Neurofibroma is a type of nerve sheath tumor. It is an inherited disorder. Neurofibroma is a tumor or growth located along a nerve or nervous tissue. It is classified into 2 distinct types, neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2). NF1 occurs in about 1 in 3000 births whilst NF2 only occurs in about 1 in 50,000 births. NF2, also known as bilateral acoustic neurofibromatosis, is characterised by multiple tumours and lesions on the brain and spinal cord. Tumours growing on the auditory nerves that lead to hearing loss is usually the first symptom of the disease. NF1 and NF2 occur as a result of defects in different genes.
NF1 is caused by a mutation on a gene located on chromosome 17 and NF2 on chromosome 22. The mutated gene can be inherited from a parent who has NF or in some cases you could be the founder of a spontaneously mutated gene. A parent with NF has a 50% chance of passing the gene on to each of their children. Neurofibromatosis usually progresses. As the number of neurofibromas increases, more neurologic problems develop. People who have central neurofibromatosis develop tumors in the auditory nerves (auditory tumors, or acoustic neuromas) on both sides of the body.
The tumors may reason hearing loss and sometimes dizziness, as early as age 20. About one third of people with peripheral neurofibromatosis notice no symptoms. Neurofibromas that affect nerves in the head can cause blindness, faintness, deafness, noise in the ears (tinnitus), and incoordination. Medium-brown skin spots develop on the chest, back, pelvis, elbows, and knees. These spots may exist at birth or appear during infancy. Between ages 10 and 15, flesh-colored growths (neurofibromas) of varying sizes and shapes begin appearing on the skin. There may be fewer than 10 of these growths or thousands of them.
In many people, neurofibromas under the skin or an overgrowth of the bone under the neurofibroma produces structural abnormalities, such as an abnormally curved spine (kyphoscoliosis), rib deformities, inflamed long bones in the arms and legs, and bone defects of the skull, including the part surrounding the eyeball. There is no cure for NF. The major aim of treatment is to monitor its development and intervene when necessary. Solitary oral neurofibromas are usually treated by surgical excision, depending on the extent and the site. The genetic counseling is recommended when people with this disorder are considering having children.
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