Neurocutaneous Disorders Program

Children’s Hospital Los Angeles is home to pediatric experts specializing in neurocutaneous disorders. These conditions include the neurofibromatoses, tuberous sclerosis complex, Sturge-Weber syndrome and other complex genetic syndromes that require specialized therapies.  

The best pediatric neurocutaneous disorder care comes from an experienced multidisciplinary team, and you’ll find it at Children’s Hospital. Our highly skilled pediatric specialists deliver comprehensive care reflecting the latest science in neurocutaneous disorder treatment. We also play an active role in developing new therapies that offer additional hope for healing.  

Neurofibromatosis and Other Neurocutaneous Syndromes: Why Choose Us

Caring for children with neurocutaneous disorders requires an experienced multidisciplinary team to coordinate medical care over a child’s lifetime. Children’s Hospital providers have extensive experience caring for children with these medical conditions. Involved specialists work closely together to make sure our patients receive excellent care in a collaborative environment with access to the most current treatments.

Neurocutaneous Conditions We Care For

The most common neurocutaneous disorders our program manages include:

• Neurofibromatosis (NF): The neurofibromatoses are a group of genetic disorders that can cause birthmarks on the skin and benign tumors in the brain and spine. Tumors can also form on the peripheral nerves. Other organ systems can be involved like the eyes and bones. There are three forms of NF:
  • Neurofibromatosis type 1 (NF1): NF1 is the most common neurocutaneous syndrome. Dark brown birthmarks on the skin and freckling under the arms or in the groin are the most common skin findings in NF1. People with NF1 can also develop benign tumors on the peripheral nerves or nerves in the brain or spinal cord.
  • Neurofibromatosis type 2 (NF2): This disorder can cause tumors to grow in the nerves leading to the ears, resulting in hearing and balance problems. People with this disorder also have an increased risk of developing tumors elsewhere in the nervous system.
  • Schwannomatosis: This rare condition causes non-cancerous tumors to grown along the nerves of the central nervous system (brain and spine), as well as along the peripheral nerves. These growths can cause pain, numbness, weakness and sensory changes.
• Tuberous Sclerosis Complex (TSC): This genetic disorder most commonly affects the skin, brain, eyes, heart, kidneys and lungs. Affected patients may have seizures and developmental disabilities like intellectual disability, learning problems and autism.
• Sturge-Weber Syndrome: Sturge-Weber syndrome is rare and is not inherited through families. The three features of this disorder include:
  • A port-wine stain birthmark, usually on one side of the face
  • Changes in the brain that predispose to seizures and other neurologic problems
  • Glaucoma (increased pressure) in the eyes

Our Team Approach to Neurofibromatosis and Neurocutaneous Syndromes

Because neurocutaneous disorders can affect many organs of the body, children with these medical problems are often followed by multiple subspecialists at Children’s Hospital. Since every patient’s disorder looks different, our providers take an individualized approach and provide personalized care plans. Our program offers:

• Evaluation for new diagnoses in children who may have a neurocutaneous disorder
• Ongoing follow up and support for children who have been diagnosed with a neurocutaneous disorder, from infancy through adolescence and young adulthood
• Care coordination among treating subspecialists

The care team for children with neurocutaneous disorders may include providers with expertise in:

• Audiology
• Cardiology 
• Dermatology
• Endocrinology
• General Surgery
• Medical Genetics
• Nephrology
• Neurology
• Neuro-Oncology 
• Neurosurgery
• Oncology
• Ophthalmology
• Orthopedic Surgery
• Otolaryngology-Head and Neck Surgery 
• Plastic Surgery

Additional therapies and services are available from experts in:

• Behavioral Health
• Pain Management 
• Radiation Oncology 
• Radiology 
• Rehabilitation Services
• Social Work

Research and Clinical Trials

Children’s Hospital is a member of the U.S. Department of Defense’s Neurofibromatosis Clinical Trials Consortium (NFCTC). The consortium runs multi-center clinical trials that provide treatment options for a variety of medical complications associated with NF1 and NF2.

Participating in the consortium gives our patients access to the most current NF research and clinical trials. Children’s Hospital is the only NFCTC site on the West Coast.

Program Awards and Affiliations

Our Comprehensive Neurofibromatosis Program is recognized as a member of the Children's Tumor Foundation NF Clinic Network.

The Children’s Hospital Tuberous Sclerosis Program is recognized by the Tuberous Sclerosis Alliance within their clinic network.