Neurofibromatosis
Neurofibromatosis refers to a benign tumor that grows along the nerve cells in a body. Its symptoms appear as tumors on the skin, under the skin, or deeper in the body and develop from an inherited condition.
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Neurofibromatosis Defined
Neurofibromatosis appears as a benign tumor that grows along the nerve cells in the body. This tumor belongs to a group of rare, inherited conditions. Neurofibromatosis patients may get tumors on their skin, under their skin, or deeper in their bodies. Importantly, most of these cases do not result in medical complications. Although some neurofibromatosis can affect multiple nerves and cause serious medical problems, this does not usually occur except in rare situations. Healthcare professionals use surgery to remove these tumors.
Neurofibromatosis is classified into three types: (NF1), (NF2), and (NF3). NF1 is typically diagnosed in childhood, whereas NF2 typically becomes diagnosed in adolescence or early adulthood. Tumors in these disorders are usually noncancerous, but they can become cancerous on occasion. Symptoms are frequently mild. However, complications can include hearing loss, learning impairment, heart and blood vessel problems, vision loss, and severe pain. Treatment for neurofibromatosis also focuses on encouraging healthy growth and development in children with the disorder, as well as early management of any complications.
Our doctors at Medical City Children’s Orthopedics and Spine Specialists treat neurofibromatosis. Surgery can alleviate symptoms when the condition causes large tumors or tumors that press on a nerve. Other therapies, such as stereotactic radiosurgery or pain medications, may help some patients. Scientists continue to conduct research and a new medication to treat pediatric tumors was recently approved. Additional other new medicines are in the works.
Neurofibromatosis Affects Whom?
Although neurofibromatosis is inherited, it can take years for tumors to become visible. Doctors see the condition more in patients in their adolescence. Neurofibromatosis Type 1 (NF1) affects about one in every 3,000 children and usually gets diagnosed by the age of ten. Furthermore, about 25% of those children develop tumors large enough to cause serious medical problems.
QUESTIONS AND ANSWERS
What is Neurofibromatosis (NF), and how did my child get it?
Neurofibromatosis is a genetic disorder that can be inherited or occur spontaneously due to a genetic mutation. There are three types of NF: NF1, NF2, and Schwannomatosis. NF1 is the most common type and is caused by a mutation in the NF1 gene. Most cases of NF are inherited, but about half of affected individuals have no family history of the condition, as it can also result from a new mutation.
What are the symptoms and complications my child may experience with NF?
The symptoms and complications of NF can vary widely. Common symptoms of NF1 include café-au-lait spots, neurofibromas (benign tumors), and learning disabilities. Complications can include skeletal issues, vision problems, and an increased risk of developing certain tumors, like optic pathway gliomas or plexiform neurofibromas. Regular medical checkups and monitoring are essential to identify and manage potential complications early.
How can we best support and care for our child with NF?
- Caring for a child with NF involves a multi-faceted approach. It’s important to work closely with healthcare professionals, such as pediatricians, neurologists, and genetic counselors, who are experienced in managing NF. Here are some key aspects of care:
- Regular medical check-ups: Frequent monitoring is crucial to detect and address any complications promptly.
- Early intervention: Early identification and support for learning and developmental challenges are vital.
- Emotional support: NF can have an emotional and social impact, so providing emotional support and connecting with support groups can be beneficial.
- Genetic counseling: Families considering more children may seek genetic counseling to understand the risk of passing NF to future offspring.
It’s important for parents to have open communication with their healthcare providers and to educate themselves about the specific type of NF their child has. Every child’s experience with NF is unique, and a personalized approach to care and support is essential.
If your baby is born with Neurofibromatosis, call us and our team will help your baby
What are the Effects?
Neurofibromatosis affects people differently depending on the type, size, and location of the tumor. Some forms result in small lumps or patches of thickened skin. Unfortunately, other types are more severe and can affect people’s internal organs and spinal cords.
Is Neurofibromatosis a Cancerous Condition?
The majority of neurofibromatosis is not cancerous or malignant. However, approximately 10% of all cases can progress to cancer.
What are the Symptoms?
Neurofibromatosis symptoms vary depending on the type, size, and location of the tumor. For instance, some people with the condition may never experience symptoms. However, this condition will occasionally result in serious medical problems such as paralysis or blindness. The following provides information about its types and symptoms:
- Cindary neurofibromatosis: These small lumps can appear anywhere on a person’s body. These tumors typically affect people between the ages of 20 and 40. If you press on these tumors, they may itch and hurt.
- Diffuse neurofibromatosis: This tumor appears on people’s heads and necks, causing a raised area of thickened skin that tingles or feels numb when touched.
- Plexiform neurofibromatosis: This type develops on nerve groups. Over time, these tumors can grow into very large lumps on or under children’s skin. Pressure on their spinal cord or peripheral nerves can cause paralysis, weakness, or numbness. In some kids with plexiform neurofibromatosis, tumors push against the spine and result in juvenile scoliosis.
What is the Appearance of Neurofibromatosis?
Neurofibromatosis that develops on or beneath the skin differs greatly from plexiform neurofibromatosis, which can develop deeper in the body. Neurofibromatosis can manifest as:
- Localized neurofibromatosis: These appear as flesh-colored nodules that commonly appear on the trunks, heads, necks, arms, and legs of people. These tumors are approximately the size of a pea. They’re soft and squishy — if you push on one of these tumors, it will sink into the skin and then pop up after you stop pushing. Medical practitioners refer to this as the “buttonhole sign.”
- Diffuse neurofibromatosis: This condition appears as a raised area of reddish-colored skin.
