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.

Neurocutaneous syndromes from 1 in 3,000 (neurofibromatosis) children to 1 in close to 50,000 (tuberous sclerosis) children.

• Tuberous sclerosis
• Neurofibromatosis: type I, type II, and schwannomatosis
• Sturge-Weber syndrome

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.

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.

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.

• 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.

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.