Is neurofibromatosis type 2 fatal?
NF1 causes tumors to form in various tissues and organs of the body. This causes skin problems and bone deformities. NF2, on the other hand, causes tumors to develop on the brain and spinal nerves. Although most tumors caused by NF are not cancerous, they can still be dangerous and impair your quality of life.
What is the prognosis for neurofibromatosis type 2?
Prognosis. NF2 remains a life limiting and life spoiling condition. Patients diagnosed prior to 1990 had only a 15 year life expectancy from diagnosis [1, 64]. Improvement in management and early diagnosis are improving these outcomes but many people with NF2 still die very young.
Does neurofibromatosis worsen with age?
Neurofibromas may increase in number with age. Bone deformities. Abnormal bone development and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or a bowed lower leg. Tumor on the optic nerve (optic glioma).
Can people with NF2 have children?
About 1 in 3 people with NF2 have a form of the disease called mosaic NF2. The symptoms of mosaic NF2 are milder and often restricted to a certain area or side of the body. People with mosaic NF2 have lower than the usual 50% risk of having a child with NF2.
Do all NF2 patients go deaf?
Most patients with neurofibromatosis type II (NF-II) will eventually encounter bilateral deafness, creating an obstacle to social life.
Are all brown spots cafe au lait?
The name café-au-lait spot is derived from the French term for coffee (café) with milk (lait) because they usually have a light brown color. These spots are always darker than the surrounding skin regardless of ancestry or race.
Can you have NF1 and NF2?
It’s extremely rare that someone would have both NF1 and NF2. Here are some notable clinical differences between NF1 and NF2: NF2 is more rare than NF1, which affects 1 in every 3,500 births.
Does NF2 have cafe au lait spots?
People with NF2 generally have fewer brown spots (café-au-lait) on the skin than those who have NF1. Affected individuals may also experience spasms of the facial muscles; generalized muscle weakness, numbness, pain, and/or partial paralysis; difficulty swallowing; and/or impaired speech.
Does NF2 cause pain?
In NF2, benign tumors called schwannomas grow on nerves throughout the nervous system and often cause impaired hearing and vision. In NF1, benign tumors called neurofibromas cover the peripheral nerve and, similarly, may cause pain or specific neurologic symptoms.
What is the life expectancy of a person with NF1?
The life expectancy of a person with NF is approximately 8 years less than that of the general population. Lifetime risks of both benign and malignant tumors are increased in individuals with neurofibromatosis type 1 (NF1).
How many people are affected by neurofibromatosis NF2?
This rare disorder affects about 1 in 25,000 people. Approximately 50 percent of affected people inherit the disorder; in others the disorder is caused by a spontaneous genetic mutation of unknown cause. The hallmark finding in NF2 is the presence of slow-growing tumors on the eighth cranial nerves.
What are the current treatment options for NF2?
NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy. Surgery remains the focus of current management although watchful waiting with careful surveillance and occasionally radiation treatment have a role.
How many skin tumours are there in NF2?
About 70% of NF2 patients have skin tumours, but only 10% have more than ten skin tumours. The tumours appear to be of at least three different types. The most frequent type is a plaque-like lesion, which is intra-cutaneous, slightly raised and more pigmented than surrounding skin, often with excess hair.
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