Neurocutaneous Syndromes

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What are neurocutaneous syndromes?

Neurocutaneous syndromes is the term used for a group of rare neurological disorders that affect the brain, spinal cord, organs, skin, bones and peripheral nerve. Present at birth (congenital), these disorders are chronic, lifelong conditions. Each disorder has different symptoms, and can include tumors, hearing loss, seizures, and developmental problems. These disorders cannot be cured, but treatment is available to help manage symptoms and related health problems. While some of these syndromes can be diagnosed at birth, others don't have symptoms until later in life.

What are the most common neurocutaneous syndromes?

The most common types of syndromes are:

Tuberous sclerosis complex (TSC), the most common type, has symptoms that range from hard-to-treat epilepsy, to mental retardation or autism. It involves multiple organs including heart, lungs, skin, kidneys, in addition to the central nervous system. 

Neurofibromatosis (NF), including NF1, NF2, and Schwannomatosis cause multiple tumors in the nervous system. The tumors express themselves in the skin, and in both the peripheral and central nervous systems. Neurofibroma tumors are the most common type; schwannomas are less common. Although tumors are usually noncancerous (benign), some may have potential for cancer growth (malignancy). 

Schwannomatosis is a rare form of NF and most cases are caused by genetic mutations. The two genetic forms: are: Schwannomatosis 1 (caused by gene mutations in the SWNTS1 gene); and Schwannomatosis 2, which begins in adulthood, causing benign, encapsulated tumors throughout the body.

Sturge-Weber syndrome is of unknown cause and occurs by chance (sporadic). In some cases, other family members have hemangiomas (benign growths that are made of blood vessels). This disease includes a port-wine stain on the face and usually an angioma. It can cause seizures and/or neurologic deficits, and glaucoma (excess pressure in the eye). 

Von Hippel-Lindau syndrome causes multiple organs to develop multiple tumors, including tumors in the brain, renal cells, pancreas, and vascular tumors.

Causes

What causes neurocutaneous syndromes?

These syndromes are present at birth and are caused by gene mutations. 

TSC only requires one copy of the gene mutation to have the disorder. It is not an inherited disorder. The majority of cases are caused by a new gene mutation. However, parents of one child born with TSC have a slightly increased chance of having another child with TSC. It is estimated to occur in one of every 6,000 births in the United States (US). 

NF1, also called von Recklinghausen’s disease, is caused by a gene on chromosome 17. In about half the cases of NF1, the disorder is inherited from a parent with the disorder. A parent with NF1 or NF2 has a 50/50 chance of having a child with NF. NF1 occurs in about one of every 3,000 to 4,000 births in the US.

NF2 is caused by a mutation in chromosome 22. It is less common, occurring in one of every 25,000 US births. NF2 can also be inherited from a parent with the disorder.

Schwannomatosis is a very rare type of NF; only 15% of the cases are inherited.

Sturge-Weber syndrome is of unknown cause and occurs sporadically. Occasionally, other family members have hemangiomas (benign growth of blood vessels).

Von Hippel-Lindau (VHL) syndrome is caused by the mutation of a gene that suppresses tumors (VHL gene). The VHL gene keeps cells from growing and dividing too quickly or uncontrollably.

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Symptoms

What are the symptoms of neurocutaneous syndromes?

Skin lesions or tumors are the most common symptom in children with these syndromes. While symptoms vary with each child, the most common symptoms include:

TSC causes growths called tubers to grow in the retina of the eye, brain, spinal cord, lungs, heart, kidneys, skin and bones. It can also cause developmental delays, intellectual and learning disabilities, and seizures.

NF1 causes patches of light brown pigment on the skin, and benign skin tumors called neurofibromas, which grow on nerves, eyes, and organs. Brain tumors are very common. Less than 1% of the tumors are malignant. Other symptoms may include hearing loss, headaches, seizures, curvature of the spine (scoliosis), facial pain or numbness, renal artery narrowing, and other vascular problems. About 1% of NF1 patients have intellectual disabilities. Almost half have learning problems, hyperactivity or attention deficit disorder. 

