Neurocutaneous Syndromes

Also known as: tuberous sclerosis (TS), neurofibromatosis (NF), Sturge-Weber disease

What are neurocutaneous syndromes?

Neurocutaneous syndromes is a broad term for a group of rare neurological lifelong disorders that cause tumors to grow inside the spinal cord, brain, skin, skeletal bones and other organs. The most common ones in children are:

• Tuberous sclerosis (TS)
• Neurofibromatosis (NF)/Schwannomatosis
• Sturge-Weber disease

What causes neurocutaneous syndromes?

Most neurocutaneous syndromes are present at birth and appear to be caused either by spontaneous gene changes or as a result of an abnormal gene being passed from parent to baby.

What are the symptoms of neurocutaneous syndromes? 

Symptoms vary depending on the exact diagnosis and organs involved. Common symptoms of neurocutaneous syndromes include:

• developmental delays
• seizures
• hearing loss
• headaches
• learning disabilities
• scoliosis (curved spine)
• facial and other pain
• skin symptoms (such as numbness, skin changes)
• tumors
• and other disabilities

What are neurocutaneous syndrome care options? 

As there is no cure for neurocutaneous syndrome, treatments will depend on the severity of the symptoms and may include a variety of medications or surgery as needed. Typically a pediatric neurologist will head a health care team which might include the child’s pediatrician, neurosurgeon, orthopedic surgeon, ophthalmologist, oncologist and rehabilitation team.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: May 22, 2023 11:45 AM