Description

The Neurofibromatosis type 1 (NF1) is a genetic condition that causes changes in the pigment of the skin and tumors in the nervous tissue. Changes in the skin include flat, light brown spots and freckles in the armpits and in the groin. The tumors can grow in any part of the nervous system, including the brain, spinal cord and nerves. NF1 is rare. About 1 in 2,500 affected by NF1.

The tumors are often not cancerous, which are known as benign tumors. But sometimes they can become cancerous. Often, the symptoms are mild. But complications can occur and may include problems with learning, the heart and the blood vessels conditions, the loss of vision, and pain.

The treatment focuses on supporting the growth and development of healthy children and early management of complications. If the NF1 causes large tumors or tumors that press on a nerve, surgery may reduce the symptoms. A new drug available to treat tumors in children, and other new treatments are being developed.

Symptoms

The Neurofibromatosis type 1 (NF1) is usually diagnosed during childhood. The symptoms are observed at birth or shortly after, and almost always by the age of 10 years. The symptoms tend to be mild to moderate, but can vary from person to person.

The symptoms include:

  • Flat, brown spots on the skin, known as café au lait. These harmless spots are common in many people. But having more than six cafe au lait suggests NF1. They are often present at birth or appear during the first years of life. After infancy, the new spots longer appear.
  • Freckling in the armpits or the groin. Freckles often listed by ages 3 to 5. Freckles are small café au lait and tend to occur in groups in the folds of the skin.
  • Small spots on the iris of the eye, known as Lisch nodules. These nodules may not be easily seen and does not affect the vision.
  • Smooth, pea-sized bumps on or under the skin called neurofibromas. These benign tumors usually grow on or under the skin, but they can also grow on the inside of the body. A growth that involves many nerves is called a plexiform neurofibroma. Plexiform Neurofibromas, when located on the face, can cause disfigurement. Neurofibromas may increase in number with age.
  • Changes in the bone. The changes in the bone development and low bone mineral density can cause the bones to form irregularly. People with NF1 may have a curvature of the spine, known as scoliosis, or a bent lower part of the leg.
  • Tumor on the nerve that connects the eye to the brain, called the optic pathway glioma. This tumor tends to occur by the age of 3 years. The tumor rarely appears in late childhood and teenage, and almost never in adults.
  • Learning disabilities. It is common for children with NF1 to have some problems with the learning. Often there is a specific learning disability, such as problems with reading or math. Attention-deficit/hyperactivity disorder (ADHD), and speech delay, are also common.
  • Larger than average head size. Children with NF1 tend to have a higher-than-average head size due to the increased volume of the brain.
  • Of short stature. Children with NF1 are often below the average in height.

When to see a doctor

Consult a health professional if your child has symptoms of neurofibromatosis type 1. The tumors are not cancerous, and are slow-growing, but the complications can be managed. If your child has a plexiform neurofibroma, a drug for the treatment of the same.

Causes

Neurofibromatosis type 1 is caused by an altered gene that is passed on by parents or occurs at conception.

The NF1 gene is located on chromosome 17. This gene produces a protein called neurofibromin, which helps to regulate cell growth. When the gene is altered, there is a loss of neurofibromin. This allows the cells to grow out of control.

Risk factors

The greatest risk factor for the neurofibromatosis type 1 (NF1) is a story of family. About half of the people who have NF1, the disease is passed from parents. People who have NF1, and whose family members are not affected are likely to have a new change in a gene.

NF1 is an autosomal dominant pattern of inheritance. This means that any child of a parent who is affected by the disease has a 50% chance of having the gene is altered.

Complications

The complications of neurofibromatosis type 1 (NF1) vary, even within the same family. In general, complications occur when tumors affecting the nervous tissue, or press in the internal organs.

The complications of NF1 are:

  • The neurological symptoms. Problems with learning and thinking are the most common neurological symptoms associated with NF1. Less common complications include epilepsy and the accumulation of excess fluid in the brain.
  • Concern with appearance. The visible signs of NF1 may include generalized cafe au lait, many of neurofibromas in the facial area or large neurofibromas. In some people this can cause anxiety and emotional distress, even if they are not medically serious.
  • Skeletal symptoms. Some children have bones that are not as usual. This can cause bowing of the legs and the fractures that sometimes do not heal. NF1 can cause the curvature of the spine, known as scoliosis, you may need bracing or surgery. NF1 is also associated with a lower bone mineral density, which increases the risk that the weakness of the bones, known as osteoporosis.
  • Changes in vision. Sometimes, a tumor called an optic pathway glioma develops in the optic nerve. When this happens, it can affect the vision.
  • Increase in symptoms during times of hormonal change. Hormonal changes associated with puberty or pregnancy may cause an increase in neurofibromas. Most of the people who have NF1 have healthy pregnancies, but it is likely that the need for supervision by an obstetrician who is familiar with NF1.
  • Cardiovascular symptoms. People who have NF1 have an increased risk of high blood pressure and may develop blood vessels conditions.
  • Difficulty breathing. Rarely, plexiform neurofibromas can put pressure on the airways.
  • Cancer. Some people with NF1 develop cancerous tumors. These usually arise from neurofibromas under the skin or plexiform neurofibromas. People who have NF1 also have a higher risk of other forms of cancer. They include breast cancer, leukemia, colorectal cancer, brain tumors, and some types of cancer of the soft tissues. The breast cancer screening should begin before, at the age of 30 years, for women with NF1 compared with the general population.
  • Benign tumor of the adrenal gland, known as a pheochromocytoma. This non-cancerous tumor produces hormones that increase blood pressure. The surgery is often necessary to remove it.

