Neurofibromatosis – types, causes, symptoms, diagnosis, treatment

Neurofibromatosis is a genetic disorder. Neurofibromatosis forms tumors on the nerve cells. These tumors are formed on the nerves of the brain, spinal cord.  It also affects the soft tissue and bones.

These tumors are benign tumors but sometimes due to some reasons become malignant tumors. Their symptoms are harsh. In this disorder, the tumors are formed under the bottom layer of the skin (subcutaneous). These tumors are also called neurofibromas. There are three forms NF1, NF2, and schwannomatosis


The NF1 type neurofibromatosis is spread in 3500 people. The NF2 type neurofibromatosis is spread in 25000 people. Schwannomatosis is spread in 40000 people of the United States. In these 3 conditions, all males and females affected equally. The symptom of NF1 appears at the age of 10 and in some people, the symptoms are appeared in the normal life.

The symptoms of NF2 appear at the teenage young and the higher chance of death occurs in NF2.  The symptoms of schwannomatosis are appeared at the early age of the child and with the passage of time the symptoms are severe. In schwannomatosis, life is not influenced by the actions.



This type mostly occurs in children sometimes at the time of birth and sometimes at the age of 10 years this type of disease symptoms appeared. Their symptoms are harsh to bear. Their symptoms depend on the tumor’s severity.


The spots are formed on the skin which is flat in appearance and light brown in color. These spots are harmful to many people. More than six light brown spots are a strong indication of NF1 Type. These spots usually appear at the time of birth and afterward the 5 years of life. These spots are formed at the side of the armpits area. Freckles (it is a brownish spot) are smaller than the flat light brown spots. These freckles are found in the form of clusters.  Small nodules are formed on the eye part i.e. iris. These nodules are not dangerous and cannot be seen easily. It does not affect the vision of the human. This type is found in 1 to3000 births. In this type 3 to 15% risk of forming cancerous tumors.


This type has a lower rank than the type NF1.In this type, the tumors are formed on both ears. These tumors are benign tumors i.e. slow-growing tumors. These tumors are formed on nerves that carry the sound and effectively arrange information from the ear to the brain.


Their symptoms appeared at the age of ten years and early adult ages. Their symptoms are a slow way of hearing loss, ringing the ears, poor balanced information, and headache. In this type, tumors are formed on the brain and spinal cord. This is found in about 1 to 50000 births. This type is also called bilateral acoustic neurofibromatosis or central neurofibromatosis.


In this type, the tumors are formed on the Schwann cells part of the nervous system. These tumors are called a schwannoma. Schwannoma grows on the peripheral nerves throughout the body. These tumors appeared over the age of 30.


in this type, multiple tumors are formed on the nerves throughout the body. Extremely severe pain is the main symptom of Schwannomatosis.  This pain occurs when the tumor becomes larger and presses the tissues of the body. To identify the cause of pain for some people is not easy.

The other symptoms are numbness and weakness of the skin due to the nerves and spinal cord formation process.  It also includes the problem in urinating, facial weakness; headaches, numbness, vision changes, weakness, and where the tumors are present swollen areas are formed under the skin.

Causes of the neurofibromatosis types

Neurofibromatosis disease including NF1, NF2 types is caused by the problems in different genes.


this effect is produced by the mutations in the genes which are present on the pericentromeric region of the chromosome no 17. The cytoplasmic protein is coded in chromosome number 17 which is called Neurofibromin. Neurofibromin protein stops the appearance of tumors which leads to the difference of the cell from one shape to the other.

If this protein is absent then in the embryo of the cell tumors are formed. All these signs show the presence of NF1 neurofibromatosis. The Neurofibromin protein releases the Adenylyl cyclase which has an essential part in the process of thinking, learning, and remembering.


in this type, the disease is caused by the mutation on the chromosomal no 22.  Chromosome number 22 has the protein which is called the cytoplasmic protein. The mutations in the chromosome cause mutations which stop the appearance of the gene. The dark broadband formed on the tail which is blue in male and brown in females is caused by the cytoplasmic protein.

