Neurofibromatosis Type 1 (NF1) and Neurofibromatosis Type 2 (NF2) are hereditary disorders that are transmitted as autosomal dominant traits. Fifty percent of children born to an affected parent will inherit the condition, but new mutations are responsible for over 30 to 40% of diagnoses.
NF1: NF1 can be diagnosed in 1 of 3000 live births by the presence of at least 6 brown, flat, pigmented skin lesions called café-au-lait spots, axillary or inguinal freckling, Lisch nodules (small nerve tumors visible in the iris of older children and adults) and characteristic bony deformities, such as congenital sphenoid wing dysplasia (a bone of the skull base) or a pseudoarthroses (“false joint” in the tibia bone of the leg) in young children. Children are at risk for learning and behavioral disabilities such as attention-deficit hyperactivity disorder (ADHD), benign and malignant peripheral nerve tumors (plexiform neurofibromas, schwannomas and malignant peripheral nerve sheath tumors); as well as brain tumors that primarily affect the optic or visual pathways. Older patients may develop numerous, often disfiguring benign skin tumors called dermal neurofibromas.
NF2: NF2 has an incidence of 1 in 40,000 people and is not easily diagnosed at birth. Symptoms usually present in early adulthood with hearing impairment due to benign tumors called vestibular schwannomas (formerly called acoustic neuromas) growing around the eighth cranial nerve, which is responsible for hearing and balance. Most patients eventually become deaf either before or after surgical removal of the tumors. Hearing can be partially restored with new technological innovations simulating hearing and connected to either the brainstem or hearing nerve in the cochlea. NF2 patients frequently also develop other benign brain and spinal cord tumors such as meningiomas and ependymomas, as well as benign tumors of the peripheral nerves.
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