Diagnosis

For the diagnosis of neurofibromatosis type 1 (NF1), a professional of the health begins with a review of your personal and family medical history and a physical examination.

The skin of your child is checked, cafe au lait, which may help in the diagnosis of NF1.

If it is necessary to perform other tests to diagnose NF1, your child may need:

  • Examination of the eyes. An eye exam can reveal Lisch nodules, cataracts, and vision loss.
  • Imaging tests. The X-ray, computed tomography or magnetic resonance imaging can help to identify the changes in the bones, tumors in the brain or in the spinal cord, and very small tumors. A magnetic resonance imaging can be used to diagnose optic gliomas.
  • The genetic testing. Genetic testing for NF1 can help in the diagnosis. Genetic testing can also be done in pregnancy before the baby is born. Ask a member of your health care team about genetic counseling.

For a diagnosis of NF1, at least two of the symptoms of the disease must be present. A child who has only a symptom and not the family history of NF1 is likely to be supervised by any other symptoms. A diagnosis of NF1 is usually done by the age of 4 years.

Treatment

There is a cure for neurofibromatosis type 1 (NF1), but the symptoms can be managed. Usually, before someone is under the care of a specialist trained in the treatment of NF1, the better will be the result.

Monitoring

If your child has NF1, often annual, age-appropriate screenings are recommended:

  • Check the skin of your child for the new neurofibromas or changes in existing ones.
  • Check if there are signs of high blood pressure.
  • Check your child's growth and development. This includes the measurement of height, weight, and head circumference compared with growth charts for children with NF1.
  • Look for signs of early puberty.
  • Look for any skeletal changes.
  • Check your child's learning development and progress in school.
  • Get a complete eye exam.

Contact your health care team right away if you notice any change in symptoms between visits. Many of the complications of NF1 can be effectively treated if therapy is initiated early.

Medicine

Selumetinib (Koselugo) is a treatment approved by the Food and Drug Administration for the plexiform neurofibroma in children. The medication can reduce the size of a tumor. Clinical trials of similar drugs are currently being made for children and adults.

Surgery and other procedures

The surgery to remove the tumors may be needed to treat severe symptoms or complications of NF1. The symptoms can be relieved by the removal of part or all of the tumors that are the compression of the surrounding tissues, or damage to the organs.

The treatment of cancer

Cancers associated with NF1 are treated with the standard anti-cancer therapies, such as surgery, chemotherapy and radiotherapy. The early diagnosis and treatment are the most important factors for a good outcome.

Potential future treatments

The researchers are testing gene therapies for neurofibromatosis type 1 (NF1). Potential new treatments might include the replacement of the NF1 gene to restore the function of neurofibromin.

Coping and support

Caring for a child with a condition, such as neurofibromatosis type 1 (NF1) can be a challenge. But many children with NF1 grow to live a healthy life with few complications.

To help you cope:

  • Find a healthcare professional that you can trust and who can coordinate your child's care with other specialists. The Children's Tumor Foundation has an online tool to help you find a specialist in your area.
  • Join a support group for parents who care for children who have NF1, ADHD, special needs or illnesses of all life.
  • Accept help for daily needs, such as cooking, cleaning or taking care of your other children or simply to take a needed break.
  • Find academic support for children who have learning disabilities.

Preparing for your appointment

You may be referred to a doctor who specializes in the brain and nervous system conditions, known as a neurologist.

It is a good idea to be well-prepared for your appointment. Here's some information to help you to be prepared and know what to expect.

What you can do

  • Write down a list of concerns, making a note of when you first noticed them.
  • A complete medical and family history with you if your healthcare provider doesn't already have it.
  • Write down key personal information, including any major stresses or recent life changes.
  • Make a list of all medications, vitamins or supplements that you or your child is taking.
  • Bring in photos of family members — living or dead — who have had similar symptoms.
  • Write questions to ask their health professional.

Its time for your appointment is limited. Prepare a list of questions can help you make the most of your time. A list of questions from most important to least important in case time runs out. For neurofibromatosis, some basic questions to ask include:

  • Do you suspect that the neurofibromatosis type 1?
  • What tests do you recommend?
  • What treatments are available?
  • How should the condition be monitored for changes?

In addition to the questions you have prepared, do not hesitate to ask other questions that occur to you.

What to expect from your doctor

It is likely to be a series of questions. Be ready to answer them may allow time later to cover other points you want to address. Your health care professional may ask:

  • When did you first notice the symptoms? Have changed over time?
  • There is a family history of neurofibromatosis type 1?
Symptoms and treatment of Neurofibromatosis type 1