Plexiform neurofibromas (PN) are a common type of tumor in children with neurofibromatosis type 1 (NF1) that can cause a variety of symptoms and complications. Learning more about treatment options may help you manage these complications.
NF1 is a genetic condition that often begins in early childhood. It causes changes in skin pigmentation and increases the risk of noncancerous and cancerous tumors.
According to the National Organization for Rare Diseases , up to 50% of people with NF1 develop at least one PN. These are benign tumors that develop on the sheaths that cover and protect nerves.
Although NF1-PN are not cancerous, they tend to get larger over time and may press on nerves and other tissues or organs. This can lead to symptoms and complications that may negatively affect your child’s health and quality of life. Potential symptoms and complications range from mild to severe.
Sometimes, benign NF1-PN can change into an aggressive form of cancer known as malignant peripheral nerve sheath tumor (MPNST).
Your child’s treatment plan will depend on the location and size of any tumors they have, as well as the specific symptoms or complications they develop.
Read on to learn how you can help manage complications of NF1-PN in your child.
What are the potential complications of NF1-PN in children?
NF1-PN can cause a wide variety of symptoms and complications, depending on where a tumor develops and how large it grows. Some children develop more severe complications than others.
“These tumors can form any place on the body, all the way from the skin to deep inside the body by major organs, or anything in between,” said Justin Jordan , MD, MPH, FAAN, director of the Family Center for Neurofibromatosis at Massachusetts General Hospital and associate professor of neurology at Harvard Medical School in Boston, Massachusetts.
The growth of a PN may cause pain, changes to your child’s appearance, and other potential symptoms.
If the tumor presses on nerves or organs, it may cause “motor impairment, sensory impairment, or organ impairment,” said Jordan. There’s also a risk that a benign tumor may change into cancer.
Pain and other sensations
Pain is one of the most common symptoms of NF1-PN due to the pressure that tumors can put on nerves and other tissues and organs.
Your child may also feel other uncomfortable sensations, such as:
- itching
- irritation
- numbness
Changes to appearance
NF1-PN may cause a visible lump to form under your child’s skin. This lump may get larger over time and noticeably affect their appearance.
Changes to your child’s appearance may be a source of distress, especially if the tumor is located on their face or another highly visible area.
Bone changes
NF1-PN may press on bones, affect their growth, or damage them. This can cause pain and other challenges.
“When we see these tumors on the face, they can affect the bones of the jaw and cause difficulty chewing and swallowing,” said Jordan. “Those that grow near the spine can cause spinal curvature, known as scoliosis.”
Motor or sensory impairment
NF1-PN may put pressure on nerves that help control body movements or process sensory information.
This may lead to:
- motor impairments, such as:
- muscle weakness
- increased fatigue
- reduced balance, coordination, or speed
- sensory impairments, such as:
- numbness
- reduced vision
- reduced hearing
Organ impairment
NF1-PN may put pressure on organs, which can damage them or limit their ability to work as expected.
For example, a tumor may press on your child’s:
- bladder, which may cause:
- discomfort during urination
- difficulty urinating or controlling urination
- an increased risk of urinary tract infections
- bowels, which may cause symptoms such as:
- abdominal pain
- constipation
- diarrhea
- windpipe or lungs, which may cause breathing difficulties
Development of cancer
Benign NF1-PN are not cancerous, but sometimes they change into a type of cancer known as MPNST. This is an aggressive cancer that can quickly spread to other tissues and organs.
An estimated 8% to 13% of people with NF1 develop MPNST at some point in their lifetime.
MPNST is more common in young adults and middle-aged adults but may also affect children.
Mental health effects
The effects of NF1-PN on your child’s health, comfort, appearance, abilities, or daily routine may take a toll on their sense of self or mental well-being.
Children with NF1-PN may also experience bullying or negative judgments from others.
These challenges may contribute to:
- isolation
- low self-esteem
- symptoms of anxiety or depression
- other social or mental health challenges
The challenges of managing NF1-PN may also affect your mental health or well-being as a caregiver.
How can I help my child manage complications?
If your child has NF1-PN, it’s important to attend regular checkups with their doctor.
Let the doctor know about any changes in your child’s physical or mental health. They can help determine whether the changes are caused by a potential complication of NF1-PN or another health condition.
The doctor can also help you learn about your child’s treatment options and other strategies or resources that may help you manage complications.
Surgery
NF1-PN often can’t be fully removed with surgery, but a surgeon may be able to debulk a tumor to make it smaller. This may help reduce the tumor’s appearance or ease other symptoms.
