What is neurofibromatosis type 1?


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Know the basics

What is neurofibromatosis type 1?

Neurofibromatosis type 1 (NF1), also known as Recklinghausen disease, is one of two types of nerve fibers tumor (NF1 and NF2). NF2 is rare than NF1. NF1 is a genetic disorder that causes abnormalities of the skin and bones and cause tumors formed from neural tissue. These tumors can be small or large and can occur 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 (NF1) is a genetic disease is not common with incidence of about 1 / 3,000. NF1 usually begin at birth and symptoms usually appear before age 10. The disease can occur in all people. You can limit your ability to disease by reducing the risk factors. Please consult your doctor for more information.

Know the symptoms

What are the symptoms of neurofibromatosis type 1?

Some patients with NF1 only displayed both characteristics of skin abnormalities such as milk coffee colored spots with flat surfaces mainly in the chest, back and abdomen. Blobs usually appear from birth and varied in size.

Many different tumors growing inside and under the skin. They usually first appear in adolescence close. We have a lot size from 2.5 cm or larger. Large tumors can deform or complications of malignancy (cancer).

Other symptoms include freckles appear in places less exposed to the sun (such as the armpit or groin), learning disabilities, lower IQ, scoliosis, brittle bones and high blood pressure.

Tumors are in different places on the body, causing various symptoms. Tumors develop in the head or spine can lead to seizures, loss of vision or weak legs (paralysis).

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you notice the signs or symptoms of nerve fibers in human tumors you or yourself, you should contact your doctor immediately. U nerves usually benign and slow growing. However, the location and condition can vary in many people. Always discuss with your doctor to be appointed diagnostic methods, treatment and the best treatment for you.

Know the causes

What causes neurofibromatosis type 1?

Neurofibromatosis type 1 is a genetic disease, but about 50% due to spontaneous mutations occur in a family with no history of disease. Neurofibromatosis type 1 occurs because of a mutation in chromosome number 17. Normally, this gene produce a protein called neurofibromin help diversify and regulate the development of neurons. When mutation in chromosome 17 happens will cause a shortage of neurofibromin, leading to the development of cell uncontrollably.

Know the risk factors

What increases my risk for neurofibromatosis type 1?

The biggest risk factors for NF1 is genetic, meaning that families with sick people. About half the cases of this disease is inherited from parents. The remaining cases are caused by genetic mutations occur spontaneously at conception.

Understand the diagnosis & treatment

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

How is neurofibromatosis type 1 diagnosed?

Your doctor will consider family medical history, clinical examination and eyesight test. Your doctor may perform electrical (EEG) to record the brain waves to examine epilepsy. Children will be tested IQ. Biopsies can also be carried out if cancer risk. A biopsy is a procedure that removed a tumor in small to microscopic examination.

How is neurofibromatosis type 1 treated?

There is no explicit treatment, but these special treatments can control the symptoms of nerve fibers u type 1. Doctors will monitor and treat these complications occur, such as:

  • Children with learning disability 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 perform daily activities.
  • Surgery may help treat bone deformities. Scoliosis may need surgery and armbands to support her. These tumors have pain and deformity can be surgically cut away but they may recur. With malignant tumors need surgery, radiotherapy or chemotherapy, depending on the case.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage neurofibromatosis type 1?

The following lifestyles and home remedies might help you cope with neurofibromatosis type 1:

  • Re-examination appointments for monitoring progression of symptoms as well as your health.
  • Listen to the guidance of a doctor, not arbitrarily medication not specified or arbitrarily abandon prescription medication was prescribed for you
  • If you see coffee stains or freckles in the armpits or groin appear; or have nervous system problems (hearing loss, muscle weakness, or difficulty walking and balancing), contact your doctor immediately.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.


Review Date: May 30, 2016 | Last Modified: January 4, 2017

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