Neurofibromatosis: Diagnosis and Treatment

Neurofibromatoses are hereditary diseases. Doctors characterize them by the formation of benign tumors in:  

 

• skin;
• soft tissues;
• nervous system;
• internal organs. 

 

Doctors can diagnose this disease based on patient examinations. They can also detect tumors with MRI and CT scans of the spinal cord, brain, and internal organs. Neurofibromatosis therapy is symptomatic. Doctors treat it with tumor resection, radiotherapy, and chemotherapy. Neurologists distinguish six types of neurofibromatosis. 

Types I and II are clinically significant. Common symptoms include:

 

• neurofibromas on the skin;
• tumors of the spinal roots;
• tumors of the auditory and optic nerves;
• pigment spots;
• bone deformities.

 

The disease’s prognosis depends on the disease’s degree of spread. But in most cases, it is relatively favorable. But, we should not forget that many skin manifestations can cause discomfort to a person. It is especially true for women anxious about their beauty and face. 

Thus, the development of tumors in the face can lead to depression. Psychotherapists must also correct it. Read our article to get more useful information about neurofibromatosis medication.

 

Neurofibromatosis Diagnosis

The basis for diagnosing neurofibromatosis type 1 is the presence of spots. Their number is more than six spots of light brown color. They occur during intrauterine development and in the first couple of months of life. The characteristic signs of the disease are pigment spots in:

 

• groin;
• armpits;
• on extremities. 

 

Family history is of great importance in the diagnosis of the disease. Doctors also pay attention to the results of the general examination of the patient. A specialist can suspect neurofibromatosis diagnosis in the following cases:

 

• the presence of more than two neurofibromas in the patient;
• more than five coffee-colored pigment spots;
• hamartomas of the iris;
• presence of an optic nerve glioma or neurofibromatosis of the auditory nerve;
• neurofibromatosis in close relatives of the patient.

 

There are many serious reasons for the neurofibromatosis treatment:

 

• a subcutaneous neurofibroma;
• spinal schwannoma;
• cloudiness of the eye lens.

 

Before proceeding with the examination with diagnostic equipment, the physician should:

 

• gather a medical history;
• examine visible signs;
• inspect skin pigment spots and tumors.

 

A neurological examination to assess the coordination of movements is mandatory. During the examination, doctors use the following methods for neurofibromatosis diagnosis:

 

MRI or CT scan

Doctors use magnetic resonance imaging and computed tomography to visualize:

 

• the spine;
• internal organs;
• brain. 

 

These methods accurately determine the size and localization of tumors. Imaging techniques can identify the presence of a neurofibroma here. Bilateral neurinomas of the 7th pair of cranial nerves are diagnostic criteria.

Gliomas, schwannomas, and meningiomas are often detected. Neurologists characterize type I by the development of plexiform, normal neoplasms, and gliomas.

 

X-rays

To determine the degree of scoliosis, doctors perform spine radiographs. Neurologists perform procedures for neurofibromatosis therapy to confirm and assess the severity:

 

• scoliosis;
• atrophy;
• hypertrophy of bone tissue;
• local thickening and erosion of bone structures. 

 

Physicians also observe:

 

• thinning of the cortical layer;
• false joints;
• sphenoid wing dysplasia;
• arched curvature of the tibia and fibula;
• cysts of the long bones.

 

Electrocochleography and Impedancemetry

The examination allows you to determine the localization. Doctors will also see the cause of the abnormalities in the patient’s auditory system. They need it for giving neurofibromatosis medication. Electrocochleography and impedancemetry are useful when the auditory nerves have tumors. 

There are complaints of increasing deafness (hearing loss). The results show decreased hearing acuity and the presence of auditory neuropathy. They also determine the cause and location of the disorder.  

 

Ophthalmoscopy

Ophthalmoscopy is a method of examining the eye fundus. It allows you to evaluate the retina and optic nerve. Neurofibromatosis therapy of type 1 has many consequences:

 

• plexiform neurofibroma of the eyelids;
• melanocytic hamartomas of the iris;
• gliomas of the optic nerve fiber;
• astrocytic hamartoma of the retina;
• corneal nerve thickening;
• neurofibroma of the conjunctiva;
• ischemic lesions of retinal veins.

 

The pathognomonic sign is light-colored spots on the fundus and iris (hamartomas). In posterior subcapsular cataract type 2, doctors can notice the eye’s lens clouding.

It is one of the main diagnostic methods. Sometimes doctors use hardware tests, genetic screening, and genealogical analysis.

 

Treatment for Neurofibromatosis

Only professional symptomatic supportive treatment is available to sick people. Since there are no effective cures for the disease. It helps to overcome the various symptoms and complications:

 

• When tumors compress organs, surgical intervention can be necessary.
• In 10% of cases, patients can develop cancerous neoplasms. In these cases, the use of chemotherapy is appropriate.
• Patients with lesions of the musculoskeletal system use rehabilitation measures. That’s why some doctors recommend physiotherapy and physical exercises.
• Supportive monitoring therapy also works well. It helps in cases of slowly progressing disease. There are cases where it stays in the same position for the rest of your life. 
• Medication neurofibromatosis therapy can also show good results. But, it is important to understand that this is a symptomatic treatment. It works well for non-aggressive variants of the disease.

