Neurofibromatosis 1 (NF1)

What is NF1?
NF1 is a genetic condition which affects the skin, the skeleton and the part of the nervous system. Symptoms of NF1 include dark colored spots on the skin (café-au-lait spots), benign neurofibromas, and freckles in the underarm and groin. Other symptoms may include colored spots in the eye, curvature of the spine, learning disabilities and an increased risk for cancer. More information about NF1 may be found on the NIH’s website: https://rarediseases.info.nih.gov/diseases/7866/neurofibromatosis-type-1

What is the prevalence of NF1?
The prevalence of neurofibromatosis type 1 (NF1) is about 1/3,000.

How is NF1 diagnosed?
A clinical diagnosis of NF1 may be made if patients demonstrate at least two of the following:

  1. Six or more café-au-lait spots of at least 5 millimeters [mm] in size (before puberty) or 15 mm in size (after puberty)

  2. Freckling in the underarms (axillary) or groin (inguinal) regions

  3. Abnormal clumps of pigment on the colored portion of the eye (Lisch nodules)

  4. Certain abnormalities of bone development in the head (sphenoid wing dysplasia) or abnormal bowing of bones (pseudoarthrosis)

  5. Two or more neurofibromas of any type or one plexiform neurofibroma

  6. An affected parent, sibling, or child with confirmed NF1

Is there any specific gene/pathway in NF1 that has been identified?
NF1 is caused by a mutation in the NF1 gene on chromosome 17q11, which regulates the production of a protein which helps suppress the development of certain tumors.

How is NF1 treated?
Surgical treatment is offered for patients with particularly troublesome or disfiguring tumors. Laser or electrocautery treatment is also an option. Radiation therapy, chemotherapy, or both treatments may be used by some clinicians. Physical therapy and orthopedic devices may be beneficial for mobility in some patients. More information on treatment may be found here: https://rarediseases.org/rare-diseases/neurofibromatosis-type-1-nf1/

Are there any clinical trials underway for NF1?
The National Institutes of Health (NIH) has completed 101 clinical trials for NF1. Currently, there are 88 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=nf1&Search=Apply&recrs=b&recrs=a&recrs=f&recrs=d&age_v=&gndr=&type=&rslt=

How can RareShare be helpful to NF1 patients and families?
The NF1 community has 10 members. There are currently 2 active discussions underway. New discussions can help to connect patients, health workers, caregivers and families interested in NF1 and provide them continual access to community resources.