Neurofibromatosis

Anna Haynes Ms. Beatty Biology I Honors April 22, 2010


 * Neurofibromatosis**

Neurofibromatosis (NF) is a gentic disorder where tumors grow along different nerves and can also affect the growth of bones and skins. NF can cuase tumors to grow anywhere on the body. There are three different types of NF: NF1, NF2, and Schwannomatosis.

NF1 is an autosomal dominant trait. Half of all NF is inherited from a parent who has NF1. However, half of all cases are not inherited from a parent; it results from a spontaneous mutation between the sperm or egg cell. NF1 is found on chromosome 17 and it damages the chromosome. The pictures below show what happens when NF1 is being inherited. ​







An interesting fact about NF1 is that it can take on many different forms in any race, religion, or sex. Commonly in NF1 you find the tumors on the outside or near the surface of the skin, but it can also be found deep in the body. The tumors can vary from the size to the number. The tumors, also known as neurofibromas, may become cancerous. Neurofibromas can be removed depending on where it is located on the body. A more common sign of NF1 is café- au- lait spots, which are flat, pigmented spots that are a light tan color. Most people with NF1 have an average of six café- au- lait spots. Also, another common sign of NF1 is Iris nevi, which are clusters of pigment in the colored part of the eye. Iris nevi usually occurs in the eye around puberty. The onset of puberty may be delayed or may start early. NF1 may cause complications such as disfigurement, scoliosis, learning disabilities, lager heads, tumors on the optic nerve, defects with the bones, and higher blood pressure. The tumors may affect the person's ablity to walk, their speech, and their fine motor skills. Normally, NF1 is not life threatening, although occasionally a person may have a stroke or brain tumor. Even though it may not be life threatening, the person may fear that they will get tumors.



There is no cure or gene therapy for NF1. However, some of the symptoms can be treated. The tumors can be removed depending on where they are located. Also, the person can go to therapy for their disabilities such as walking, speech, or motor skills.

The only way NF1 can be detected before birth is if NF is in the family. A way to tell if the mother or father carries the gene is by genetic testing. When a baby is born, café- au- lait spots or tumors on the outside of the body may be a sign of NF1.


 * Sources:**
 * "Living With NF". Children's Tumor Foundation. 2005- 2010. [|http://ctf.org/living-with- n]f/.


 * "Man". Laboratory of Pathology of Seattle. homepage.mac.com/.../ Hominidae/HSA550.gif.