Neurofibromatosis

 

Neurofibromatosis is a genetic disease that causes tumors to form along nerves, affecting the growth of nerve tissue cells. Neurofibromatosis tumors are usually benign, but can sometimes develop into malignant tumors and even cancer.

There are three types of neurofibromatosis, which affect both children and adults. Each type causes different symptoms. The most common type is neurofibromatosis type 1, which usually appears in childhood. Although neurofibromatosis cannot be cured, treatment can help control symptoms and allow people to live a more normal life.

Symptoms of Thao Saenpom

Thao Saenpom classified tumors that occur along nerves into 3 types, with each type of tumor having different symptoms as follows:

1. Neurofibromatosis Type 1 (NF 1)

This is the most common type of tumor. Symptoms usually appear in children, usually between birth and 10 years of age. It causes skin abnormalities and bone destruction. The skin has many tan or light brown spots, as well as soft lumps growing on or under the skin. Tumors can occur in the brain,  cranial nerves, or spinal cord.

Symptoms of this type of tumor range from mild to moderate and vary from person to person, including:

Light brown, smooth spots on the skin (Cafe Au Lait Spots)

These spots are harmless and common. If you have more than 6 spots, there is a high chance that you have thrush. These flat, light brown spots usually appear when a child is born or during the first year of life. After that, they remain on the skin for a long time.

Underarm or pubic area

When children are 3–5 years old, freckles may appear in the armpits, pubic area, or in skin folds. The freckles are smaller than the flat, light brown spots on the skin.

Lisch Nodules

The bumps that appear on the patient’s iris are usually not benign tumors. They are small and difficult to see. They do not affect the patient’s vision.

Tumors develop on the skin or under the skin.

Tumors usually begin during reproductive years. These tumors are noncancerous and can vary in size and number. They can sometimes be purple in color. Most tumors are painless, but they can be unsightly, make it difficult to wear clothes, and can irritate or cause skin pain.

However, if a tumor occurs on multiple nerves within the body, it may cause the skin to swell, or if the tumor on a nerve grows larger and is deep within the body, it may cause the patient to feel pain, weakness, numbness, bleeding, and change in bowel function.

Bone deformity

The patient’s bones will grow abnormally and lose minerals in bone mass, resulting in bone deformity, which the patient will have a scoliosis or bow legs.

Optic nerve tumor

Eye tumors usually occur in young children, rarely in late childhood or adolescence, and rarely in adults. Children under 7 years of age are at greatest risk for this condition. The tumors grow along the optic nerve, which transmits information from the eye to the brain. They are small, slow-growing, and rarely cause obvious symptoms.

However, if the tumor spreads quickly, it will affect vision, such as blurred vision, changes in perception, reduced vision, squinting  , or one eye seeing more clearly than the other. For young children, parents should observe closely for vision problems, as children cannot speak or describe their symptoms. Parents should take their children for an eye examination at least once a year until the child is 7 years old to examine the tumor.

Having problems learning

Children with this type of tumor will have abnormal learning skills  such as reading, writing, numbers or making connections. The symptoms are not severe. Children may have intelligence that is normal or slightly lower than the general population. Therefore, they can study from basic courses like the general population.

In addition, children may have behavioral problems, such as Attention Deficit Hyperactivity Disorder  (ADHD). Children will be restless, restless, have difficulty concentrating, and are impulsive.

Has a larger than normal head size

Children with this type of tumor tend to have larger-than-average head sizes because their overall brain tissue is larger.

Dwarf

Children with neurofibrosis type 1 often have shorter stature and are stunted.

2. Neurofibromatosis Type 2 (NF 2)

This type of tumor is less common than the first type. It usually occurs in teenagers or people in their early 20s. The symptoms of the tumor are a lump that gradually grows inside the auditory nerves on both sides. The tumor grows along the nerves that conduct sound and help maintain balance in the inner ear. Symptoms can vary depending on the level of severity. Patients will gradually lose their hearing  , hear a buzzing sound in the ears, lose their balance and have headaches.

In addition, type 2 schwannoma can lead to the growth of schwannoma tumors that affect other nerves in the body, including the cranial nerves, spinal cord, optic nerves, and peripheral nerves. Patients may experience numbness and weakness in the arms or legs, pain, difficulty balancing, facial and mouth crookedness  , vision problems, or cataracts.

