Written By Keisya Talitha Aulia
Definition
Neurocutaneous Syndromes are groups of central nervous system disorders with lesions in the skin, eye, and other organs. This syndrome is also referred to as phakomatoses. They affect the brain, spinal cord, organs, skin, and bones. Due to its long-term conditions, tumors can be caused to develop in these areas. They also cause other potential problems such as seizures and developmental problems. Researchers found that there are three most common types that generally can be found in neurocutaneous syndromes. Including tuberculosis sclerosis (TS), neurofibromatosis (NF) as well as NF1, NF2, schwannomatosis, and Sturge-weber disease.
Causes in Children
Tuberculosis Sclerosis (TS)
Tuberculosis sclerosis (TS) is caused by gene changes that present early at birth. It is considered to be an autosomal dominant disorder. Autosomal means all genders can be affected while dominant means only one copy of the gene is required to cause this condition. In most cases, TS is not inherited because it is caused by mutations of the genes.
Neurofibromatosis (NF)
Unlike TS, neurofibromatosis includes NF type 1, NF type 2, and schwannomatosis. NF 1 is also considered to be an autosomal dominant disorder and more common with a prevalence of 1:3,000. It also can be inherited from parents with the same disease. Studies say that changes in a gene for this condition happen on chromosome 17. However, NF 2 is less common with a prevalence of 1:25,000 and gene changes occur on chromosome 22. In conclusion, NF is a result of gene changes. Sometimes they are not inherited but could affect all genders. On the other hand, schwannomatosis is rare and divided into two forms such as schwannomatosis 1 and schwannomatosis 2. Schwannomatosis 1 or congenital cutaneous neurilemmoma caused by mutations in a SWNTS1 gene. While schwannomatosis 2 is more likely to present in adulthood and develops throughout the body with no other symptoms.
Sturge-Weber Disease
The cause of Sturge-Weber disease is currently unrevealed. Research is still being developed, but researchers think that it happens by chance (sporadic). Also, mutations might occur in a GNAQ gene.
Potential Symptoms
Although neurological traits present at a later age, indications are commonly known to appear early in life and develop over time. Most common disorders in children cause the growth of the skin. Nevertheless, each disorder has different symptoms.
Tuberculosis Sclerosis
Tuberculosis sclerosis (TS) causes intellectual disability, developmental delays, seizures, and learning disabilities. Further, it can also cause growth called tubers in the brain and eye’s retina. It also affects many organs such as skin, bones, kidneys, lungs, heart, brain, and spinal cord.
Neurofibromatosis Type 1 (NF1)
The symptoms include light brown pigment patches on the skin known as cafe-au-lait spots. Children may also have skin tumors but not cancer (benign) called neurofibromas that often grow on the nerves and organs. They may also experience Lisch problems or small tumors on part of the eye, specifically the iris. Other symptoms such as hearing loss, scoliosis, intellectual disability such as learning problems, and attention deficit. However, they still can live normal and productive lives.
Neurofibromatosis Type 2 (NF2)
Neurofibromatosis Type 2 (NF2) usually occurs at a later age (18-22). Children might experience hearing loss, problems with facial movements, balance, and walking problems. Others include seizures, membrane tumors around the brain and spinal cord (meningiomas), skin nodules (neurofibromas), cataracts, and light brown pigment patches on the skin (cafe-au-lait spots).
Schwannomatosis
Schwannomatosis is rare with approximately 1 in 40,000. They grow throughout the body without other symptoms of NF1 or NF2. Usually, intense pain occurs when they grow larger or pressed on a never or nearby tissue.
Sturge-Weber Disease
The common symptom is a flat area called port wine stain on a child's face around the eye and forehead from red to dark purple that occurs from birth because of too many tiny blood vessels under the skin. Children might experience muscle weakness, vision changes, intellectual disabilities, and pressure in the eye (glaucoma) at birth. However, they do not affect other organs.
Diagnose Process
The diagnosis process could be done through several methods such as genetic tests including blood tests or tools like MRI, CT scan, and Electroencephalogram (EEG). Eye exams can also be done on the retina’s growth and pressure in the eye. A biopsy might also be an option in which a sample of tissue from tumors is taken and examined with a microscope.
Syndrome Treatments
Neurocutaneous syndromes treatment will be decided based on how severe the condition is, age, symptoms, and general health. Although neurocutaneous syndrome is a lifetime condition and has no cure, healthcare providers will work on managing symptoms and preventing problems. However, sometimes surgery might be done to remove tumors that can be cancer.
References
John Hopkins Medicine. Neurocutaneous Syndromes in Children. Retrieved on March 3, 2024 from https://www.hopkinsmedicine.org/health/conditions-and-diseases/neurocutaneous- syndromes-in-children
Purkait, R., Samanta, T., Thakur, S., & Dhar, S. (2011). Neurocutaneous syndrome: a prospective study. Indian journal of dermatology, 56(4), 375–379. https://doi.org/10.4103/0019-5154.84721
Rush, Patrick R. (2016). Pathology of Neurocutaneous Syndromes. Retrieved on March 3, 2024 from https://emedicine.medscape.com/article/1743935-overview?form=fpf
Trouilloud, Lucas AG., Mendez, MD. (2023). Neurocutaneous Syndromes. StatPearls Publishing.
UFHealth Department of Neurology. Neurocutaneous Syndrome. Retrieved on March 3, 2024 from https://neurology.ufl.edu/divisions/neurofibromatosis-center/neurocutaneous-
syndrome/
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