“Generally, you are able to remove some of the bulk of the tumor and hopefully reduce symptoms, but for most people, the tumors do grow back at some point,” said Jordan.
Medication
The Food and Drug Administration has approved the oral medication selumetinib (Koselugo) for children over the age of 2 years old who have NF1-PN that causes symptoms and can’t be treated with surgery. Selumetinib is a type of targeted therapy called a MEK inhibitor.
According to a 2023 research review , clinical trials have found that selumetinib may help:
- reduce the size of NF1-PN
- reduce pain caused by NF1-PN
- improve strength, range of motion, and quality of life in children with NF1-PN
Some children who take selumetinib have more improvements in symptoms than others. It does not shrink tumors in every child who takes it.
Researchers are also developing other medications that may help shrink or slow the growth of NF1-PN. Some of these experimental treatments may be approved in the future.
Your child’s doctor may also recommend or prescribe other medications to help manage certain symptoms, such as pain relievers for pain or laxatives to manage constipation.
Ask your doctor about the potential benefits and risks of any medication they prescribe for your child.
Rehabilitative therapy
Rehabilitative therapy may help you and your child manage changes in their physical health or abilities.
There are many different types of rehabilitative therapy. For example, your doctor may refer your child to:
- an occupational therapist, who can recommend adaptive tools or changes to your child’s daily routine or environment to make certain activities easier
- a physical therapist, who can recommend exercises to improve your child’s strength or other abilities
- a speech therapist, who can help manage speech or swallowing challenges
Consider asking your child’s doctor whether there are rehabilitative therapies that might help them.
Assistive devices or tools
Certain assistive devices or tools may help treat or manage certain complications.
For example, your child’s doctor or rehabilitative therapist may recommend:
- a cane, crutch, or other mobility device if your child has difficulty walking
- a brace, splint, or other supportive device if your child has atypical bone development
- an eye patch, hearing aid device, or other tools to help manage sensory changes
- special tools or appliances to complete routine activities at home or school
Talk with your child’s doctor or rehabilitative therapist about the specific challenges your child is experiencing. Consider asking whether there are assistive devices or tools that might help.
Psychological counseling
Although more research is needed, it’s possible that acceptance and commitment therapy (ACT), cognitive behavioral therapy (CBT), or other forms of psychological counseling may help your child cope with:
- changes in their abilities or routine
- chronic pain or other physical symptoms
- mental health challenges, such as anxiety or depression
A doctor may also prescribe medication to treat mental health symptoms.
“Many patients do end up seeing counselors or therapists, and many end up taking medication for mental health, which I think is so important to normalize,” said Jordan. “In this population especially, I think it’s important to ask about mental health often and help early.”
Educational support
NF1-PN symptoms or complications may affect your child’s comfort at school or their ability to complete certain tasks or participate in certain activities. Many children with NF1 also have learning disabilities.
Consider meeting with your child’s teacher and school administrator to discuss their condition and how it may affect them at school. You can work together to develop a plan that meets your child’s support needs.
Social support
Connecting with other individuals and families affected by NF1-PN may help you and your child manage the challenges of this condition.
You might find it helpful to talk about your experiences with others and share practical tips and resources for managing symptoms and complications.
Consider visiting the Children’s Tumor Foundation or Neurofibromatosis Network to find support resources and opportunities to connect with others.
“These advocacy organizations are very focused on improving people’s lives and provide a landing space for patients to meet other patients,” said Jordan. “You can imagine how much of a difference that can make for someone who’s going through life feeling alone or stigmatized.”
When to see a doctor
Contact your child’s doctor if they have a PN that:
- is causing different or more severe symptoms than usual
- seems to be growing more quickly than usual
- has changed in texture
These might be signs that the tumor has developed into MPNST, which is an aggressive type of cancer.
Also, tell your child’s doctor about other changes in their physical or mental health, which may be a sign of a complication of NF1-PN or another health condition that requires treatment.
Talk with your child’s doctor if you’re interested in trying a new treatment for your child’s condition or if you have concerns about their current treatment. They can help you learn about the potential benefits and risks of different treatment approaches.
Takeaway
NF1-PN can cause various complications, depending on where the tumor forms and how large it grows.
Your child’s doctor may recommend surgery, medication, or other treatments to manage complications.
They may also refer your child to another health specialist for support or recommend certain assistive devices or other tools and resources to help manage complications.
Connecting with patient advocacy organizations and other families affected by NF1-PN may also help you and your child find support for managing this condition.
Most Popular
Comments / 0