Neurocutaneous Syndromes

What are neurocutaneous syndromes?

Neurocutaneous syndrome is a broad term for a group of neurologic (brain, spine, and peripheral nerve) disorders. These diseases are life-long conditions that can cause tumors to grow inside the brain, spinal cord, organs, skin, and skeletal bones.

The three most common types of neurocutaneous syndromes include the following:

• tuberous sclerosis (TS)
• neurofibromatosis (NF): Type I, Type II, and schwannomatosis
• Sturge-Weber disease

What causes neurocutaneous syndromes?

Tuberous sclerosis, NF, and Sturge-Weber disease are all conditions that are congenital (present at birth).

Although the true prevalence of tuberous sclerosis is not known, it is estimated that this disease occurs in 25,000 to 40,000 persons in the US. It is an autosomal dominant condition. Autosomal means that both males and females are equally affected and dominant means that only one copy of the gene is necessary to have the disorder. A parent with TS has a 50/50 chance of having a child with TS. Many children born with TS are the first cases in a family, since the majority of TS is caused by a new gene change (mutation), and is not inherited. However, parents of a child with TS may have very subtle symptoms of the disorder, and should be carefully examined. Even if no symptoms are present, the parents are considered at a slightly increased risk to have another child with TS, greater than that of the general population.

Neurofibromatosis Type 1 (NF1) occurs in about one in 3,000 to 4,000 births in the US. NF1 is an autosomal dominant condition caused by a gene on chromosome 17, which is inherited from a parent with the disease (in half of the cases). Neurofibromatosis Type 2 (NF2) occurs less frequently, affecting about one in 25,000 births in the US. The gene which causes NF2 is found on chromosome 22.

A parent with NF has a 50/50 chance of having a child with the disease.

NF may also be the result of a new gene change (mutation). Thirty percent to fifty percent of NF cases are caused by a new mutation and are not inherited. Males and females are equally affected, regardless of how the disease occurs. Schwannomatosis is a recently-recognized form of NF that is genetically distinct from NF1 and NF2. It occurs rarely, and only 15 percent of cases are the inherited form.

The cause of Sturge-Weber disease is unknown and is considered to be sporadic (occurs by chance). Sometimes, other family members will have hemangiomas (a benign growth that consists of blood vessels) to a lesser degree than the person with Sturge-Weber disease.

Treatment of neurocutaneous syndromes:

Specific treatment for neurocutaneous syndromes will be determined by your physician based on:

• your age, overall health, and medical history
• extent of the condition
• type of condition
• your tolerance for specific medications, procedures, or therapies
• expectations for the course of the condition
• your opinion or preference