KidsMD Health Topics

Neurocutaneous Syndromes

  • It can be hard to find accurate information about some neurocutaneous syndromes simply because they’re relatively rare.They affect from 1 in 3,000 (neurofibromatosis) children to 1 in close to 50,000 (tuberous sclerosis) children.

    Here’s what you need to know about neurocutaneous syndromes:

    • Neurocutaneous syndrome is a broad term for a group of neurologic (brain, spine, and peripheral nerve) disorders.
    • These syndromes are progressive conditions, which means that they will grow as your child grows. While there is no cure, there are many effective ways to manage your child’s symptoms.

    • These diseases are lifelong conditions that can cause tumors to grow inside your child’s brain, spinal cord, organs, skin and bones. 

    The three most common types of neurocutaneous syndromes are:

    For detailed information about your child’s specific neurocutaneous syndrome, click on one of the links above.

    For more information about neurocutaneous syndromes in general, read on.
     

    Boston Children’s Hospital’s approach

    You may have heard that neurocutaneous syndromes can be challenging to treat. Sometimes that’s true. But the dedicated, compassionate staff at Children’s is incredibly well qualified to care for your child. We view the diagnosis as a starting point: Now we’re able to begin the process of treating your child — with all the means at our disposal — so that we may effectively manage the condition and allow your child to have a healthy life.

    We’re known for our science-driven approach—we’re home to the most extensive research enterprise located in a pediatric hospital in the world, and we partner with a number of top biotech and health care organizations—but our physicians never forget that your child is a child, and not just a patient.

    We specialize in innovative, family-centered care. From your first visit, you’ll work with a team of professionals who are committed to supporting all of your family’s physical and psychosocial needs.

    Neurocutaneous syndromes: Reviewed by Mira Irons, MD
    © Children’s Hospital Boston, 2010

    Neurofibromatosis Program

    Depending on the type of neurocutaneous syndrome your child is diagnosed with, you may be seen in one of the three neurocutaneous programs within our Brain Center. With a diagnosis of Neurofibromatosis, your child will be seen in our multidisciplinary Neurofibromatosis Program.

    Boston Children's Hospital
    300 Longwood Avenue
    Boston MA 02115


     857-218-4018

  • It can be hard to find accurate information about some neurocutaneous syndromes simply because they’re relatively rare. Here at Boston Children’s Hospital, we understand these syndromes — and we know how to treat them.

    Causes

    How common are these syndromes?

    They’re rare — their rate of occurrence ranges from 1 in 3,000 (neurofibromatosis) to 1 in close to 50,000 (tuberous sclerosis).
     

    What causes neurocutaneous syndromes?

    Tuberous sclerosis, neurofibromatosis and Sturge-Weber disease are all conditions that are congenital, which means that they’re present when your child is born.

    • Both tuberous sclerosis and neurofibromatosis are caused by genetic mutations.
    • Doctors don’t yet fully understand the cause of Sturge-Weber disease.


    Symptoms

    What are the symptoms of neurocutaneous syndromes?

    Symptoms of neurocutaneous syndromes vary with the condition. For detailed information about symptoms your child may have, please click one of the links below:

    Coping and support

    It may help you to remember that you and your family aren’t alone. Many families have been down this path, and there's a lot of support available here at Boston Children's for you and your family. Here are some of the ways we can help:

    Patient education: From the first office visit, our nurses will be on hand to help answer any questions you may have — What kind of tests will my child need? What are the next steps in treatment? They will also reach out to you by phone, continuing the care and support you received while at Children’s.

    Parent to parent: Want to talk with someone whose child has been treated for the same condition? We can often put you in touch with other families who can share with you their experience at Boston Children’s.

    Faith-based support: If your child is in the hospital and you are in need of spiritual support, we will help connect you with the Boston Children’s chaplaincy. Our program includes nearly a dozen clergy representing Episcopal, Jewish, Lutheran, Muslim, Roman Catholic, Unitarian and United Church of Christ traditions who will listen to you, pray with you and help you observe your own faith practices during your hospital experience.

    Social work: A social worker can offer counseling and assistance with issues such as coping with your child’s diagnosis, stresses relating to contending with illness and dealing with financial difficulties.