3. Schwannoma (Schwannomatosis)

This type of schwannoma is considered a rare tumor. It usually occurs in people over 20 years of age. Schwannoma tumors occur in the cranial nerves in the skull, spinal cord, and peripheral nerves. The tumor does not occur in the auditory nerve area, so it does not affect the patient’s hearing.

However, this type of tumor can cause chronic pain that affects different parts of the body, as well as cause numbness or weakness in certain organs and muscle loss.

The cause of Thao Saenpom

Neurofibromatosis types 1 and 2 are genetically inherited, with more than half of people with neurofibromatosis inheriting the disease from a family member. However, approximately 50 percent of people with neurofibromatosis are diagnosed with neurofibromatosis caused by a mutation in the gene at the time of fertilization between the sperm and the egg.

The most important risk factor for neurofibromatosis types 1 and 2 is a family history of the disease. If a parent with the disease has a child, the child has a 50 percent chance of inheriting the gene. As for patients with schwannomas, it is not known for certain, but it is estimated that there is a 15 percent chance of inheriting the gene from a parent.

Diagnosis of Thao Saenpom

Diagnosing thrush involves several methods of examination. The doctor will start by examining the patient and family’s medical history. Each type of thrush is diagnosed differently, as follows:

Diagnosis of neurofibromatosis type 1

Doctors will make a diagnosis based primarily on the symptoms of this type of tumor. Patients will be diagnosed with this type of tumor when at least two of the following symptoms appear:

• Six or more smooth brown spots appear on the skin. In prepuberty, the spots are 1.5 centimeters or larger, while in children, the spots are 0.5 centimeters or larger.
• Two or more tumors of this type appear on the skin, usually the size of a pea.
• There are spots under the armpits or pubic area.
• A tumor develops on the optic nerve.
• Two or more bumps appear on the iris.
• Bone abnormalities such as bow legsand scoliosis
• Family members have a history of this type of tumor.

Diagnosis of neurofibromatosis type 2

Doctors will diagnose a patient with this type of tumor by considering whether the tumor is non-malignant along the nerves that help with hearing and balance in the inner ear and by considering the patient’s family history, whether the patient has this type of tumor inherited or not. In addition, the family has a history of being sick with at least 2 of the following health problems:

• Glioma, or brain tumor, is a tumor that arises from the cells that surround nerve cells.
• Meningioma​
• Schwannoma
• Cataracts, which occur during adolescence

In addition, the doctor may perform additional tests, such as:

Imaging Tests

Your doctor may order an X-ray , a CT scan  , or an MRI  , which can help identify bone abnormalities, tumors in the brain or spinal cord, and other small tumors. An MRI can also help identify gliomas.

Vision screening

Doctors will use it to check for iris nodules, cataracts  , and vision loss in patients.

Hearing and balance testing

Hearing and balance tests are commonly used to diagnose patients with neurofibromatosis type 2. These include audiometry, an electronystagmography (EEG) test to assess the patient’s balance and movement, and an electroencephalogram (EEG) to measure the brain’s response to sound stimulation.

Genetic Testing

Parents can have their baby’s neurofibromatosis screened while they are still in the womb using genetic testing .  This method can be used to diagnose neurofibromatosis types 1 and 2 if there is a family history of the disease.

Treatment of Thao Saenpom

Although there is no cure for varicose veins, treatment can help control the symptoms. In general, patients who receive care from a doctor who specializes in the condition experience significant improvement in their symptoms. Treatment for varicose veins includes:

Patient care

Treatment and management of tau sen pom disease depend on the type of tumor that occurs. People with type 1 tumors usually have mild symptoms and can live a normal life. However, the pain that occurs can cause them to lose their ability to do their daily activities.

Caring for children with leprosy can help children have good mental health and grow up to live normal lives with little or no complications. Parents can take their children to see a doctor who can help with child care along with other specialists, and find a school that supports learning for children with learning disabilities .

Symptom monitoring

If a patient with a type 1 tumor has a lump, the doctor will recommend that the patient come for a yearly health check-up as follows:

• Examine the patient’s skin to see if new tumors or changes have occurred.
• Check for symptoms of high blood pressure
• Measure physical growth for pediatric patients, including height, weight, and head circumference, by comparing with the growth chart for children with type 1 tumors.
• Check if your body is entering reproductive age too early.
• Consider any changes or abnormalities in the bones.
• Assessing children’s learning skills in school
• Eye examination

If any changes in symptoms occur during each visit, the patient should immediately inform the doctor, as this will help identify the potential for malignancy, allowing the patient to receive timely and appropriate treatment.

