Neurofibromatosis type 1: symptoms, causes, drugs, etc. • hello healthy

Definition

What is neurofibromatosis type 1?

Neurofibromatosis type 1 (NF1), also known as Recklinghausen's disease, is one of two types of tumors on the nerve fibers (NF1 and NF2). NF2 occurs less frequently than NF1.

NF1 is a genetic disorder that causes skin and bone disorders and causes tumors to form from nerve tissue. These tumors can be small or large and can appear anywhere in the body, such as the brain, spinal cord, nerves, and large or small nerves.

How common is neurofibromatosis type 1?

Neurofibromatosis type 1 is a rare genetic disease with an incidence of about 1 in 3,000. This disease usually appears from birth and symptoms or complaints often do not appear before the age of 10 years.

Neurofibromatosis type 1 is a disease that can happen to anyone. You can reduce your chances of developing this condition if you avoid the risk factors. Please discuss with your doctor for more information.

Signs & symptoms

What are the signs and symptoms of neurofibromatosis type 1?

The most typical symptom of neurofibromatosis type 1 is the appearance of coffee-colored spots, especially on the chest, back, and stomach. Clots usually appear from birth and vary in size.

Several different tumors grow in and under the skin. These tumors usually first appear in adolescence, and are 2.5 cm or larger in size. Large tumors can cause complications of malignant tumors (cancer).

Other symptoms of neurofibromatosis type 1 are spots that appear on areas of the body that are less exposed to sunlight (such as the armpits or groin), learning disabilities, low IQ, scoliosis, easy bone fractures, and high blood pressure.

Tumors at different places on the body cause a variety of symptoms. Tumors that develop on the head or spine can cause seizures, blurred vision, or weak legs (paralysis).

In addition, there are also some characteristics and symptoms that are not mentioned above. If you have the same complaint, consult your doctor.

When should I see a doctor?

If you experience any of the above signs or symptoms, contact your doctor immediately. Nerve disorders are usually benign and slow growing. Status and condition can vary from person to person, so always discuss with your doctor about the best method of diagnosis, treatment and treatment for you.

Cause

What causes neurofibromatosis type 1?

Neurofibromatosis type 1 is a genetic disease, but about 50 percent occurs due to a spontaneous mutation and occurs in families with no history of the disease.

Neurofibromatosis type 1 occurs due to mutations in chromosome 17. Typically, this gene produces a protein called neurofibromin to help multiply and regulate neuron development. Mutations on chromosome 17 will cause neurofibromin deficiency, and lead to uncontrolled cell development.

Risk factors

What increases my risk for neurofibromatosis type 1?

The biggest risk factor for neurofibromatosis type 1 is genetic, which means a family member with the disease. About half of cases of this disease are inherited from parents. The remaining cases are caused by a genetic mutation that occurs spontaneously at conception.

The absence of risk does not mean that you are free from the possibility of experiencing this disorder. The features and symptoms listed are for reference only. You need to consult a doctor for more information.

Medicines & Medicines

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are my treatment options for neurofibromatosis type 1?

There is no proven treatment, but there are some specific treatments to treat this condition. The doctor will monitor and treat complications such as:

• Children with learning problems need special programs. You can use physical therapy and occupational therapy. Physical therapy to help treat patients with scoliosis and fractures. Occupational therapy teaches patients to carry out daily activities.
• Surgery can help treat bone deformities. Scoliosis may require surgery and an armband for support. The painful tumor can be operated on, but it is still possible to recur. In addition, malignant tumors also require surgery, radiotherapy, or chemotherapy, depending on the case.

Test for neurofibromatosis type 1

The doctor will consider the family medical history, clinical examination, and vision tests. Your doctor will ask you to do an electrical test (EEG) to record brain waves to monitor for epilepsy. Children will be asked to test an IQ.

A biopsy may also be done if there is a risk of cancer. A biopsy is a procedure done to remove a small sample of the tumor for microscopic examination.

Home remedies

What are some lifestyle changes or home remedies for neurofibromatosis type 1?

Some of the healthy lifestyle changes and home remedies that can help you deal with neurofibromatosis type 1 are:

• Routinely carry out medical check-ups to monitor the development of symptoms and your health
• Follow the doctor's instructions, always follow when the doctor asks you to take or stop taking the medicine that was prescribed to you
• If you see coffee colored spots / spots or freckles on the armpits or groin; or have a nervous system problem (hearing loss, muscle weakness, or difficulty walking and loss of balance), call your doctor right away

If you have any questions, consult your doctor for the best solution to your problem.