Neurofibromatosis is a condition that occurs due to a genetic disorder. The condition leads to the formation of tumors on your nerve tissues. It can develop anywhere in the nervous system. So, you are prone to get affected by it on your nerves, spinal cord, and brain. The condition is visible in the childhood itself or in your early adulthood. Therefore, you need to get medical assistance to overcome the problem. Get comprehensive information regarding the condition from the article. Gaining valuable information can help you deal with the problem in an effective manner.
What Is Neurofibromatosis?
Neurofibromatosis can result in the development of noncancerous or malignant tumors in your nervous system. Usually, the tumors are benign in nature. You may not see visible symptoms at first. But, the tumor can develop and put pressure on the important nerves. So, it can result in problems like:
- Severe pain
- Loss of vision
- Hearing impairment
- Learning problems
- Cardiovascular problems (heart and blood complications)
Generally, the problem affects small children. Therefore, it is important to detect the issue and get treatment. Ignoring it may result in problems with growth and development of the children. Therefore, early management can avoid complications. Sophisticated medical techniques available can reduce the symptoms. Your doctor can advise the best therapies that can control the pain and reduce the symptoms. So, get medical help as early as possible.
Types Of Neurofibromatosis
The tumors are diverse in nature. The different types have diverse signs. So, read below to know more about its classification.
NF1
The type is also known as von Recklinghausen’s disease. You can also refer to it as peripheral neurofibromatosis. It is the most common type of neurofibromatosis. The problem occurs due to the mutation and not due to the NF1 gene deletion. One in three thousand people can get affected by the issue. The problem first causes birthmarks immediately after the birth of a child. It can escalate to tumors or lesion on or under the skin during late childhood. In rare cases, the tumors become cancerous in nature. Without proper treatment, it can cause serious complications. The majority of the cases can trigger minor complication. Therefore, with proper treatment, you can ease the complications.
NF2
Also known as bilateral neurofibromatosis, it stems due to the mutation due to the NF2 game. in the NF2 type, the tumor formation occurs in the nervous system within our skull. So, the tumors are also known as intracranial tumors. Spinal tumors known as intraspinal tumor occur during the condition. In most cases, the tumor forms in the vestibulocochlear nerve (8th cranial nerve). So, the problem can lead to hearing loss and balance. The symptoms for the condition arises in the late teens or early teens. The NF2 can become cancerous.
Schwannomatosis
Schwannomatosis is the rare form of neurofibromatosis that affects one in forty thousand people. It is genetically different from NF1 and NF2 type of tumors. It can develop on any tissue around the nerve. So, you can develop it anywhere in the body except for the vestibulocochlear nerve. The tumor has different characteristics compared to NF1 and NF2.
Symptoms Of Different Types Of Neurofibromatosis
The different types of neurofibromatosis can trigger diverse signs and symptoms in your body. So, read ahead to know the different signs indicating the health complication.
Neurofibromatosis Type 1
Neurofibromatosis 1 (NF1) is the problem that starts at an early age. So, you can notice the signs at birth or during early childhood. But, most signs can appear by the age of 10. The symptoms may vary from person to person. It mostly has mild or moderate signs.
Spots
The harmless appearing spots are the first signs of NF1. The flat spots light brown in color know as café au lait spots can appear at birth. It may sometime during the first years of a child’s life. It can spot appearing in early childhood. So, more than six such spots indicate the health problem.
Freckles
The freckling in specific areas like groin area or armpits can point towards NF1. It may appear by the age of three to five. The spots have smaller size compared to the café au lait spots. So, the spots can appear as clusters in the child’s skin folds.
Lisch Nodules
It is the tiny bumps appearing on the eye. Though it appears on the iris, your eye vision does not get affected. You cannot see the nodules with your naked eyes.
Skin Bumps
Pea-sized, soft bumps can appear on or under your skin. The bumps known as neurofibromas can also grow inside the body. The tumors are benign in nature. In some cases, the tumor can grow on multiple nerves. The issue referred to as plexiform neurofibroma can lead to disfigurement when it develops on the face. The tumors increase with age.
Bone Deformities
NF1 can trigger bone deformities. It can lead to abnormal bone growth. You can also experience bone mineral density deficiency. So, it results in bowed leg or curved spine deformities.
Optic Glioma
It is the tumor developing on the optic nerve. The tumor mostly develops by the age of three. In some rare cases, it appears in late childhood or adolescence. But, the problem never occurs in adults.
Learning Disabilities
NF1 can result in a mild learning disability. So, it results in mild impaired thinking skills in children. The problem ca trigger specific learning disability. So, children have issues learning mathematics or reading. In some children, the problem can lead to ADHD (Attention-deficit/hyperactivity disorder).
Large Head Size
Larger than average head size. Children with NF1 tend to have a larger than average head size due to increased brain volume.
Short stature.
Children affected by the problem often exhibit below average height.
