Neurofibromatosis

This month we have been focusing on May being Skin Cancer Awareness Month.  But May has to share.  May is also Neurofibromatosis Awareness Month.

What is Neurofibromatosis?  Neurofibromatosis (NF) is a group of disorders that all include benign growths on nerve cells throughout the body. As a dermatologist we see and occasionally remove neurofibromas on the skin.  Having a few neurofibromas on the skin can be quite normal.  There are very clear guidelines for the diagnosis of the different types of Neurofibromatosis.

What are the different types of Neurofibromatosis?  There are 8 types of Neurofibromatosis.  Neurofibromatosis-1 is the most well-known type with patients developing hundreds to thousands of disfiguring neurofibromas on the skin.  The other main type is NF-2.  The table below from www.researchgate.net outlines the 8 types.  As a dermatologist, I most commonly see segmental NF (type5). 

How is NF diagnosed?  The criteria for diagnosis of NF-1 and NF-2 are clear, but genetic testing is often used to confirm the diagnosis.  The charts below detail the diagnostic requirements. 

How does someone develop Neurofibromatosis?  NF is the result of a genetic mutation that may be inherited or may develop spontaneously.  It affects 1 in 3000 people worldwide.

Are there are treatments for NF?  In researching for this article, I learned that there is a new drug to reduce the size of Plexiform Neurofibromas seen in Neurofibromatosis called Koselugo.  To learn more about this treatment you can visit their website.  https://www.koselugo.com/  Overall the treatment is multidisciplinary meaning that specialists in all types of medicine work together to best maintain health for patients with this condition.

This week we’ll review some of the skin signs of NF in more depth.  Join us on our social media channel to keep learning. 

To learn more about Neurofibromatosis and how to create awareness of this disorder, check out the following website. https://www.ctf.org/

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