NF2 symptoms usually develop between the ages of 18 to 22. Schwannomas grow on nerves, and can lead to hearing loss, headaches, difficulty with facial movements, balance problems and trouble walking. Other symptoms include hearing loss, seizures, tumors around the spinal cord and brain, neurofibromas, and occasionally, patches of darker skin pigmentation. 

Schwannomatosis causes benign tumors throughout the body. These can cause intense pain if they grow large or press on a nerve. Numbness, tingling, or weakness in the fingers and toes can also occur. 

Sturge-Weber syndrome causes a port-wine stain on the face that’s congenital, and caused by too many blood vessels forming under the skin. Brain abnormalities may also be present on the same side of the brain as the stain. Additional symptoms can include seizures, muscle weakness, vision changes (including glaucoma) and intellectual disabilities.

Diagnosis

How are neurocutaneous syndromes diagnosed?

The child’s doctor will conduct a physical exam, take the child’s symptoms and health history, and note developmental milestones in older children. Other tests may include:

  • Blood tests to check for health conditions that can occur in families
  • Magnetic resonance imaging (MRI) and computed tomography (CT) scans produce detailed internal images of the body
  • Electroencephalogram (EEG) records the brain's electrical activity
  • Eye exam to check for glaucoma or growths on the eye
  • Biopsy of a tumor or skin tissue

Treatment

How are neurocutaneous syndromes treated?

Early treatment is very important to provide your child with the best quality of life possible. Treatment is determined by the child’s age, overall health, medical history, extent and type of condition, and the child’s tolerance of medications and therapies. 

A team of medical specialists will work with your child from diagnosis to treatment. The team can include a family practitioner, pediatrician, neurologist, neurosurgeon, orthopedic surgeon, oncologist, geneticist, ophthalmologist, audiologist, and rehabilitation team. They focus on preventing or minimizing complications of these syndromes, and helping the child maximize his/her strengths. Physical, occupational, or speech therapy can help with developmental delays. Psychological counseling and other supportive treatments can help improve your child's coping skills, and help the child’s family cope with the disease. Positive reinforcement can be very helpful for the patient. Support groups provide family support.

Depending on the syndrome, treatment can include:

TSC that causes hard-to-treat seizures is generally treated with surgery. This can provide partial to significant symptom relief. 

NF tumors can become malignant, causing malignant peripheral nerve sheath tumors (MPNST), which contribute to a shorter lifespan for NF patients. 

Sturge-Weber syndrome treatment focuses on controlling glaucoma, seizures and growths on the skin. Glaucoma is controlled with multiple surgeries, and medication to decrease eye pressure and prevent optic nerve damage. Seizures are helped with medications and surgeries. Laser therapy can remove the skin growths, and is most successful if started early. 

Von Hippel-Lindau syndrome treatment depends on the type of tumors and their location. If angioblastomas are small and not in a prominent place, they may not be treated. Some tumors do not continue to grow, while others develop cysts that enlarge and cause symptoms.

References

Johns Hopkins Medicine. (N.d.) Neurocutaneous Syndromes in Children. Retrieved 1-6-22, {https://www.hopkinsmedicine.org/health/conditions-and-diseases/neurocutaneous-syndromes-in-children#:~:text=Neurocutaneous%20syndromes%20are%20disorders%20that,Each%20disorder%20has%20different%20symptoms}
Nemours. (N.d.) Neurocutaneous Syndromes. Nemours KidsHealth. Retrieved 1-6-22, {https://kidshealth.org/en/parents/neurocutaneous.html}
Medscape. (2016, Jan) Pathology of Neurocutaneous Syndromes. Retrieved 1-6-22, {https://emedicine.medscape.com/article/1743935-overview}
Children’s Hospital of Philadelphia. (N.d.) Neurocutaneous Syndromes in Children. Retrieved 1-6-22, {https://www.chop.edu/conditions-diseases/neurocutaneous-syndromes-children}
Stanford Children’s Health (N.d.) Neurocutaneous Syndromes in Children. Retrieved 1-6-22,{https://www.stanfordchildrens.org/en/topic/default?id=neurocutaneous-syndromes-in-children-90-P02614}

Information

Medically reviewed by:

Dr. Desiree Levyim

Dr. Desiree Levyim is a board eligible neurologist in practice since 2020. She joins TeleMed2U in our mission to provide increased access to healthcare.

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