Neurofibromatosis Type 2
It is not common like NF1. You can the signs or symptoms due to the tumor development in your ear. So, the individuals affected by the problem develop slow-growing tumors. It can go on both the ears. The tumors also are known as acoustic neuromas can result in hearing loss. The tumors can grow on the nerves responsible for hearing. The nerves carrying the sound and balance information can get affected by the vestibular schwannomas (tumors). So, it results in information not reaching the brain from the inner brain. The problem can appear in late teen or early adult years. The severity of the problem differs from one person to the other. But, the general signs can include:
- Ringing in the ears
- Poor balance
- Gradual loss of hearing
- Headaches
- Gradual hearing loss
In some cases, the NF2 can trigger the growth of schwannomas on the nerves on other parts of the body. So, the peripheral nerves, optic nerves, spinal cord or cranial nerves can get affected by the tumor. It can result in signs like:
- Pain
- Balance difficulties
- Numbness and weakness in legs or arms
- Cataracts development
- Other vision problems
- Facial Droop
Schwannomatosis
People above twenty years of age can get affected by the problem. most people can experience the signs between twenty-five and thirty years of age. Though the tumors appear on the nerves, it does not affect the nerve caring sound and balance information. Therefore, people suffering from the type of neurofibromatosis do not suffer from hearing loss. It has more chances of developing on the spinal, cranial, and peripheral nerves. It has different symptoms from people suffering from NF2. The signs of the issue include:
- You can experience chronic pain in different parts of the body. The agonizing pain can disable you.
- The issue can cause numbness or weakness in different parts of your body.
- It can result in loss of muscle
Causes Of Neurofibromatosis
The genetic mutation is the main reason behind the development of the tumor. It can occur at conception spontaneously or inherited from one of the parents. Depending on the type of neurofibromatosis, you can determine the specific gene involved.
NF1 Type
The NF1 gene is located on your chromosome 17. It can produce a protein. The protein known as neurofibromin regulates the cell growth in your body. As the gene becomes mutated, it results in loss of neurofibromin. So, it results in the uncontrolled growth of the cells.
NF2 Type
The chromosome 22 houses the NF2 gene. It can produce a protein called schwannomin (also known as Merlin). The protein has the ability to suppress the tumors. When the gene is mutated, it results in loss of Merlin. Therefore, it can trigger uncontrolled cell growth.
Schwannomatosis
The mutations in LZTR1 and SMARCB1 can lead to schwannomatosis. The gene can suppress the tumors in your body. So, the mutations can lead to neurofibromatosis.
Risk Factors Associated With Neurofibromatosis
The autosomal dominant inheritance pattern
The biggest risk factor for neurofibromatosis is a family history of the disorder. About half of people with NF1 and NF2 inherited the disease from the affected parent. People with NF1 and NF2 that don’t have affected relatives likely have a new gene mutation.
NF1 and NF2 are both autosomal dominant disorders, which means that any child of a parent with the disorder has a 50 percent chance of inheriting the genetic mutation.
The inheritance pattern for schwannomatosis is less clear. Researchers currently estimate that the risk of inheriting schwannomatosis from an affected parent is about 15 percent.
Complications Due To Neurofibromatosis
The complications due to the problem can vary from person to person. Even within the same family, you can observe different signs in people. The complications resulting from tumor growth. The growth can cause pressing on the organs or distort the nerve tissue. So, the complications due to neurofibromatosis depending on the type are:
NF1 Complications
Ignoring the NF1 can result in several complications in your body like:
- Vision problems
- Neurological problems
- Skeletal problems
- Issues with appearance
- Complication during hormonal change
- Breathing problems
- Cancer
- Cardiovascular problem
- Benign adrenal gland tumor (pheochromocytoma)
NF2 Complications
The complications due to NF2 differs from the NF1. So, people with the complication can experience severe issues like:
- Partial or complete hearing loss
- Vision problems
- Facial nerve damage
- Multiple benign brain tumors
- Numbness or weakness in the extremities
- Skin Schwannomas (small benign skin tumors)
- Spinal tumors (meningiomas)
Schwannomatosis Complications
You may experience severe pain due to schwannomatosis. The debilitating agony can restrict your daily functions adversely. So, you require immediate surgical intervention or pain management. You need to consult a specialist doctor to overcome the pain due to the problem.
Diagnosis Of Neurofibromatosis
Once you suspect the problem, you need to see a doctor immediately. The early intervention can prevent severe complication associated with neurofibromatosis. So, your doctor causes the following diagnostic method to detect the issue without a doubt:
Physical examination
The physical examination is to check your skin for spots. The doctor uses a special lamp to select the flat, light brown color spots (café au lait spots). It helps to diagnose the NF1 in the patients. Apart from the test, the doctor reviews the family history of the patient. The medical history of the self and family can reveal the presence of genetic problems. So, based on the observations, the doctor can order further tests.
Eye Examination
You need to undergo an examination by the eye doctor. it will reveal the presence of cataracts and Lisch nodules.
