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Neurocutaneous syndromes are disorders that affect the brain, spinal cord, organs, skin, and bones. The diseases are lifelong conditions that can cause tumors to grow in these areas. They can also cause other problems such as hearing loss, seizures, and developmental problems. Each disorder has different symptoms. The most common disorders in children cause skin growths.
The 3 most common types of neurocutaneous syndromes are:
These diseases are all present at birth (congenital). They are caused by gene changes.
Tuberous sclerosis (TS) is an autosomal dominant disorder. Autosomal means that both boys and girls are affected. Dominant means that only 1 copy of the gene is needed to have the condition. A parent with TD or the gene for TD has a 50% chance to pass the gene on to each child. Many children born with TS are the first cases in a family. This is because most cases of TS are caused by a new gene change (mutation), and are not inherited. But the parents of a child with TS may have very mild symptoms of the disorder. The parents are believed to have a slightly increased risk of having another child with TS.
Neurofibromatosis Type 1 (NF1) occurs in about 1 in 3,000 to 4,000 babies in the U.S. NF1 is an autosomal dominant disorder. It’s caused by changes in a gene on chromosome 17. In 50% of cases, this is inherited from a parent with the disease.
Neurofibromatosis Type 2 (NF2) is less common. It affects about 1 in 25,000 babies in the U.S. The gene change that causes NF2 is on chromosome 22.
A parent with NF has a 50% chance of passing on the genetic mutation and disease to each child.
NF may also be the result of a new gene change. From 3 in 10 to 1 in 2cases of NF are caused by a new mutation and not inherited. Boy and girls are equally affected.
Schwannomatosis is a form of NF. It is rare, and only 3 in 20 cases are inherited. There are 2 genetic forms of schwannomatosis:
The cause of Sturge-Weber disease is not known. Researchers think it occurs by chance (sporadic). In some cases, other family members have hemangiomas. These are noncancer (benign) growths that are made of blood vessels. Some children with this condition may have mutations in a gene called GNAQ.
A child is more at risk for a neurocutaneous syndrome if he or she has a family member with one of the syndromes.
Symptoms can occur a bit differently in each child. Below are the most common symptoms for each condition:
This causes growths called tubers to grow in the brain and retina of the eye. Tuberous sclerosis also affects many other organs in the body. It can affect the brain, spinal cord, lungs, heart, kidneys, skin, and bones. It can also cause intellectual disability, developmental delays, seizures, and learning disabilities.
This is the more common of type of neurofibromatosis. It is also called Von Recklinghausen's disease. The classic symptom of NF1 is light brown patches of pigment on the skin. These are known as cafe-au-lait spots. A child may also have skin tumors that are not cancer (benign). These are called neurofibromas. Neurofibromas are often found growing on the nerves and in organs. There is a higher rate of brain tumors in people with NF. Less than 1 in 100 people with NF1 will have cancer (malignant) in the neurofibromas. An older child may also have Lisch nodules. These are small tumors on the colored part of the eye (iris). These usually do not cause problems. Other symptoms can include hearing loss, headaches, seizures, scoliosis, and facial pain or numbness. Intellectual disability of varying degree may be slightly more common in people with NF1. About half may have a variety of learning problems and attention deficit disorder. Renal artery stenosis and other vascular problems may occur with NF1.
NF2 affects about 1 in 25,000 people. The symptoms usually appear between ages 18 and 22. The tumors called schwannomas grow on a vestibular nerve branch. These are known as bilateral vestibular schwannomas (BVS). These tumors on the 8th cranial nerve can lead to hearing loss, headaches, problems with facial movements, problems with balance, and trouble walking. A child may have hearing loss. Other signs of NF2 may include seizures, tumors of the membranes around the brain and spinal cord (meningiomas), skin nodules (neurofibromas), and cafe-au-lait spots.
This type of neurofibromatosis causes schwannomas to grow through the body, but without other symptoms of NF1 or NF2. The main symptom is intense pain that occurs when a schwannoma grows larger or presses on a nerve or nearby tissue. Other symptoms may include numbness, tingling, or weakness in the fingers and toes.
The classic symptom of this disease is a mark on a child’s face called a port wine stain. A port wine stain is a flat area on the skin that varies in color from red to dark purple. It is present from birth. It is most often found near or around the eye and forehead. The birthmark is caused by too many tiny blood vessels forming under the skin. There may also be related brain abnormalities on the same side of the brain as the face lesion. A child may also have seizures, muscle weakness, changes in vision, and intellectual disability. A child may also have increased pressure in the eye (glaucoma) at birth. Sturge-Weber disease does not affect the other organs of the body.
The symptoms of neurocutaneous syndromes can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.
The healthcare provider will ask about your child’s symptoms, health history, and developmental milestones. He or she may also ask about your family’s health history. He or she will give your child a physical exam. Your child may also have tests, such as:
Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is. Neurocutaneous syndromes are lifelong conditions that have no cure. Because of this, your child’s healthcare providers will work to:
A child is treated by a healthcare team that may include:
Treatment varies as needed. In some cases, surgery may be done to remove tumors that may be cancer or for cosmetic reasons.
Talk with your child’s healthcare providers about the risks, benefits, and possible side effects of all treatments.
Your healthcare provider may advise genetic counseling. You can discuss with a counselor the risk for a neurocutaneous syndrome in a future pregnancy.
A neurocutaneous syndrome is a lifelong condition that has no cure. Your child’s healthcare providers will work to prevent deformities or keep them to a minimum. They will also work to help your child make the most of his or her abilities. You can help your child strengthen his or her self-esteem and be as independent as possible. Physical and occupational rehabilitation, plus extra support in school, can help a child function as well as possible.
The full extent of a neurocutaneous syndrome is usually not completely known right after birth. It can become clearer as a child grows and develops.
Call the healthcare provider if your child has:
Tips to help you get the most from a visit to your child’s healthcare provider:
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