What's the difference between neurofibromatosis 1 and 2?

The NF1 gene makes a protein called neurofibromin, which regulates cell division in the nervous system and functions as a kind of molecular brake to keep cells from growing out of control. The gene for NF2 is located on chromosome 22. The NF2 gene product is a tumor-suppressor protein (called merlin or schwannomin).

How can you tell the difference between neurofibromatosis 1 and 2?

Neurofibromatosis Type 1, also called Von Recklinghausen's disease, is much more common than Type 2. NF1 is characterized by “cafe-au-lait spots” (light brown skin patches) as well as neurofibromas (benign skin tumors). These neurofibromas can grow on nerves and organs and need to be surgically removed.

What is the life expectancy of someone with neurofibromatosis type 2?

Tumours that develop inside the brain and spinal cord can place a strain on the body and shorten life expectancy. The average life expectancy for someone with NF2 is 65 years of age. Read more about treating neurofibromatosis type 2.

Which is more common NF1 or NF2?

Mainly, neurofibromatosis disorders affect the growth and development of nerve cell tissue. The disorders are known as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 is the more common type of neurofibromatosis.

Can NF1 turn into NF2?

They're very different conditions. NF1 can never become NF2 or the other way around, and a person can have only one type of neurofibromatosis. A third type of NF, schwannomatosis, is very rare. Most people with this type don't have symptoms until they're adults.

Neurofibromatosis Types 1 and 2

Does NF1 get worse with age?

Typically, adults with NF1 will develop more neurofibromas over time. They may grow for a period of time and then stop growing. In addition, they may change in shape or color as they grow. Sometimes, they can also be associated with itching or slight discomfort when bumped.

Can you have café-au-lait spots and not have NF1?

Can you have café-au-lait spots without having neurofibromatosis? Yes. It is very common for people to have a few café-au-lait spots on their bodies without having an underlying condition like neurofibromatosis type 1 (NF1).

Does everyone with NF2 go deaf?

An estimated one in 25,000 people is born with NF2, a hereditary tumor syndrome in which virtually everyone progresses to deafness because of vestibular schwannomas — tumors growing on the nerves responsible for hearing.

What does NF2 look like?

They may have café-au-lait spots, which are light brown pigmentation, the color of “coffee with milk”. This feature is similar to those individuals with Neurofibromatosis Type 1, but people with NF2 usually have fewer café-au-lait spots than people with NF1.

What are the 3 types of neurofibromatosis?

These tumors can develop anywhere in the nervous system, including the brain, spinal cord and nerves. There are three types of neurofibromatosis: neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2) and schwannomatosis.

Is NF2 curable?

Currently, NF2 can't be cured. Treatment involves monitoring. People with this condition are likely to have yearly MRI scans and hearing and vision tests as needed. Cataracts might be treated by surgery.

Can you live a normal life with neurofibromatosis?

Children and adults with NF1 can have a variety of symptoms and medical problems which can change across a lifespan. Most people with NF1 have a normal life expectancy. Because many of the other clinical features of NF1 develop as an individual gets older, getting the correct diagnosis may take several years.

Does NF2 cause blindness?

The NF2 condition is rare; the rare condition includes tumors and rare eye problems. The eye problems are uncommon enough that twenty-percent (20%) of vision loss of individuals with NF2 with a diagnosis of ocular abnormalities.

Does NF2 make you tired?

People with NF2 commonly report fatigue or extreme tiredness. This often follows treatment for a brain tumour and can continue even after you have fully recovered from the surgery. Whilst there is still uncertainty about the exact cause, there are several theories.

Can NF2 skip a generation?

Highlights. Neurofibromatosis type 2 (NF2), is a rare genetic condition, that does not skip generations. NF2 is a genetic, autosomal dominant condition. All individuals born with NF2 will develop tumors.

How is NF2 diagnosed?

These tests include the MRI (magnetic resonance imaging) scan and an audiometry, or hearing test. Often times, an ophthalmological (eye) exam is recommended. Genetic testing for NF2 can be done, but is a personal choice. It can be used to establish or confirm a diagnosis of NF2 when the situation is uncertain.

Who is most likely to get neurofibromatosis?

The only true risk factor for developing neurofibromatosis is having a parent who also has the condition. In nearly half of all cases of type 1 and type 2 neurofibromatosis, and in around 15 percent of schwannomatosis cases, the condition is passed down from parent to child.

Are neurofibromas painful?

A genetic disorder such as neurofibromatosis (NF) can cause multiple neurofibromas. Most of these tumors do not hurt or cause problems, but some neurofibromas itch or are painful, and some become tumors. Treatment consists of observation and, if necessary, medications or surgical removal.

Is neurofibromatosis a disability?

Although neurofibromatosis is a serious condition, the Social Security Administration (SSA) does not specifically list the disorder as a disability. But, the symptoms that accompany the condition can be reviewed for benefits.

What age is NF2 diagnosed?

NF2 is usually detected in early adulthood, with the average age of symptom onset being around 20 years.

What is the minimum number of cafe au lait spot that should be of concern?

The only significance to the cafe-au-lait spot is that it suggests the possibility that a person might have NF1. People with NF1 usually have many cafe-au-lait spots, sometimes hundreds, and almost always more than 6. It is generally accepted that NF1 should be suspected in any individual with 6 or more spots.

What is the minimum number of café-au-lait spots that should be of concern?

It is not unusual for a healthy child to have a few café-au-lait spots, and it is not recommended to provide an evaluation for NF1 if the spots are fewer than six in number. These spots also should be clear and distinct – finding very faint or small skin spots does not count towards the six spots needed for diagnosis.

Can NF1 be mild?

The symptoms of neurofibromatosis type 1 (NF1) are often mild and cause no serious health problems. But some people will have severe symptoms. The symptoms of NF1 can affect many different areas of the body, but it's unlikely someone will develop all of them.

Is NF1 life threatening?

In most cases, symptoms of NF1 are relatively mild, allowing patients to live normal and productive lives. However, the disorder can also be debilitating and, in some cases, life-threatening. NF1 can lead to problems within various systems, organs and functions of the body including: Skin, bone and eye abnormalities.

How do you get rid of NF1 bumps?

There is no known treatment or cure for neurofibromatosis or schwannomatosis. Medication can be prescribed to help with pain. In some cases, growths may be removed surgically or reduced with radiation therapy.