When this protein stops the function, it leads to tumors in the person. These muted genes consisting of chromosome no 17 and 20 are inherited from the parent who has an autosomal transmission. Causes the spontaneous mutations in the genes. A parent who is affected by NF has chances of 50% off passing the mutated genes in every child.

These mutated genes cause the loss of neurofibromas protein. This protein consists of 2818 amino acids. This protein causes the cells to grow in an uncontrolled manner. This disease appears in the families which have a change in the sperm-egg. These gene changes cause the mutations


its causes’ severe debilitating pain and nerves are unable to perform the normal function of the body. In this type the mutation on the SMARCB1 gene. It also stopped the appearance of the tumors.

Complications of neurofibromatosis


The common problems are learning and thinking disabilities. The most uncommon problems are epilepsy and the excess amount of fluid in the brain. The large flat light brown spots and many neurofibromas cause anxiety and emotional stress. In NF1 type the children have skeleton problems. In NF1 type the children have DE structured bones that are formed which results in the fracture or bowing of the bones.

NF1 decreases bone mineral density which leads to osteoporosis i.e. weak bones are formed. In children, the tumor is formed in the optic nerve of the eye i.e. optic Glioma disease. This disease affects the vision of the eye. These diseased children have vision problems. The NF1 type women have healthy pregnancies if women are treated with the physician which has a good understanding of neurofibromas.

The NF1 is also associated with the hormonal changes at the time of puberty and pregnancy. The NF1 has the risk of high blood pressure which leads to cardiovascular problems. Cardiovascular causes the narrowing of the blood vessels which leads to airway cancer in the children. The breathing problem is also associated with NF1. Neurofibromas develop under the skin which leads to cancerous tumors.


In this type, a vision problem occurs. Partial or total deafness has occurred. Facial nerves are damaged. Small benign tumors are formed under the skin which causes the weakness in the skin and the face is damaged. Requires different surgeries for the removal of tumors.


Doctor uses a special light to check the skin to see the flat light brown spots. These spots diagnosed that the patient has NF1 neurofibromatosis. The doctor takes the family medical history and takes personal history and starts the examination. Doctors recommended the additional tests for the diagnosis of the NF1, NF2, and schwannomatosis. Advertisement for this disease is done not for profit or loss mission.

In an electronystagmography test the doctor measures the electrical signals which carry the messages from the inner ear to the brain part. The brainstem auditory memory responses help to judge the hearing problem and balanced information problem. This auditory response is associated with the people who have NF2 type disorder.

To identify the bone abnormalities, very small tumors, and tumors in the brain and spinal cord with the help of imaging, X rays, CT scans, and MRI tests. To detect the optic Glioma eye disorder MRI is used. To diagnose Schwannomatosis and NF2 neurofibromatosis doctors use imaging tests. Genetic tests are also done by the doctors to diagnose the NF1, NF2 neurofibromatosis.

The doctor guides the patient with genetic counseling. Schwannomatosis is not diagnosed with genetic tests because in this the unknown gene is involved. Before having a child, the women select two genetic tests.

Risk factors

People with the NF1 and NF2 types are inherited. And the other half people with the NF1 and NF2 neurofibromatosis the diseases are not inherited those results from the new gene mutations. Both types of neurofibromatosis disorders are dominant which means that a child from the parent has 50% chances to inherit the genetic mutation.

The remaining risk factors are the result of the unexpected chromosomal mutations. The neurofibromatosis is a genetic disorder so it is not joining with the controllable risk factors. If the risk factors are not combined with the upcoming risk factors, then type 1 and 2 neurofibromatosis is the risk factor for the other people and separates the neurological conditions.

The people who are diagnosed by type 1 neurofibromatosis are at a higher risk of developing meningioma, Glioma, and schwannoma. The people who have type 2 neurofibromatosis are at the highest risk of developing vestibular schwannoma, spinal cord ependymoma, and meningioma. The people have both type 1 and 2 neurofibromatosis; the slightly high malignant cancerous tumors are formed on the peripheral nerves sheath. The people who have above all these conditions about 90% do not develop cancer among individuals.


There is no treatment for the cure of neurofibromatosis. The flat light brown spots do not require any treatment and also there is no cure for the NF. The treatment depends upon the symptoms which cause the disorder.

