Neurofibromatosis Type 1 (NF1)

NF1 is a rare genetic disorder that causes non-cancerous tumors called neurofibromas to grow. They grow on or just underneath the skin and they also grow in the brain, peripheral nervous system, and other places such as the eye.  People who have NF1 have symptoms that vary greatly form person to person. Most people have vary distinctive cafe a lait spots that look like coffee with milk and they also have freckles and these two symptoms increase with age. They will also have many tumors called neurofibromas witch with time can turn into malignant tumors.  Most people who have NF1 will live normal lives that are hardly affected by the disorder. However sometimes in rare cases the affected person can be severely disabled by the disease.  NF1 occurs in about one in every 4,000 births. Neurofibromatosis is not diagnosed through genetic screening but one day they hope to be able to because they found out it is in chromosome 17 and this could lead to a blood test for the disorder.  To treat this disorder you can have chemotherapy, radiation, or get the tumors removed surgically.  The inheritance pattern of this disorder is Autosonomal Dominant inheritance.  This disorder is caused by a mutation in a gene on chromosome 17.  This affects the neurofibromin protein witch regulates cell growth.