There are two types of neurofibromatosis: NF1 and NF2. NF1 is benign and NF2 is more severe. Neurofibromatosis is a defective gene on chromosome 17. It is inherited through autosomal dominant genes. It is one of the most commonly inherited genes. About 1/2 of all cases are due to new mutations that are not inherited from parents. The gene is large, and this accounts for the high frequency of new mutations.
There are many symptoms associated with neurofibromatosis. Major symptoms include numerous benign tumors, which appear on or under the skin or in deeper areas within the body. These tumors can produce disfigurement and orthopedic problems, including curvature in the spine and bone loss on the weight bearing bones of the body. Another major symptom is the appearance of café-au-lait spots, which are discolored spots on the skin. Other symptoms include: delay in sexual development, learning disabilities, nodules on the iris of the eyes, pain, vision loss, seizures, hyperactivity and speech problems. These would be things to look for to detect NF1.
There are very few things that can be done to diagnose NF1. An eye examination is offered to look for nodules in the iris of the eyes. Although there are very few to no tests that can be done now, genetics tests will arrive in the future to diagnose NF1. There is also on prenatal diagnosis.
NF1 can be treated by surgical removal of troublesome tumors. Physical therapy is occasionally useful and orthopedic devices can improve disabilities in some cases. These do not always work and as a result, the spinal and intracranial tumors can shorten the patient's life span.
NF1 affects approximately 100,000 Americans. It occurs in both males and females. 1 in every 4,000 people has it. Approximately 50% of affected families have a negative family history. Around 95% of all cases go unnoticed! Tumors turn malignant in 3-15% of cases, 40% have learning disabilities and 2-5% are mentally retarded.