Neurocutaneous Syndromes

About Neurocutaneous Syndromes

Neurocutaneous syndromes are disorders that lead to abnormal 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 presence of 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 cannot be cured, treatments can help manage symptoms and any health problems that occur.

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 — do not emerge until the child grows up. The educational, social, and physical problems that the conditions cause must be managed throughout a child's life.

Neurofibromatosis

Neurofibromatosis is one of the most common neurocutaneous syndromes. It can cause tumors to grow on nerve cells, producing skin changes, bone deformities, eye problems, and other complications, particularly in the brain.

Neurofibromatosis is usually inherited, but up to half of cases occur because of spontaneous changes (mutations) within a person's genes. Once a mutation has taken place, the changed (mutant) gene can then be passed on to succeeding generations. The child of a parent with neurofibromatosis has a 50% chance of inheriting the disorder.

The two different forms of this disorder are neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 accounts for approximately 90% of all cases.

Neurofibromatosis Type 1

NF1 (also known as von Recklinghausen disease) occurs in about 1 in 4,000 babies born in the United States. To diagnose NF1, doctors take a thorough medical and family history because children with NF1 often have a parent with the disease.

The classic sign of NF1 are skin pigment findings known as "café-au-lait" spots. These light brown or coffee-colored patches may be present at birth and can look like freckles at first. They often increase in size and number during the first few years of life. A child diagnosed with NF1 will usually have at least six café-au-lait spots that are larger than freckles. The spots are flat, don't itch or hurt, and do not turn into anything more serious.

Another common sign is the presence of Lisch nodules, tiny, benign (noncancerous) tumors found on the iris of the eye. In some cases, tumors can develop along the optic nerves and affect vision. During puberty, benign tumors called neurofibromas develop on or under the skin or along the nerves of the body. Bone deformities also may develop.

NF1 treatment focuses on managing the symptoms. A child with complications involving the eye, nervous system, spine, or bones will be referred to an appropriate specialist for treatment. In cases where these neurofibromas are causing chronic pain, growing into vital body organs, or causing infections, the growths can be removed through surgery.