Neurocutaneous Syndromes

Neurocutaneous Syndromes

What are neurocutaneous syndromes?

Illustration of the nervous system
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Neurocutaneous syndrome is a broad term for a group of neurologic (brain, spine, and peripheral nerve) disorders. These diseases are lifelong 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:

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, the National Institute of Neurological Disorders and Stroke (NINDS) estimates that this disease occurs in one in 6,000 people in the U.S. 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. 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.

According to NINDS, fibromatosis Type 1 (NF1) occurs in about one in 3,000 to 4,000 births in the U.S. 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 U.S. 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). Half 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, typically first appearing in people older than age 30, and only 15 percent of cases are the inherited form. It affects roughly one in 40.000 live births.

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.

What are the symptoms of neurocutaneous syndromes?

The following are the most common symptoms of tuberous sclerosis, neurofibromatosis, and Sturge-Weber disease. However, each individual may experience symptoms differently. Symptoms may include:

The symptoms of neurocutaneous syndromes may resemble other conditions or medical problems. Always consult your doctor for a diagnosis.

How are neurocutaneous syndromes diagnosed?

Tuberous sclerosis, NF, and Sturge-Weber disease are congenital (present at birth). The diagnosis is made with a physical examination and diagnostic tests. During the examination, the doctor obtains a complete medical history and asks if other family members are known to have any of these conditions. In babies and children, the doctor will also ask about developmental milestones, since these disorders can be associated with other neurological problems and may require further medical follow-up.

Diagnostic tests may include:

How are neurocutaneous syndromes treated?

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

Since neurocutaneous syndromes are lifelong conditions that are not curable, the focus is on medically managing the symptoms. A person is best treated with an interdisciplinary team that may include the following health care providers:

Surgery may be needed to remove tumors that may be cancerous, as well as for cosmetic reasons.

What are the lifelong considerations for a person with neurocutaneous syndromes?

Since tuberous sclerosis, NF, and Sturge-Weber disease are lifelong conditions that are not correctable, management includes focusing on preventing or minimizing deformities and maximizing the person's capabilities at home and in the community. Positive reinforcement will encourage the person to strengthen his or her self-esteem and promote independence.

In children, the full extent of the disease is usually not completely understood immediately after birth, but may be revealed as the child grows and develops.

Genetic counseling may be recommended by the doctor to provide information on the recurrence risks for these disorders and any available testing.

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