Neurocutaneous Syndromes

What Are Neurocutaneous Syndromes?

Neurocutaneous syndromes are disorders that lead to growth of tumors in various parts of the body. They're caused by the abnormal development of cells in an embryo and characterized by the tumors in various parts of the body (including the nervous system) and by certain differences in the skin.

While some can be diagnosed at birth, others don't produce symptoms until later in life. Although neurocutaneous syndromes can't be cured, treatments can help manage symptoms and any health problems that occur.

Recently, important advances have been made in using DNA testing to confirm these syndromes in some people.

What Are Some Types of Neurocutaneous Syndromes?

Common neurocutaneous syndromes that affect kids include:

• Neurofibromatosis, Types 1 and 2 (NF1 and NF2)
• Sturge-Weber Syndrome
• Tuberous Sclerosis (TS)
• Ataxia-Telangiectasia (A-T)
• von Hippel-Lindau Disease (VHL)

Symptoms vary widely from condition to condition, and they affect different kids in different ways. Often, the full effects of these diseases — even if detected at birth — don't emerge until a child grows up. The educational, social, and physical problems that the conditions cause must be managed throughout a child's life.

How Can Parents Help?

Early intervention is important to help your child achieve the best quality of life possible.

It's important that your child is cared for by a team of medical experts. Treatment should prevent or minimize complications and maximize a child's strengths. Keep these tips in mind:

• Positive reinforcement can strengthen your child's self-esteem and foster a sense of independence. Let your child find out what he or she is capable of, especially regarding daily living skills.
• Support groups can be help helpful, so seek out local chapters that address your child's particular illness. They provide a supportive social environment, and are a great way to share knowledge and resources.
• Psychotherapy or other supportive treatments can boost your child's self-esteem and coping skills, so ask the treatment team for referrals. Therapy also can help other family members deal with the stress involved in caring for a child with a chronic illness or disability.
• Physical, occupational, or speech therapy can help your child improve some of the developmental delays caused by the specific illness.
• Check with your local hospital or university for seminars about neurocutaneous syndromes.

Many medical professionals might care for your child during diagnosis and treatment. These professionals can include a family practitioner, pediatrician, neurologist, neurosurgeon, orthopedic surgeon, oncologist, geneticist, and ophthalmologist. A genetic counselor also can provide information about genetic testing and the risk of passing the disease on to another child.

Remember that although each of these conditions is challenging, supportive therapies and treatments can help both you and your child.