Hearing And Balance Exams
People suffering from NF2 can have problems with hearing and balance. So, a combination of tests can measure the hearing capacity. The test involved in assessing the hearing and balance problem is:
- Audiometry
- Electronystagmography
- Brainstem Auditory Evoked Response
Imaging Tests
The sophisticated imaging techniques like the MRI, CT scan or X-rays can provide visual images of the problems. So, it can reveal the following issues associated with neurofibromatosis:
- Very small tumors
- Tumors present in the brain
- Tumors in the spinal cord
- Bone abnormalities
The imaging tests are often helpful for monitoring the schwannomatosis and NF2. While the MRI can provide information on the optic gliomas.
Genetic tests
NF1 condition is positively diagnosed by the doctor with the appearance of two or more signs. When a child only one symptom and no prior family history of the problem, then the doctor monitor the child. It is to check for the additional signs as the child develops. By the age of four, the doctor can make a positive diagnosis. But, genetic testing can establish the diagnosis. The prenatal genetic testing for NF1 and NF2 can reveal expectant mothers about the condition. Unfortunately, genetic testing cannot reveal schwannomatosis. It is due to the fact that unknown genes get involved with the complication. Women can choose LZTR1 and SMARCB1 before getting pregnant.
Treatment For Neurofibromatosis
You need to understand that the condition has no permanent cure. The best you can do is to get immediate medical care. The sooner you or your child gets the professional help, the better the outcome. So, get the assistance of a trained doctor with neurofibromatosis specialization.
Monitoring
You need to undergo constant monitoring for NF1. The age-appropriate check-ups early can reveal the new developments. So, it aids in assessing the patient’s skin for new complication. It can also detect the changes in the existing issues. Therefore, your doctor monitors the following factors:
- Check the blood pressure. It is to detect the signs of elevated blood pressure.
- Evaluate the growth of the child with NF1. The developmental milestone including the head circumference, weight, and the height gets recorded. It is assessed based on the growth charts for children suffering from NF1.
- Detect signs indicating early puberty.
- Perform complete eye examination.
- Evaluate the child’s progress in school and learning development.
- Detect any abnormalities or skeletal changes in the child.
You also need to monitor the child closely. It is to contact your doctor immediately if you observe any signs in between your visits. Another significant factor is that the doctor must rule out the presence of a cancerous tumor. Getting appropriate treatment at the early stages can prevent severe complications.
Surgical Procedures
Different surgical procedures can treat the symptoms and complications associated with the condition. The following procedures opted by your doctor depending on the condition can provide relief:
Tumor Removal Surgery
Your doctor can suggest tumor removal. It can relieve the compression experienced by the nerves and surrounding tissues. It can also provide prevent the damage to organs due to the tumors. Depending on the type of neurofibromatosis you suffer, the doctor opts for complete or partial tumor removal. In most cases, complete tumor removal provides relief to people suffering from schwannomatosis.
Stereotactic Radiosurgery
It is the non-invasive procedure that requires no incision. The procedure delivers radiation on your tumor to reduce its size. It is the ideal option for people having acoustic neuromas. The NF2 condition can lead to hearing loss. So, the stereotactic radiosurgery can preserve the hearing.
Implants
The cochlear implants and the auditory brainstem implants can improve hearing. It is mostly advised for patients suffering from hearing loss due to NF2.
Cancer Treatment
It is for the malignant tumor associated with the condition. So, the doctor suggests the standard cancer therapies. Like other cancers, it is important to detect the issue early and get treatment. So, you can expect better outcomes with early treatment. The treatment options include:
- Surgery
- Radiation therapy
- Chemotherapy
Pain Management
The pain management is significant people who suffer from schwannomatosis. Therefore, your doctor can prescribe the medications to alleviate the discomfort you suffer. So, the following medications are provided:
- The doctor may suggest painkillers like gabapentin or pregabalin for managing the agony.
- Your doctor can also recommend tricyclic antidepressants depending on your condition.
- Some patients suffer epilepsy as a result of the condition. So, the doctor can prescribe carbamazepine or topiramate.
Coping And Support While Dealing With Neurofibromatosis
Dealing with patients who suffer from neurofibromatosis can pose a huge challenge. It is especially true for parents whose kids have the condition. But, with proper care, your child can have a healthy life. With early intervention, they may have only a few complications. But, it is important that you have ample support for yourself and your child.
Medical Support
Your first duty is to find a proficient primary care doctor. A trustworthy doctor who coordinates the treatment with other specialists can provide you with great help.
Academic Support
The problem can lead to learning disabilities. Therefore, you can join the academic support group to get good guidance.
Emotional Support
Dealing with a child with the condition can trigger emotional issues. Therefore, you can join a support group of like-minded people. The groups with parents who have children suffering from problems like ADHD, intellectual disability, chronic illness, or neurofibromatosis can help you. You also get help from friends or others to tackle the daily chores to get a break.
Conclusion
Getting treatment early can limit the complications of neurofibromatosis. So, if you suspect our child or close ones have the problem, then get immediate medical help. With better treatment, you lead a normal life without too much complication.
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