Neurocutaneous Syndromes in Children
Neurocutaneous syndromes are
disorders that affect the brain, spinal cord, organs, skin, and bones. The diseases
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:
- Tuberous sclerosis (TS)
- Neurofibromatosis (NF), including NF1,
NF2, and schwannomatosis
- Sturge-Weber disease
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 TS or the gene for TS 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
are caused by a new gene change (mutation), and are not inherited. But the parents
child with TS may have very mild symptoms of the disorder. The parents are believed
have a slightly increased risk of having another child with
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 half of the cases,
is inherited from a parent with the disease.
Neurofibromatosis Type 2 (NF2) is
less common, is also an autosomal dominant disorder. It affects about 1 in 25,000
in the U.S. The gene change that causes NF2 is on chromosome 22.
A parent with NF has a 1 in 2
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 2 cases of NF are caused by a new mutation and not
inherited. Boys and girls are equally affected.
Schwannomatosis is a form of NF.
It's rare, and only 3 in 20 cases are inherited. There are 2 genetic forms of
Schwannomatosis 1. This is caused by
mutations in either the SMARCB1 or LZTR1 genes. This condition is also known as
congenital cutaneous neurilemmomatosis.
Schwannomatosis 2. This condition
starts in adulthood. It causes schwannomas (benign nerve tumors) to grow throughout
the body. But it has no other symptoms.
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
blood vessels. Some children with this condition may have mutations in a gene called
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.
Neurofibromatosis Type 1 (NF1)
This is the more common type of
neurofibromatosis. It's 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
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.
Neurofibromatosis Type 2 (NF2)
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), cataract, 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
flat area on the skin that varies in color from red to dark purple. It's present from
birth. It's 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
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
Genetic tests. These are blood tests.
They check for health conditions that tend to run in families.
MRI. This test uses large magnets, radio waves, and a computer to make images of the inside
of the body.
CT scan. This test uses a series of X-rays and a computer to create images of the inside of
the body. A CT scan shows more detail than a regular X-ray.
Electroencephalogram (EEG). This test records the brain's electrical activity through sticky pads (electrodes)
attached to the scalp.
Eye exam. This is done to check for
growths on the retina, cataract, or excess pressure in the eye.
Biopsy. A small sample of tissue from a tumor or skin lesion may be taken. This is checked
with a microscope.
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:
- Manage symptoms such as seizures
- Prevent or lessen problems
- Make the most of a child's abilities
A child is treated by a healthcare team that may include:
Pediatrician or family doctor. This
is a child’s primary healthcare provider.
Neurologist. This is a healthcare
provider who treats conditions of the brain, spinal cord, and nerves.
Neurosurgeon. This is a surgeon who
treats the brain and spinal cord.
Orthopedic surgeon. This is a surgeon
who treats muscles, ligaments, tendons, and bones.
Ophthalmologist. This is a healthcare
provider who treats eye problems.
Oncologist. This is a healthcare
provider who treats cancer and other tumors.
Rehabilitation team. This team may
include physical, occupational, speech, and audiology therapists. It may also include
nurses, and social workers.
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.
When to Call a Healthcare Provider
Call the healthcare provider if your child has:
- Symptoms that don’t get better, or get worse
- New symptoms
- 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
- Each disorder has different symptoms. The most common disorders in children cause
- The 3 most common types of neurocutaneous syndromes are tuberous sclerosis (TS), neurofibromatosis
(NF), and Sturge-Weber disease.
- These diseases are all present at birth (congenital). They are caused by gene changes.
- A neurocutaneous syndrome is a lifelong condition that has no cure. In some cases,
surgery may be done to remove tumors that may be cancer or for cosmetic reasons.
Tips to help you get the most from a visit to your child’s healthcare provider:
- Know the reason for the visit and what you want to happen.
- Before your visit, write down questions you want answered.
- At the visit, write down the name of a new diagnosis, and any new medicines, treatments,
or tests. Also write down any new instructions your provider gives you for your child.
- Know why a new medicine or treatment is prescribed and how it will help your child.
Also know what the side effects are.
- Ask if your child’s condition can be treated in other ways.
- Know why a test or procedure is recommended and what the results could mean.
- Know what to expect if your child does not take the medicine or have the test or procedure.
- If your child has a follow-up appointment, write down the date, time, and purpose
for that visit.
- Know how you can contact your child’s provider after office hours. This is important
if your child becomes ill and you have questions or need advice.