Neurofibromatosis is a collective name for several different hereditary diseases characterized by the growth of benign tumors along nerve tissue. The most common type is called neurofibromatosis type 1 (NF1), and occurs in one person in 2000-3000. Neurofibromatosis type 2 is significantly rarer, and is seen in about 1 person in 30000-40000. NF2 is also called bilateral acoustic neuroma or central neurofibromatosis.
There is currently no specific treatment. Many symptoms and complications can be treated successfully, and regular medical check-ups are important to detect these as early as possible.
NF1
NF1 occurs in all ethnic groups and is equally common in men and women. The symptoms of the skin, eyes, nervous system and skeleton are very variable and differ even between affected individuals in the same family. Some symptoms during childhood while others come in adulthood.
Symptoms can include; café au lait spots, optic glioma, skeletal abnormalities, elevated blood pressure, short stature, large head circumference, epilepsy and tumor diseases.
NF2
In NF2, tumor growth is seen along nerves in the central nervous system, and in the most typical form, tumors are seen on both auditory nerves. The first symptom is increasing hearing loss that usually starts in the late teens or young adulthood. In exceptional cases, symptoms can appear as early as childhood. The risk of other tumors in the central nervous system and cataracts is increased.
The tumors in NF2 are benign in themselves, but the location in the central nervous system means that many patients have severe complications form the disease, especially hearing loss and damage to the facial nerve. Tumors on the membranes of the brain and along the spinal cord also occur, which can cause significant problems.