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:
- tuberous sclerosis
- neurofibromatosis: Type I, Type II, and schwannomatosis
- Sturge-Weber syndrome
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 above for tuberous sclerosis, neurofibromatosis, or Sturge-Weber disease.
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.
How we care for Neurocutaneous syndromes
You may have heard that neurocutaneous syndromes can be challenging to treat. Sometimes that’s true. But the dedicated, compassionate staff at Boston 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 | Diagnosis & Treatments
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 and the type of syndrome, it may be some time before a diagnosis is made.
How we diagnose neurocutaneous syndromes
When you make an appointment, 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.
How do we treat neurocutaneous syndromes?
- 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.
How do I manage my child's condition?
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
- orthopedic surgeon — a surgeon who specializes in conditions of the muscles, tendons, ligaments, and bone
- ophthalmologist — a physician who specializes in conditions of the eye
- rehabilitation team (physical, occupational, speech therapy, audiology)
What is the long-term outlook for my child?
That 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.
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
Coping and support
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 receive.
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 Department of Spiritual Care (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
- navigating the hospital experience
- resources that are available for your family
Neurocutaneous Syndromes | Research & Clinical Trials
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.