    Click here for all you need to know about:

    • getting to Boston Children’s
    • accommodations
    • navigating the hospital experience
    • resources that are available for your family
       

    Long-term outlook

    What is the long-term outlook for my child?

    Because there’s no cure for these syndromes, we focus on managing your child’s symptoms. The long-term outlook for your child depends on a few factors:

    • the extent of the disease
    • the overall health of your child
    • your child's tolerance of specific medications, procedures, or therapies
    • new developments in treatment
       

    Every child is unique and your care team will work with you to develop a treatment plan that works for your family.
     

    Will my child get better?

    These syndromes are progressive conditions, which means that they will grow as your child grows. That said, we have many effective ways to manage your child’s symptoms.

    For more information, see the Treatment & Care section.
     

    What do we do after treatment is over?
    Your doctor may recommend a series of follow-up visits to check for complications and make sure that we’re managing your child’s condition effectively.

     A typical follow-up visit may include some or all of the following:

    • a physical exam
    • laboratory testing
    • imaging scans

    Kid-centered care

    Treatment for neurocutaneous syndromes — which sometimes includes surgery —can be intimidating for young children, so we’ve built our treatments around concepts that work for kids.

    Our entire staff is highly trained and experienced. And more importantly, we’re all dedicated to working with families — to make sure that your child is as comfortable as possible during treatment.
     

    FAQs

    After your child is diagnosed with a Neurocutaneous syndrome, you may feel overwhelmed with information. It can be easy to lose track of the questions that occur to you.

    Lots of parents find it helpful to write down questions as they arise – that way, when you talk to your child’s doctors, you can be sure that all of your concerns are addressed. Here are some to get you started:
     

    Q: What is a neurocutaneous syndrome?

    A: Neurocutaneous syndrome is a broad term for a group of neurologic (brain, spine, and peripheral nerve) disorders that can cause tumors to grow inside your child’s brain, spinal cord, organs, skin and bones. 
     

    Q: Is there a specific syndrome that my child has?

    A: Yes. The three most common types of neurocutaneous syndromes are:

    Q: How common are these syndromes?

    A: They’re rare — their rate of occurrence ranges from 1 in 3,000 (neurofibromatosis) to 1 in close to 50,000 (tuberous sclerosis).
     

    Q: What causes neurocutaneous syndromes?

    A: Tuberous sclerosis, neurofibromatosis, and Sturge-Weber disease are all conditions that are congenital, which means that they’re present when your child is born.

    • Both tuberous sclerosis and neurofibromatosis are caused by genetic mutations.
    • Doctors don’t yet fully understand the cause of Sturge-Weber disease.
       

    Q: What are the symptoms of neurocutaneous syndromes?

    A: Symptoms of neurocutaneous syndromes vary with the condition. For detailed information about symptoms your child may have, please click one of the links below:

    Q: What is the long-term outlook for my child?

    A: Because there’s no cure for these syndromes, we focus on managing your child’s symptoms. The long-term outlook for your child depends on a few factors:

    • the extent of the disease
    • the overall health of your child
    • your child's tolerance of specific medications, procedures, or therapies
    • new developments in treatment
       

    Every child is unique and your care team will work with you to develop a treatment plan that works for your family.
     

    Q: Will my child get better?

    A: These syndromes are progressive conditions, which means that they will grow as your child grows. That said, we have many effective ways to manage your child’s symptoms. For more information, see the Treatment & Care section.
     

    Q: How do I know if my child has a neurocutaneous syndrome?

    A: Tuberous sclerosis, neurofibromatosis and Sturge-Weber disease are congenital conditions, which means they are present when your child is born.

    Depending on your child’s symptoms, however, and the type of syndrome, it may be some time before a diagnosis is made.
     

    Q: How will my child’s syndrome be treated?

    A: These syndromes are complicated conditions, and they affect different kids in different ways.

    • The first step is to have your child evaluated by members of an experienced interdisciplinary medical team.
    • No single specialist can manage these syndromes and their associated problems, as different interventional techniques and surgical procedures are often needed.
       