 

Read more about neurofibromatosis therapy below:

Monitoring

With this method, doctors constantly track the patient. The person undergoes all necessary procedures at regular intervals. It is necessary to determine the progress of the disease. Physical therapy can also be one of the supportive options. It works great with:

 

• children;
• people with mobility impairments;
• patients with scoliosis.

 

Most optical gliomas are asymptomatic. So doctors need to check only size increases. Chemotherapy is the therapy of choice for:

 

• progressive optic gliomas;
• malignant lesions of the central nervous system.

 

Neurofibromatosis Medication

Doctors use medication to treat neurofibromatosis. But their prescription refers only to symptomatic treatment. They do not reduce the problem itself. Doctors use the following medications:

 

1. Ketotifen. This drug refers to anti-allergic drugs and has a membrane-stabilizing effect;
2. Fencarol. The drug does not depress the CNS. But you can observe a weak sedative effect in rare cases. The drug has a good antipruritic effect. Therefore, doctors prescribe it to people with itching in the disease clinic;
3. Tigazole. This drug contains vitamin A. There are no contraindications to the use of the drug. People with hepatic or renal failure should take it with caution. And also, be careful in case of individual intolerance to the component;
4. Lidase. It contains hyaluronidase as the active ingredient. It is an enzyme, the action of which goes at hyaluronic acid. The treatment for neurofibromatosis has many advantages:

• it increases tissue permeability;
• it Improves tissue tropism;
• it increases the elasticity of scarred areas;
• it promotes the resorption of hematomas and eliminates contractures.

 

The doctor prescribes these medications strictly on an individual basis. As it is not rational to use the above drugs in every case.

 

Surgery 

Since neurofibromatosis causes significant cosmetic defects, many patients need plastic surgery. You can quickly get rid of the growths with radiation neurofibromatosis therapy methods:

 

• gamma knife;
• cyberknife.

 

It is a modern non-invasive technique. It is based on the use of radiation in the optical range. The doctor’s medical laser is of the highest quality. The laser heats the affected cells at high temperatures. Then they turn into a jelly-like substance and die off. In addition to its effectiveness, laser treatment has a pronounced cosmetic effect.

Doctors can help you get rid of neurofibromas in just a few sessions. For patients, this neurofibromatosis therapy is completely painless. There are no side effects or complications after treatment.

 

Cryodestruction

Also, tumors and Lisch nodules are often treated surgically with cryoablation. Cryodestruction is a local method of removing neoplasms under sub-zero temperatures. Surgery for neurofibromatosis is necessary to relieve the patient’s condition and remove cosmetic defects.

 

When You Should See a Doctor

You need a genetic test for neurofibromatosis treatment. If you have the gene responsible for the progression of the disease, go to the doctor. However, it’s important to know that this is a very expensive test for neurofibromatosis diagnosis. If you don’t have the opportunity to have this test done, you may have the following symptoms:

 

• The characteristic symptom of type 1 is hyperpigmentation. 
• In type 2, highly differentiated tumors are formed. They are more aggressive than in type 1 disease. There are no pigment spots.  
• Neurofibromatosis type 3 is characterized by many neurofibromas, accelerated neurolemmas development, and optic nerve gliomas, leading to visual impairment. 
• In type 4 disease, the symptoms are similar, and the risk of damage to the optic fibers remains. 
• Type 5 can cause pigmented dark spots and large tumors. They provoke asymmetry in the body.
• Type 6 has only pigment spots. 

 

What to Expect From the Doctor 

You will hear positive prognoses with a high probability of success in neurofibromatosis therapy. Since science and medicine do not stand still. Scientists are making a lot of discoveries, so the chances of a good and stable life are great. 

Scientists are actively developing etiologic treatments for neurofibromatosis. Therapy with RAS inhibitors (tumor growth activator proteins) in people with neurofibromatosis type 1 is at the stage of clinical trials. Genetic engineering methods are under theoretical development. 

The efforts of geneticists are aimed at:

 

• creating and introducing in patients the normal gene NF1. It is responsible for the synthesis of neurofibromin;
• deciphering and introducing the gene FN2, which ensures the transcription of the schwannomas protein. 

 

Some medical centers are attempting to use neurofibromatosis treatment based on the combined use of mast cell membrane stabilizers, antiproliferative drugs, and enzymes that correct metabolic processes.

 

Сontact Lone Star Neurologists

First of all, you should make an appointment to see a dermatologist for a neurofibromatosis diagnosis. Ask for help at our Lone Star Neurology clinic. The doctor will examine you and prescribe further therapy. We have the best professionals who love their job!

 

FAQs 

• How to stop neurofibromas from growing?

Use preventive measures to reduce the progression of the disease. Doctors do not treat neurofibromatosis because it is a mutation in a gene. There is only symptomatic treatment, which is tailored individually.

• Is neurofibromatosis type 1 fatal?

Yes, there is a possibility of death with this type. But, if you go to a doctor in time, you will greatly reduce it.

• Does neurofibromatosis worsen with age?

No, it will not worsen with proper treatment. So ask professionals for the right help beforehand.