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Neurofibromatosis is a genetic disorder group that leads to tumors forming on nerve tissues.
The tumors can develop anywhere in the nervous system during the health condition, including nerves, brain, and spinal cord.
Primarily the neurofibromatosis disorder affects the development of nerve cell tissue.
These genetic disorders include two types one is known as neurofibromatosis type 1 (NF1), and the other is known as neurofibromatosis type Neurofibromatosi2 (NF2).
Schwannomatosis has also recently been recognized as the rarest and third type of Neurofibromatosis, but there is less information about it.
NF1 is the most common type of Neurofibromatosis. It is also known as Recklinghausen disease, which causes multiple tan patches or light brown skin and neurofibromas that are the fleshy growths on or under the skin.
It can also lead to deformed or enlarged bones and spine curvature. Occasionally the tumors may develop in the brain, spinal cord, or cranial nerves.
Around 50 to 75 percent of people with NF1 also experience learning disabilities.
NF2, also known as bilateral acoustic Neurofibromatosis, is much less common than the first type and is often characterized by multiple tumors on the spinal and cranial nerves.
“It is estimated that 85% of cases have no known cause (spontaneous) and 15% are inherited.”
Symptoms of Neurofibromatosis
The common symptoms of NF1 include:
- Many Cafés au lait spots
- Tiny growth in the iris of the eye
- Multiple freckles in the groin area or armpit
- NF occurs on or under the skin
- Tumors along the optic nerve that may lead to eyesight issues
- Bone deformities
- Nerve related pains
- High blood pressure
- Learning disabilities
- Short stature
- Large head size
People with NF2 experience the below-mentioned symptoms
- Hearing loss
- Face muscle weakness
- Poor balance
- Uncoordinated walking
Symptoms of Schwannomatosis
- Numbness and tingling of toes or fingers
- Pain from enlarging tumors
- Chronic pain
- Muscle loss
- Weakness in toes and fingers
Causes of Neurofibromatosis
The disease is often inherited, but it is also true that around 50 percent of the people newly diagnosed with the health condition have no family history of the disease.
This is because it can also be due to gene mutations. Once this modification takes place, one can pass the mutant gene on to future generations.
The mutations that often lead to Neurofibromatosis include:
The NF1 gene on chromosome 17 makes a protein known as neurofibromin that controls the development of cells. The mutation of this gene leads to uncontrolled cell development and neurofibromin loss.
The NF2 gene on chromosome 22 makes a protein known as schwannoma or merlin that suppresses tumors. The modifications in this gene lead to merlin loss and uncontrolled cell development.
The mutations of two genes associated with schwannomatosis, LZTR1, and SMARCB1, suppress the tumors linked with this type of Neurofibromatosis.
Diagnosis of Neurofibromatosis
The diagnosis of Neurofibromatosis involves several tests. This includes:
- Medical history
- Physical examination
- Family history
- CT scans
- Neurofibromas Biopsy
- Eye tests
- Genetic Testing
- Tests for specific symptoms
To verify the diagnosis of NF1, a person must have the following features:
- Six or more café au lait spots
- Two or more neurofibromas of any type
- Optic Glioma
- Freckling in groin or armpit
- A first degree relative with NF1
- Two or more Lisch nodules
- A distinctive body lesion, sphenoid bone dysplasia, or long bone cortex thinning.
To be diagnosed with NF2, a patient must have
- Bilateral vestibular schwannomas or family history of NF2
- Multiple Meningiomas
- Any neurofibromas
- Juvenile cataracts
- Gradual hearing loss
- Balance issues
- Ringing in the ears
Schwannomatosis is diagnosed based on
- If you are 30 years or older and have no evidence of vestibular tumors on an MRI scan.
- If you have one schwannoma confirmed by a first-degree relation or biopsy.
- If you have a type known as segmental schwannomatosis
Treatment of Neurofibromatosis
There is no appropriate cure for the disease, but the treatments focus on controlling the symptoms. There is no standard treatment for the illness as several symptoms do not even require any treatment. And when the cure for relieving symptoms is essential, the options may include:
- Surgery to eradicate issue developments or tumors
- Surgery for bone issues
- Treatment includes radiation or chemotherapy if the tumor has turned cancerous.
- Stereotactic radiosurgery
- Cataract removal surgery
- Auditory brainstem and cochlear implants
The complications of the disease may vary from person to person.
The possible complications of NF1 include:
- Neurological issues
- Anxiety or distress with modifications to the appearance
- Skeletal issues
- Vision issues
- Issues during the hormonal changes
- Cardiovascular issues
- Breathing issues
- High cancer risk
- Benign adrenal gland tumor
However, the possible NF2 complications include:
- Deafness or partial hearing loss
- Nerve damage in the face
- Vision issues
- Benign skin tumors
- Numbness or weakness
- Harmless spine or brain tumors
The outlook and treatment of the disease depend upon the NF type a person has.
However, the symptoms of NF1 are often mild, and people with the health conditions are also able to deal with it while leading a productive life.
Still, sometimes the deformity and pain can lead to a significant disability.
As far as the NF2 is concerned, its treatment depends upon the age the disease starts and on the other factors, including the location of tumors. So some can be life-threatening too.
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