- Plexiform neurofibromatosis: These tumors resemble large lumps of flesh protruding from the body. Doctors say that these tumors resemble a sack of worms under the skin.
What is Type 1 Neurofibromatosis?
One in every 3,300 newborns is born with Neurofibromatosis Type 1 (NF1). Other signs and symptoms include:
- Café-au-lait spots: These are large patches of light brown or coffee-colored skin that grow in size over time.
- Iris benign growths: The colored part of your child’s eye.
- Optic pathway gliomas are tumors in the vision nerve.
Schwannomatosis
This rare form of neurofibromatosis typically affects people over the age of 20. Symptoms typically appear between the ages of 25 and 30. Schwannomatosis causes tumors to form on the cranial, spinal, and peripheral nerves — but almost never on the nerve that transmits sound and balance information from the inner ear to the brain. Because tumors rarely grow on both hearing nerves, people with schwannomatosis do not experience the same hearing loss as people with NF2. Schwannomatosis symptoms include:
- Chronic pain can occur anywhere in the body and can cause incapacitation.
- Numbness or weakness in various areas of the body.
- Muscle loss.
What Factors Contribute to Neurofibromatosis?
A mutation or alteration in the NF1 gene results in neurofibromatosis. The NF1 gene contains instructions for producing a protein known as neurofibromatosis. A tumor suppressor protein, which ordinarily stops cells from growing or dividing too fast or uncontrollably, contributes to this condition. Also, it does this via regulating the ras protein, a protein that encourages cell division and proliferation.
When the NF1 gene mutates, it no longer inhibits cell growth, allowing cells to multiply and become tumors. Thus, children can inherit NF1 if one of their parents has a genetic mutation. Unusually, the mutation could have been passed down from one of their parents to that parent. In addition, about half of those who have NF1 have no family history of the disease.
Risk Factors:
A family history of the disorder appears as the most significant risk factor for neurofibromatosis. Approximately half of those with NF1 and NF2 inherited the disease from an affected parent. People with NF1 and NF2 who have no affected relatives are likely to have a new gene mutation. Both NF1 and NF2 are autosomal dominant disorders, which means that any child of a parent with the disorder has a 50% chance of inheriting the genetic mutation. The schwannomatosis inheritance pattern is less clear. Currently, researchers estimate that the risk of inheriting schwannomatosis from an affected parent is about 15%.
How do Medical Professionals Identify Neurofibromatosis?
Healthcare professionals often use a physical examination to identify neurofibromatosis:
CT scans and magnetic resonance imaging (MRI): Doctors utilize these tests to find extremely tiny tumors and those tumors causing problems to adjacent tissues or organs.
PET scan: Doctors use this test to identify the location of tumors.
How is this Condition Treated?
Healthcare professionals can treat neurofibromatosis in a number of methods, including:
- Monitoring: If tumors are benign (noncancerous) and not causing problems, your doctor may recommend regular check-ups to look for changes.
- Plastic surgery: Your child’s doctor may advise you to have benign tumors on the surface or beneath the skin removed.
- Surgery: Surgery: If your child has neurofibromatosis that presses on his or her bones or organs, your doctor may recommend surgery to remove as many tumors or as much of a tumor as possible without damaging any organs or tissues.
Neurofibromatosis Surgery Complications
The side effects of neurofibromatosis surgery vary depending on the procedure. For example, surgery to remove skin tumors will have different side effects than surgery to remove spine tumors. If you are considering surgery, ask one of our specialists about the potential outcome and side effects.
Preventing Neurofibromatosis
Neurofibromatosis indicates a sign of a genetic disorder. That means you can’t stop these tumors from growing.
What can I Expect from Neurofibromatosis?
In general, neurofibromatosis has little to no effect on those who have it. However, people who have a lot of these tumors or visible tumors may feel that their appearance affects their quality of life. If this is the case, talk to one of our specialists about having the visible tumors removed from your child if they make you feel uncomfortable. Neurofibromatosis tumors rarely return following their removal by surgery.
Neurofibromatosis benign tumors seldom result in major medical issues, but in rare instances, we encounter major issues. People with a lot of neurofibromatoses may worry about their appearance and often seek surgery.
Special Remarks on this Condition
Having your child diagnosed with a benign tumor may be less frightening than being diagnosed with a cancerous tumor. However, even benign tumors, such as neurofibromatosis, can impact one’s life. Neurofibromatosis can have an impact on appearance and in some people, the condition can affect nearby organs and tissues.
Finally, if your child has been diagnosed with neurofibromatosis, talk to one of our doctors about having the tumors removed surgically. This condition is a rare, inherited condition that can cause serious medical problems. Our doctors specialize in children and are experts with Neurofibromatosis.
Why Choose Medical City Children’s Orthopedics and Spine Specialists
Selecting a pediatric orthopedic doctor for your child is a crucial decision that requires careful consideration. By seeking recommendations, researching credentials, assessing hospital affiliations, reviewing patient reviews, evaluating communication and bedside manner, considering the supportive team, discussing treatment options, seeking second opinions, prioritizing accessibility, and trusting your instincts, parents can make an informed choice.
Remember, finding the right orthopedic doctor will ensure that your child receives the best possible care. The doctors at Medical City Children’s Orthopedics and Spine Specialists are among the very best. Our experience and experience leads to optimal outcomes for children and a healthier, happier future. With offices in Arlington, Dallas, Flower Mound, Frisco, and McKinney, TX, doctors Shyam Kishan, Richard Hostin, and Kathryn Wiesman have spent years studying children’s health and have devoted their lives to treating them.
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Footnote:
National Institute of Neurological Disorders and Stroke: Neurofibromatosis
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