For the following options treatment is necessary: The tumors are removed with the help of the surgery. If the tumor is cancerous or malignant then chemotherapy or radiations are required for the removal of the tumors.

For bone deformities i.e., bone problems like scoliosis disease the surgery is done. In the treatment different therapies are used like physical therapy counseling and supporting groups. The people who can’t see the surgery are done for the removal of tumors.

Treatment for neurofibromatosis NF2 type

The treatment of NF depends upon the symptoms of the patient. The symptoms of the patient are the following: For balanced information that is passed to the brain is treated by the process of physical therapy and occupational therapy and also treated the inner ear system i.e., vestibular system. CNS i.e., peripheral tumors are treated by observing the patient’s symptoms. Surgery is also used and drug therapy is done.

By removing the tumors surgery is needed. If the cancerous tumors i.e., malignant tumors are developed along with the arms, legs, and main body parts then these tumors are removed by the process of surgery. The tumors that are formed on the free endings of the inner ear then cochlear implantations are required.

These tumors are developed along with the eight cranial nerves i.e., on both sides of the head. These tumors cause hearing loss. Due to hearing loss, the balanced information is not passed to the brain. The specialized surgeons control the NF by the process of plastic surgery and neurosurgery. The pain is treated by the medicines.

Treatment for neurofibromatosis type 1

This treatment also depends upon the symptoms of the patient. Following are the symptoms and treatments of NF1: The behavioral therapy of the patient is done by the specialized physicians and drug therapy is also done in the clinic by the surgeons. In the NF1 type neurofibromatosis, the drug is used which is called selectin.

This drug shrinks the tumors in Childs and teenage young. This drug also lessens the pain in the bones that are fractured due to the disorder. It increases the ability to walk from one place to another place of the patient. The patients of age are 50 and also the age of the patient is 2 to 18. In the NF1 type the tumors are not cancerous or benign tumors which are formed under the skin. It causes pain that’s why the drug is used.

This drug shrinks the large tumor. These tumors cause the problem in walking and breathing. For the first time this drug shrinks the tumors. If this drug affected the patient, then this drug is stopped their effects are controllable. In other treatment of NF1 to observe the patient and judge the condition of the patient. Surgery is also used for some tumors but NF1 is also treated by the process of radiation therapy and chemotherapy in a few of the tumors.

Treatment for schwannomatosis

Although there is no fully cured treatment of neurofibromatosis. For schwannomatosis, the treatment is required or may not depend upon the symptoms of the patient. The schwannomatosis is treated without operation including the observation of the patient and imaging is done regularly of the patient. In this way, tumors are also removed. The tumors that are spread on the whole nerves are treated with the help of operation.

 Nursing management

Nurse takes the detailed history of the patient. The nurse examines the important signs and symptoms. Nurses also examine the patient’s symptoms and inject the antibiotic injections into the vein. Nurses balance the input and output charts and give the suggestions that this type of patient does not drink cold drinks and exhibit to take fat food.

If diabetes mellitus is observed in the patient, then the nurse frequently examines the blood sugar and applies the insulin to the patient. The patients tell the complaint of the discomfort. The patient which is not moved for a long time bears serious pain and discomfort. The very less amount of food is taken by the patient which reduces the nutritional level.

Decreased nutritional level leads to tiredness and weakness in the patient. In the hospital the patient’s sleeping timing is disturbed which leads to dizziness. The therapies which are not producing effect to the patient due to the lack of knowledge about the disorder raise many questions that the doctor did not do the work properly. If the management is not good then the danger of injury and brain damage due to the use of not legal work by the nurses.


The medicine should be taken regularly as the doctor prescribed and the medicine takes from time to time, do not miss the dose. The patient also follows the doctor’s advice.


The patient takes the diet which is healthy and this food helps to prevent the disease and any type of complications. The doctor asked the patient to take the protein diet, free of sugar diet, and the diet which has no fat. The patient uses the diet plan chart for the nutritional management which is prescribed by the nutritionist and the patient avoids non-vegetarian food.

Home care

The patient has a complete type of rest. Done the regular exercise as the doctor advised and also avoid lifting heavy things. The patient lives in a clean environment and uses the mask to prevent disease.

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