Neurocutaneous Syndrome

What is a neurocutaneous syndrome?

Neurocutaneous syndromes are a group of disorders that cause tumors to grow. These tumors can be cancerous or noncancerous. People are born with it (it’s congenital), but you might not develop symptoms until you’re older. Neurocutaneous syndromes are also known as phakomatoses.

How common are neurocutaneous syndromes?

Overall, neurocutaneous syndromes are rare. But some are more common than others. Approximately:

• 1 in 3,000 people has neurofibromatosis 1 (NF1), making it the most common neurocutaneous syndrome.
• 1 in 25,000 people has neurofibromatosis 2 (NF2).
• 1 in 6,000 people has tuberous sclerosis.

What are the symptoms of neurocutaneous syndromes?

The most common symptom of neurocutaneous syndromes are growths on your skin and in your nervous system. These syndromes can also affect your bones (skeletal system) and other organs, which may cause the following symptoms:

• Balance problems.
• Hearing loss.
• Vision issues.

Symptoms of neurocutaneous syndromes differ by condition, like:

• Incontinentia pigmenti (IP): Causes cycles of skin rashes that start like blisters and end up looking like scars. It’s also sometimes associated with neurological issues.
• Neurofibromatosis 1: Typically causes noncancerous soft tissue tumors, may cause skin color changes like brown birthmarks, or freckling in skin folds and eye tumors.
• Neurofibromatosis 2: Causes acoustic neuromas, vision problems, hearing loss and light-brown birthmarks.
• Schwannomatosis: Can cause symptoms like numbness, muscle weakness, hearing loss and pain.
• Sturge-Weber syndrome: Causes a port-wine stain, changes to blood vessels in your brain and glaucoma. May also lead to seizures and intellectual differences.
• Tuberous sclerosis: Typically leads to issues with your brain, eyes, skin, heart and lungs.
• Von Hippel-Lindau disease: Causes growths (hemangioblastomas and angiomas) in your adrenal glands, eyes, brain and kidneys.

Can neurocutaneous syndromes cause complications?

People with neurocutaneous syndromes are also at higher risk of developing certain types of cancers. Neurocutaneous syndromes also increase your risk of:

• Developmental delays.
• Epilepsy.
• Headaches.
• High blood pressure (hypertension).
• Learning disabilities.
• Tumors.

What causes a neurocutaneous syndrome?

Neurocutaneous syndromes develop because of changes (mutations) in certain genes. Sometimes, biological parents pass these gene changes to their children. But sometimes, the gene mutations occur without any family history or known cause.

How do healthcare providers diagnose neurocutaneous syndromes?

In children, healthcare providers begin with a well-child visit. Your provider will talk with you about any symptoms you notice and whether your child is meeting child development milestones.

Symptoms of neurocutaneous syndromes in adults may occur later in life. Your healthcare provider will talk with you about your symptoms and do a physical examination.

If your provider suspects a neurocutaneous syndrome, they’ll order more testing.

What tests do healthcare providers use to diagnose neurocutaneous syndromes?

Healthcare providers typically diagnose neurocutaneous syndromes through blood and imaging tests. Your provider may recommend:

• CT scan.
• Electroencephalogram.
• Laboratory tests (blood or urine tests).
• MRI.
• Skin biopsy or tumor biopsy.

How do healthcare providers treat neurocutaneous syndromes?

There aren’t any treatments for neurocutaneous syndromes. Instead, providers treat specific symptoms.

How should I care for my child with a neurocutaneous syndrome?

Children with neurocutaneous syndromes need lifelong care. Talk to your healthcare provider about how to care for your child’s symptoms. Make sure to:

• See all specialists your provider recommends.
• Have recommended cancer screenings.
• Report any new symptoms to your provider right away.

What healthcare providers should my child see if they have a neurocutaneous syndrome?

If your child has a neurocutaneous syndrome, they’ll need specialist care. Your healthcare provider can help arrange visits with specialists like:

• Audiologist.
• Dermatologist.
• Neurologist.
• Ophthalmologist.

How can I prevent neurocutaneous syndromes?

You can’t prevent neurocutaneous syndromes. But genetic tests and preconception counseling can help you understand whether you could pass certain genetic mutations to your child.

How do I know if I’m at risk for a neurocutaneous syndrome?

If someone in your family has a neurocutaneous syndrome, you (or your child) might be at higher risk for these conditions. Let your healthcare provider know if someone in your family has one of these syndromes. They may recommend genetic testing to check for gene mutations.

What can I expect if my child or I have a neurocutaneous syndrome?

You’ll have frequent medical appointments to check for tumor growth and any symptom changes. Talk to your healthcare provider about what to expect based on your specific neurocutaneous syndrome.

Are neurocutaneous syndromes curable?

No, neurocutaneous syndromes aren’t curable. But your healthcare provider will help you manage any symptoms that affect you or your child.