Drug treatment

Patients with schwannoma may be treated with medications to relieve the pain of the disease, such as gabapentin and pregabalin   to relieve nerve pain, as well as tricyclic antidepressants and  anticonvulsants .

Surgery and other medical procedures

If the patient develops severe symptoms or complications of the disease, surgery or other medical procedures may be required, as follows:

• Tumor Surgery: Patients whose tumors compress tissue or destroy organs, or patients with type 2 tumors who have lost their hearing, their brainstem has been compressed, or the tumor has grown large will undergo tumor removal surgery. The doctor will remove some or all of the tumor, which will help relieve symptoms. For patients with schwannoma tumors who undergo surgery, the pain will be greatly reduced.
• Stereotactic Radiosurgery (Stereotactic Radiosurgery) Patients with type 2 tumors are treated with stereotactic radiosurgery, in which the doctor delivers radiation to the tumor. This method can help protect the patient’s hearing.
• Hearing aidimplants in the brainstem and cochlear implants. Patients with type 2 tumors who have lost their hearing are treated with hearing aid implants in the brainstem and cochlear implants, which help patients hear better.
• Cancer treatment in various ways. Patients with malignant tumors that turn into cancer will receive basic cancer treatment methods such as surgery, chemotherapy ,and radiation. The sooner they are diagnosed and treated, the more effective the treatment will be.

Complications of Thao Saenpom

Complications of tumours that occur in each patient are different, even if there are family members who have the disease. Generally, tumors that grow and destroy nerve tissue or press on internal organs cause complications, which are divided according to the type of tumor as follows:

Complications of neurofibromatosis type 1

Patients with this type of tumor will have the following complications:

• Neurological problems: Patients have abnormal learning and thinking skills, which are common neurological problems in patients with this type of tumor. They may also experience seizures orexcessive fluid in the brain, which are uncommon complications.
• Appearance concerns: People with thawsaenpom will have brown spots on their skin or tumors on their face and other parts of their body. Although these are not serious medical problems, these characteristics affect the patient’s mood, causing them to feel anxious and distressed.
• Bone problems in pediatric patients cause bowed legs and fractures or scoliosis, which require treatment with back braces or surgery, as well as a high risk of osteoporosisdue to reduced bone mineral content.
• Vision problems due to optic nerve tumors
• Hormonal changes are a problem because patients will experience higher levels of hormonal changes, which may be caused by puberty, pregnancy, or menopause. Therefore, pregnant women with this type of tumor need to receive care from an obstetrician who specializes in this disease, even if they have a healthy pregnancy.
• Cardiovascular problems: As patients are at high risk of having high blood pressure,however, vascular problems are uncommon.
• Breathing problems: Tumors that grow along nerves in the body can cause narrowing of the airways, but this is rare.
• Cancer Patients with this type of tumor may have a tumor that is malignant, accounting for 3-5 percent of patients. Malignant tumors are usually tumors that grow under the skin or tumors that grow along nerves in the body. Patients are also at high risk of other cancers such as breast cancer, leukemia, brain tumors, and certain types of soft tissue cancers.
• Pheochromocytoma, a benign adrenal tumor. If a patient has a tumor in the adrenal gland, the tumor will release hormones that cause high blood pressure. The treatment for this tumor is to surgically remove the tumor.

Complications of neurofibromatosis type 2

For patients with neurofibromatosis type 2, complications of this tumor include loss of hearing or complete deafness, damage to facial nerves, vision problems  , the development of non-malignant schwannomas on the skin, severe numbness and weakness. In addition, many tumors that grow in the brain or spinal cord require frequent surgical removal.

Complications of Schwannoma

Patients with schwannomas with tibial stenosis experience pain, difficulty sleeping , and fatigue. Surgery may be required to treat or manage the symptoms of the disease by a specialist.

Protection of Thao Saenpom

Neurofibromatosis is a genetic disease. If a patient with neurofibromatosis or a family member who has the disease wants to have children, they should see a doctor for consultation and planning to have children. They should undergo genetic testing to find the abnormalities of neurofibromatosis type 1 and type 2.

In addition, if there is any doubt about the transmission or transmission of the gene that causes such tumors, you can see a doctor who specializes in genetics to receive advice about the symptoms of the disease for each patient.