Neurofibromatosis: Not as Scary as It Sounds

Contributed by: Scott Cady, Pharm.D. Candidate

KU School of Pharmacy

Text Box: The answer: A term that describes an autosomal dominant disorder affecting the bone, nervous system, soft tissue, and the skin. The question: What is neurofibromatosis, Alex? If you are anything like me, and not Alex Trebek from Jeopardy, I could not have provided the correct response, either. I really didn’t know much about this condition until I began researching it. Neurofibromatosis (type NF1) is actually quite common, occurring in 1 in 3,000 to 4,000 individuals in the United States, and approximately 1 in 2,500-3,300 live births worldwide. Type NF2 is not as common, affecting about 1 in 40,000. This disorder does not discriminate, as it affects men, women, and all races equally. The most common tumors are neurofibromas. These tumors develop in the tissue adjoining peripheral nerves, and most are non-cancerous. However, they can become cancerous over time. An estimated 10,000 Americans are affected by this disorder. A burning question then arises: what causes these tumors? Unfortunately, the answer is unknown at this time. A suspected cause is a mutation in genes responsible for suppressing tumor growth within the nervous system. These genes – identified as NF1 and NF2 – are then unable to make the specific proteins controlling cell production. When cells are allowed to grow and reproduce without signals to tell

Text Box: them to stop, they will form tumors. If there is not a specific cause, how would a person tell if they have this disorder? Some signs and symptoms a physician looks for when diagnosing NF1 includes two or more of the following: six or more light brown spots on the skin (often called “café-au-lait” spots), measuring more than 5 mm in diameter in children, or more than 15 mm diameter in adolescents and adults; two or more neurofibromas, or one plexiform neurofibroma (a neurofibroma that involves many nerves); freckling in the area of the armpit or the groin; two or more growths on the iris of the eye (known as Lisch nodules or iris hamartomas); a tumor on the optic nerve (optic glioma); abnormal development of the spine (scoliosis), the temple (sphenoid) bone of the skull, or the tibia (one of the long bones of the shin); a first degree relative (parent, sibling, or child) with NF1. The most common skin abnormalities – café-au-lait spots, neurofibromas, Lisch nodules, and freckling in the armpit and groin – are often present at birth or shortly thereafter, and virtually always by the age of ten years old. The most imminent question then becomes, “How do you treat a per

Text Box: son who is afflicted with this disorder?” The most predominant treatment is surgery, but radiation and chemotherapy are also viable options, often resulting in size reduction of the tumor. When the neurofibromas cause pain or increase in size, they are suspected to be malignant and removed for analysis. Another possible reason for tumor removal is any sign of epilepsy. Epileptic seizures and headaches can also be treated with medications, initially instead of surgery. For additional information, or concerns about neurofibromatosis, talk with your physician. Helpful websites include: www.nfinc.org/ (Support and information for those with Neurofibromatosis www.nlm.nih.gov/medlineplus/neurofibromatosis.html (MedlinePlus: Neurofibromatosis) www.emedicine.com/DERM/topic287.htm (Article by Jennifer Kam, MD and includes pictures)