Neurofibromatosis: A Genetic Disorder

Did You Know? 1 in 3,000 children born have Neurofibromatosis  

Genetics Play a Critical Role in Neurofibromatosis   

Neurofibromatosis Causes Tumors to Form on Nerve Tissue

Neurofibromatosis (NF) refers to several genetically inherited conditions that are clinically and genetically different and carry a high possibility of tumor formation. May is NF Awareness Month, a time to draw awareness and educate regarding this rare disorder.   

This resource was designed to provide education on what Neurofibromatosis is, disorder types and treatment.  

01 | What is Neurofibromatosis?

Neurofibromatosis is a genetically inherited disorder of the nervous system (brain and spinal cord) which mainly affects the development of nerve cell tissues, causing tumors to develop on nerves and may cause other abnormalities. 

02 | Neurofibromatosis Types

Neurofibromatosis can be grouped into three genetically distinct disorders that cause tumors to grow in the nervous system.  The disorder is categorized into the following types:  

• Type 1 – Often called von Recklinghausen NF causes multiple areas of hyperpigmentation (birthmarks) that appear shortly after birth. In late childhood, a few to thousands of tumors appear on the skin and under the skin. These tumors may become cancerous.

• Type 2 – Tumors form in the nervous system, usually within the skull and spinal canal. This type causes hearing loss and loss of sense of balance (equilibrium), usually during the late teens or early 20s. These tumors may become cancerous.
   
• Type 3 (Schwannomatosis) - A rare form of NF which cause multiple benign tumors to form in peripheral nerve fiber cells. This type of NF does not cause neurological disabilities or malignant tumors. The hallmark of this condition is chronic pain which can occur in any part of the body. 
   

03 | Treatment

Some cases of NF may not require treatment other than careful observation. Other cases may require chemotherapy, radiation therapy, or surgery.  

NF is a rare disorder; however there are many resources available for support.  For more information and support resources visit: http://www.ninds.nih.gov  

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References

http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm 

http://www.healthcommunities.com/neurofibromatosis/overview-of-neurofibromatosis.shtml 

http://www.mayoclinic.org/diseases-conditions/neurofibromatosis/diagnosis-treatment/treatment/txc-20167907