    Because there is no cure for these syndromes — and they’re progressive conditions — we believe that treating your child’s symptoms is the most effective way to manage the disease.
     

    Q: What makes Children’s different?

    A: Treatment for neurocutaneous syndromes — which sometimes includes surgery —can be intimidating for young children, so we’ve built our treatments around concepts that work for kids.

    • Our entire staff is highly trained and experienced. And more importantly, we’re all dedicated to working with families — to make sure that your child is as comfortable as possible during treatment.
  • How do I know if my child has a neurocutaneous syndrome?

    Tuberous sclerosis, neurofibromatosis, and Sturge-Weber disease are congenital conditions, which means they are present when your child is born.

    Depending on your child’s symptoms, however, and the type of syndrome, it may be some time before a diagnosis is made.
     

    How will my child be diagnosed?

    When you make an appointment at Children’s Hospital Boston, we start by requesting all outside imaging, labs, notes and photographs to begin preparation for your visit. 

    • Your visit includes a complete medical history and thorough physical exam.
    • During this exam, your doctor obtains a complete prenatal and birth history of your child and asks if other family members are known to have any of these conditions.
    • In older babies and children, your doctor will also ask about developmental milestones, since these disorders can be associated with other neurological problems and may require further medical follow-up.
       

    For information specific to your child’s syndrome, click one of the links below:

  • Undoubtedly, you were distressed when you learned that your child has a neurocutaneous syndrome. That's understandable — there is no known cure for these conditions and they can sometimes be complicated to treat.

    However, you're in the right place. Our experienced team of physicians understands how to treat these complex syndromes and help your child live a healthy, happy life.
     

    How will my child's syndrome be treated?

    These syndromes are complicated conditions, and they affect different kids in different ways.

    • The first step is to have your child evaluated by members of an experienced interdisciplinary medical team.
    • No single specialist can manage these syndromes and their associated problems, as different interventional techniques and surgical procedures are often needed.
       

    Because there is no cure for these syndromes — and they're progressive conditions — we believe that treating your child's symptoms is the most effective way to manage the disease.
     

    So how will my child's symptoms be managed?

    We recommend that your child be treated by an interdisciplinary team that may include the following healthcare providers:

    • pediatrician/family practitioner
    • neurologist — a physician who specializes in conditions of the brain and nerves
    • neurosurgeon — a surgeon who specializes in operating on the brain and spinal cord
    • orthopaedic surgeon — a surgeon who specializes in conditions of the muscles, tendons, ligaments and bone
    • ophthalmologist — a physician who specializes in conditions of the eye
    • nurse
    • rehabilitation team (physical, occupational, speech therapy, audiology)
       

    For treatment information specific to your child's syndrome, click one of the links below:

    Tuberous sclerosis
    Neurofibromatosis
    Sturge-Weber syndrome

  • The Boston Children's Hospital Neurofibromatosis Program has recently been chosen by the Department of Defense to form a clinical trials consortium with eight other neurofibromatosis centers in the United States.

    This group of centers will join together to develop and implement clinical trials in NF1 for treatment of complications of this condition, including neurofibomas, optic gliomas, and learning disabilities.

Request an Appointment

If this is a medical emergency, please dial 9-1-1. This form should not be used in an emergency.

Patient Information
Date of Birth:
Contact Information
Appointment Details
Send RequestIf you do not see the specialty you are looking for, please call us at: 617-355-6000.International visitors should call International Health Services at +1-617-355-5209.
Please complete all required fields

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

Thank you.

Your request has been successfully submitted

You will be contacted within 1 business day.

If you have questions or would like more information, please call:

617-355-6000 +1-617-355-6000
close
Find a Doctor
Search by Clinician's Last Name or Specialty:
Select by Location:
Search by First Letter of Clinician's Last Name: *ABCDEFGHIJKLMNOPQRSTUVWXYZ
More optionsSearch
Condition & Treatments
Search for a Condition or Treatment:
Show Items Starting With: *ABCDEFGHIJKLMNOPQRSTUVWXYZ
View allSearch
Locations
The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
- Sandra L. Fenwick, President and CEO
Close