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:

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.