Neurofibromatosis (NF) is a group of genetic disorders that are caused by changes (mutations) in genes that help control cell growth. All forms of NF cause noncancerous (benign) tumors to develop along nerves, in the brain, or along the spinal cord. In some cases, the tumors can become cancerous (malignant). There are two main types of NF, neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). The type and severity of NF symptoms depends on the type of NF a person has and can include changes to skin color (pigment), benign tumors under the skin (neurofibromas), changes to the colored part of the eye (Lisch nodules), high blood pressure, delays in development, and hearing loss.
NF1 is caused by mutations in the NF1 gene while NF2 is caused by mutations in the NF2 gene. Both genes are tumor suppressors for nerve cells, which means they help control nerve cell growth and division. A mutation in either gene leads to uncontrolled nerve cell growth, which causes tumor development in nerve tissue throughout the body. Both conditions are inherited in an autosomal dominant way, which means a mutation in one of two copies of the gene a person has is enough to cause the condition. Each child of a person with NF has a 50% of also having NF.
There are clinical criteria that doctors use to diagnose NF. The condition is usually diagnosed by a doctor who is familiar with skin conditions (dermatologist) or genetic conditions (geneticist). Genetic testing is used to confirm the clinical diagnosis. Although NF does not have a cure, management of many of the symptoms is possible. Treatment usually involves surveillance of tumor growth in the body and, if necessary, surgery to remove tumors that are causing severe symptoms. If your child has been diagnosed with NF, talk with their doctor to determine a treatment plan. More information and support is available through NF support groups.