What Are Neurocutaneous Syndromes?
Neurocutaneous syndrome is a broad term for a group of lifelong neurologic disorders that cause tumors to grow inside the spinal cord, brain, skin, organs or bones. The three main syndromes — tuberous sclerosis (TS); neurofibromatosis (NF), including NF types I and II and schwannomatosis; and Sturge-Weber disease — are congenital, although the role of genetics varies by syndrome:
- Neurofibromatosis — These tumors, typically noncancerous but sometimes malignant, can grow anywhere in the nervous system. Neurofibromatosis, which is usually not inherited, generally appears after mid-20s.
- Sturge-Weber disease — This form is characterized by abnormal changes in the brain or skin. The classic symptom of this disease is a port-wine stain on the face, typically near or around the eye and forehead areas. Glaucoma (increased eye pressure) may develop or may be present at birth.
- Tuberous sclerosis — This syndrome, resulting from a genetic mutation, is identified by growths called tubers that develop in the retinal area of the eye or inside of the brain.
Symptoms
Symptoms vary by syndrome and individual:
- Neurofibromatosis — Symptoms differ depending on the NF type, which is characterized by tumors on the nerves. Possible symptoms include hearing loss, headaches, seizures, pain, numbness and light-brown patches on the skin.
- Sturge-Weber disease — The hallmark symptom is a port-wine stain near the eye or forehead. It is sometimes accompanied by brain abnormalities that cause seizures, muscle weakness, intellectual disability or vision problems.
- Tuberous sclerosis — Growths can develop in various areas, often the brain and retina, but also in the spinal cord, lungs, heart, kidneys, skin and bones. While the tumors are benign, their side effects can be life-threatening. All people with TS have skin abnormalities. Brain involvement can cause seizures and behavioral and learning problems.
Treatment Options
Neurocutaneous syndrome is not curable, but physicians often can manage symptoms through an assortment of treatments.
- Chemotherapy and radiation — Chemotherapy or radiation can shrink growths or slow progression.
- Rehabilitation — Therapists can help patients learn to adapt to changes that might limit speech and movement.
- Surgery — Growths that lead to pain and infection, or those that impede the organs, are often surgically removed. Surgical time and recovery can vary based on the complexity of the procedure.
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