What does a person with neurofibromatosis look like?

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asked Apr 4 in Diseases Conditions by HappyNappin (2,120 points)
What does a person with neurofibromatosis look like?

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answered Apr 5 by Gemkow (7,780 points)
A person with neurofibromatosis will look mostly normal other than sometimes an enlargement and deformity of bones and curvature of the spine or scoliosis may be present.

A person with neurofibromatosis will also have multiple light brown spots concentrated in the groin and underarms and benign tumors under the skin.

The multiple light brown spots are called cafe au lait spots.

The skin manifestations of neurofibromatosis are brown freckling spots (café-au-lait macules) on the trunk, freckling in the armpit, brown dome shape lesions (neurofibromas) on the body, and brown pigmentations in the eyes (lisch nodules).

If neurofibromatosis is left untreated it can lead to learning impairment, heart and blood vessel, cardiovascular problems, hearing loss, severe pain and loss of vision.

Neurofibromatosis does not ever go away and there is no cure for neurofibromatosis although medication can help with the pain and some growths can be removed surgically or reduced using radiation therapy.

Neurofibromatosis can cause fatigue as well as extreme tiredness which often follows treatment for a brain tumor and can also continue even when you've recovered fully from the surgery.

The most common tumor in neurofibromatosis is astrocytoma, brain stem glioma and optic pathway glioma.

The most common malignancy in neurofibromatosis is intracranial gliomas and malignant peripheral nerve sheath tumors (MPNSTs).

The early stage of neurofibromatosis is multiple light brown (café-au-lait) spots concentrated in the groin and underarms and benign tumors under the skin and even enlargement and deformity of bones and curvature of the spine (scoliosis) can occur in the early stage of neurofibromatosis.

You can have neurofibromatosis and not know it as some and most cases of neurofibromatosis are mild and don't always show symptoms.

The organ that neurofibromatosis affects is the brain, spinal cord and the nerves which send the signals between your brain and spinal cord and other parts of the body.

The main cause of neurofibromatosis is mutations in the gene which controls the production of a protein called neurofibromin.

Neurofibromin 1 is a gene that is believed to function as a tumor suppressor.

A faulty gene can trigger and cause neurofibromatosis.

If the NF1 gene is faulty it leads to an uncontrolled growth that develops in your nervous system.

In half of the cases of NF1 the faulty gene is passed from a parent to their child.

Some neurofibromatosis are painful and itchy although some neurofibromatosis are not painful or itchy.

Most neurofibromatosis don't hurt or cause problems.

The mental effects of neurofibromatosis are higher levels of perceived stress, lower levels of self esteem, anxiety and depression.

The average lifespan of a person with neurofibromatosis is a normal lifespan although in more severe cases the average lifespan can be 10 to 20 years.

The mental symptoms of neurofibromatosis are depression, low self esteem and or body image, anxiety, social withdrawal, behavioral problems, difficulties in school and difficulty in forming interpersonal relationships.

Foods that you should not eat with neurofibromatosis are sugary foods, processed foods and sugary drinks.

You should eat a well balanced diet when you have neurofibromatosis which can help improve the condition and keep you healthy.

Legius syndrome is a condition that can be mistaken for neurofibromatosis as many of the signs and symptoms of Legius syndrome also occur in neurofibromatosis type 1 and it can be difficult to tell them apart in early childhood.

Although the features of Legius syndrome and neurofibromatosis differ later in life.

Neurofibromas at first look like several skin spots called cafe-au-lait or coffee with milk spots and are darker than surrounding skin.

NF1 manifests itself at birth or during early childhood and is characterized by multiple light brown (café-au-lait) spots that are concentrated in the groin and underarms and benign tumors under the skin.

Enlargement and deformity of bones and curvature of the spine (scoliosis) can also be present.

The characteristic features of neurofibromatosis type 1 are difficulty walking, balance issues, problems with facial expressions, ringing in the ears or tinnitus, hearing loss that can begin as early as the teen years and dizziness.

You can tell the difference between NF1 and NF2 by where the tumors occur.

NF2 tumors primarily affect your auditory nerves which connect your ears to your brain and control hearing and people with NF2 also can develop tumors in the nerves of their body.

In NF1 the tumors occur in the small nerves of the skin and the large nerves inside the body.

NF1 tumors may feel like weakness on one side of the body or personality changes.

The NF1 tumors don't always cause any noticeable symptoms but the tumors in certain parts of the brain sometimes cause symptoms such as the weakness on one side of the body and changes in personality.

NF2 is worse than NF1 as most often the symptoms of NF1 are mild and most people that have NF1 are able to lead full and productive lives.

NF2's outlook will depend on the persons age at the start of the NF2 condition and the number and location of tumors and some can even be life threatening.

People that are most likely to get NF2 is people who has parents or a parent that has NF2.

NF2 is a rare disorder which affects both males and females in equal numbers and all races and ethnic groups are equally affected as well.

It's estimated that 1 in 33,000 people worldwide are affected by NF2 and the symptoms typically become apparent during puberty and also early adulthood.

You can live a normal life with NF2 as the majority of people that have NF2 lead and live normal lives.

Nearly all NF2 patients do eventually go deaf because the tumors grow on the nerves that are responsible for hearing.

Neurofibromas first appear around adolescence but, by age 30, almost all people with NF1 will have several (and some have hundreds).

Neurofibromatosis type 2 is life threatening as tumors that develop inside the brain and spinal cord can put a strain on your body and shorten your life expectancy.

Most people with neurofibromatosis type 2 eventually lose their hearing completely and some people require the use of a wheelchair or other type of mobility device to get around.

The cause of death of neurofibromatosis type 2 is tumor burden.

Tumor burden is the number of cancer cells, the size of a tumor or the amount of cancer that is in the body which is also called tumor load.

The age that NF2 starts is around 20 years of age although it may start sooner or later.

The life expectancy of someone with NF2 is between 10 to 20 years although some people with NF2 have longer as it can depend on the persons age and overall health.

The symptoms of neurofibromatosis type 2 include balance issues, problems with facial expressions, Tinnitus or ringing in the ears, hearing loss that can begin as early as the teen years and dizziness.

The signs and symptoms of neurofibromatosis type 2 will most often appear during adolescence or in a person's early twenties, although the symptoms can begin at any age.

Neurofibromatosis type 2, also called NF2-related schwannomatosis, is a hereditary condition that is most commonly associated with bilateral vestibular schwannomas that is also known as acoustic neuromas.

These tumors are benign (noncancerous) tumors that occur on the nerves for balance and hearing leading to the inner ear.

The life expectancy of a person with neurofibromatosis type 2 is between 10 years to 20 years depending on the persons age.

People with neurofibromatosis type 2 typically present with tumor-related symptoms around 20 years of age.

The most common intracranial tumor associated with NF2 is vestibular schwannoma which is typically bilateral in these people.

And these people typically present with tinnitus, sensorineural hearing loss, and balance problems.

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