Neurocutaneous syndromes are lifelong conditions. They can impact the brain, spinal cord, nerves and skin. They can cause tumors to grow in the brain, spine, skin and sometimes other parts of the body.

One of the most common signs in kids is changes or marks on the skin.

There are several types of neurocutaneous syndromes. These conditions can run in families or happen due to new gene changes in the body.

RASopathy

RASopathies are genetic disorders that happen because of changes in genes in the RAS pathway. This pathway controls how the body grows and develops.

When the RAS pathway fails, it can harm the heart, skin, bones, muscles, vision and learning. Some also increase the chances of tumors or cancer.

Types of RASopathies:

• Cardiofaciocutaneous (CFC) syndrome: CFC impacts the heart, facial features, skin, hair and nails. It can cause delays in development, feeding issues and low muscle tone.
• Costello syndrome: This impacts how a child grows and develops. It also impacts the heart, facial features and skin, including growths on the face and anus. It can also cause feeding issues and raise the risk of certain cancers.
• Noonan syndrome (NS): NS can cause heart defects, a broad neck, low-set ears and wide-spaced eyes with droopy eyelids. It can also result in short height and learning delays.
• Noonan syndrome with loose anagen hair: This form of NS causes thin, slow-growing hair.
• Noonan syndrome with multiple lentigines: This was once called LEOPARD syndrome. It causes dark skin spots, heart problems, hearing loss and short height.

With CFC and Costello syndrome, a new gene usually causes it. With NS, parents can pass it down, or a new gene change can cause it. If a parent has NS, each child has a 50% chance of getting it.

Neurofibromatosis and Related Disorders

Neurofibromatosis (NF) and related disorders are genetic conditions. They impact the nerves and can cause skin changes, tumors and other health issues.

Types of neurofibromatosis and related disorders:

• Neurofibromatosis type 1 (NF1): NF1 normally causes many brown birthmarks called café-au-lait spots. These appear in early childhood. Kids may also grow noncancerous skin tumors, have learning issues or eye problems.
• NF2-related schwannomatosis: Once known as neurofibromatosis type 2 (NF2), this condition causes noncancerous tumors. They often grow in the nerves in charge of hearing and balance and can lead to hearing loss or deafness. They usually appear in late childhood or early adulthood.
• Legius syndrome: This condition resembles NF1. It causes brown birthmarks, freckling, mild learning problems and a larger head. Unlike NF1, it normally does not cause tumors.
• LZTR1- and SMARCB1-related schwannomatosis: Changes in the LZTR1 or SMARCB1 genes cause this form of schwannomatosis. It involves noncancerous nerve tumors called schwannomas. They can lead to pain or nerve problems. Unlike NF2, it normally does not affect the nerves in charge of hearing and balance.

NF is present at birth and affects about 1 in 3,000 people. If a parent has NF, each child has a 50% chance of getting it.

Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is a condition that can impacts the brain, kidneys, heart and skin. Symptoms can vary and may include seizures, tumors, skin changes or learning and behavior problems.

TSC is present at birth, although you may not notice signs right away. It happens in about 1 in 30,000 to 50,000 births. If a parent has TSC, each child has a 50% chance of getting it.

If your child has a neurocutaneous syndrome, their doctor may refer you to the Neurofibromatosis and RASopathy Program at Children’s Wisconsin. This program brings together different experts who work as a team. We diagnose, educate, counsel and treat kids and young adults with NF and other disorders related to the RAS pathway.

These conditions can run in families, but they don’t look the same in each child. That can make them hard for doctors to find. But at Children’s Wisconsin, we have the skills, knowledge and tools to help.

• NF clinic network: Our Neurofibromatosis and RASopathy Program is part of the Children’s Tumor Foundation NF Clinic Network. We follow strict care plans and have a lot of knowledge about NF and schwannomatosis. We help kids and their families learn about their condition and take part in research to find better treatments.
• Wisconsin’s only: Our Genetics and Genomics Program offers services you can't find anywhere else in the state. Our program helps detect and treat many different types of genetic conditions.
• Award-winning: The National Organization of Rare Diseases named us a Rare Disease Center of Excellence. This credits our program for high care standards in research, diagnosis and treatment of rare conditions in kids.
• Academic medicine: Our Genetics and Genomics Program experts work with the Medical College of Wisconsin (MCW). MCW is a top medical school and research center. This partnership lets us advance knowledge, drive research and create new treatments.
• National leader: We’re the biggest genetics program in Wisconsin. We’re also national leaders in whole-genome sequencing. Our doctors use this to find genetic changes that cause diseases, including rare conditions that are hard to diagnose.

To schedule a visit, please call (877) 607-5280. If you have questions about our Neurofibromatosis and RASopathy Program, please call (414) 266-3347.

If you’re from out of town, please call (414) 266-6300. Our Access Center will help you book visits to Children's Wisconsin. They can also help with lodging and provide other forms of support.

Before

Before your visit, we may ask you to bring:

• A list of any medicine your child takes
• Your health insurance card
• A list of questions or concerns you have
• Detailed family history
• Genetic testing results for your child or family members
• Health records, such as MRIs, X-rays or prior genetic testing

The first visit usually takes one to two hours.

During

Our team will connect your child to the team members needed to provide complete care. During your child’s visit, we will test them to provide tailored care. They will see a genetic counselor and a doctor or other expert.

At that visit, we will:

• Review health and family history
• Do a physical exam
• Share the results with you
• Answer your questions

After

Your child will see a genetic counselor and a doctor or other expert during follow-up visits. At each visit, we will update health and family history information and perform a full exam. Your child may also see a skin doctor to test and address concerns with their skin.

After the follow-up visit, we will send the clinic notes to your child’s doctor. These notes will include our results and next steps.