Neurocutaneous syndromes are a group of neurological disorders characterized by the growth of tumors in the brain, organs, skeletal bones, skin and spinal cord. They are present at birth, and are primarily genetically inherited.

The most common types of neurocutaneous syndromes include:

• Neurofibromatosis. Causes tumors on a child’s nerve cells that lead to symptoms such as skin changes, bone deformities, eye problems and brain complications. There are two types: Neurofibromatosis Type I and Type II.
  
  
• Tuberous sclerosis. Benign growths called tubers form on body organs such as the brain, eyes, kidneys, heart, skin and lungs.
  
  
• Sturge-Weber syndrome. Rare condition that occurs as the result of a spontaneous genetic mutation. It affects the brain and skin and symptoms differ significantly from patient to patient.
  
  
• Von Hippel-Lindau disease. Inherited disorder in which the patient experiences abnormal growth of blood vessels that form small tumors.
  
  
• Ataxia telangiectasia. An inherited degenerative disease that may affect several major body systems.

Signs and symptoms associated with neurocutaneous syndromes vary depending on the type of condition that a patient has. However, certain symptoms are common to many types of neurocutaneous syndromes, including skin lesions resembling birthmarks, seizures and speech problems.

Neurocutaneous syndromes tend to be inherited, and a physician will likely ask about a family history of the suspected disorder. Symptoms can appear during childhood, so a physician may also ask whether certain developmental milestones have been reached.

Ultraviolet light may be used to identify skin lesions not visible under ordinary lighting conditions. In addition, certain imaging tests and blood tests may be used to diagnose or rule out other conditions.

There is no cure for the neurocutaneous syndromes. However, treatments are available that can help reduce symptoms and enable patients to lead fuller lives. These may include medications, surgeries and other therapies.