Neurofibromatosis is a group of genetic conditions where the affected individual develops tumor formation in their nervous system. There are three types of neurofibromatosis, each with different signs and symptoms: neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.
Neurofibromatosis is caused by a genetic mutation - approximately 50% of patients inherited these genes from their parents. These tumors are most commonly seen in the nervous system instead of the neurons. In neurofibromatosis type 1, tumors that appear in the peripheral nerves are called neurofibromas while in neurofibromatosis type 2 and schwannomatosis, tumors of Schwann cells are much more common. The diagnosis of neurofibromatosis is achieved based on the patient’s symptoms and signs. Genetic testing can help support the diagnosis.
There is no cure or prevention for neurofibromatosis. Treatment involves surgery to remove the tumors that are causing issues or that are cancerous. Chemotherapy and radiation therapy may be involved if there is cancer. Those with hearing loss can opt for an auditory brainstem implant or cochlear implant. In the United States, it has been estimated that there is approximately 1 per 3,500 individuals with neurofibromatosis type 1 and 1 per 25,000 individuals with neurofibromatosis type 2. Patients with neurofibromatosis type 1 often experience symptoms at birth or before 10 years of age while those with neurofibromatosis type 2 may not experience symptoms until they reach early adulthood.
Symptom #1: Café au Lait Spots
The name café au lait (coffee with milk) refers to the flat pigmented birthmarks that are light brown in color. The difference in skin color is caused by a collection of melanocytes that are present in the epidermal layer of the skin. These spots can grow or increase in size and are usually permanent.
While harmless, they can be associated with syndromes like McCune-Albright syndrome, Chediak-Higashi syndrome, Bloom syndrome, Noonan syndrome, Watson syndrome, tuberous sclerosis, and more. Having six or more café au lait spots is one of the diagnostic features of neurofibromatosis type 1.