal dominant condition, meaning you only need to inherit one affected gene from one parent to develop the disorder.  So if one parent has NF his-her children have a 50% chance of also developing NF NF is usually diagnosed in children between 3 to 16 years of age.  There are over 90,000 people diagnosed with NF every year in the US.  nervous system

There are three types of NF, NF type I and NF type II as well as Schwannomatosis.  NF type I is also known as von Recklinghausen disease.  It is caused by a mutation  in a gene on chromosome 17.  The mutated gene normally produces neurofibromin as protein that is abundant throughout the nervous system that assists in the regulation of cell growth.  The muttion causes a loss of neurofibromin which then allows uncontrolled cell growth.
In NF II there is a mutation of a gene on chromosome 22.  This gene is resposible for producing a protein known as merlin.  A mutation in this gene creates a loss of merlin which in trun allows uncontrolled cell growth.
Schwannomatosis was only recently identified as a form of NF.  It is believed tro be associated with another gene on the 22nd chromosome called SMARCB1,  However, there may also be other mutations involved in this type.  Schwannomatosis can be either inherited or sponaneous.
In NFI the symptoms usually manifest in childhood.  The first indication that your child may have NF I is the appearance of light brown spots called cafe su lait.  If your child has more than 6 of these spots chances are that he-she has NF I.  There may also be freckles in the armpits and-or groin areas.  As your child gets older he-she will develop neurofibromas or small bumps under their skin.  These small tumors are benign and can be found anywhere in the body.  Many children with NF I also develop tiny bumps on their irises called Lisch nodules.  These bumps are harmless and don´t affect their vision.  Children with NF I also tend to have bone abnormalities as well as a larger than average head size as well as a higher brain volume which may be responsible for the learning disabilities that children with NF I have.  Children with NF I are also shorter than average.
The symptoms of NF II most often develop  as a result of acoustic neuromas in both ears.  These tumors cause gradual hearing loss and ringing in both ears as well as poor balance.
Schwannomatosis is considered rare and the symptoms rarely manifest before 20 to 30 years of age,  It causes the development of painful tumors on the cranial and spinal nerves as well as the peripheral nerves.
There is no cure for neurofibrmatosis, however, your doctor will want to monitor your child for any complications and treat their symptoms .  If you have Schwannomatosis  your doctor may prescribe medications to control your pain.  If the tumors become malignant your doctor will recommend standard cancer treatment.
It´s important that if your child has neurofibromatosis that he-she is under the care of a doctor that specializes in treating NF as soon as possible to achieve the best possible outcome for your child.

Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to HealthAndFitnessTalk.com, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at  mussatti3@gmail.com.

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