Neurofibromatosis

Neurofibromatosis is an inherited disorder characterized by tumors involving nerve tissue in the skin. It also appears in families with no previous history of the condition, due to a new genetic mutation in the sperm or the egg. Neurofibromatosis causes uncontrolled growth of tissue along the nerves. The resulting pressure can cause pain and severe nerve damage. This may lead to loss of function in the area served by the nerve. Symptoms can be extremely varied, depending on age and the severity of the disease. They include mild impairment of intellectual function, leg bone fractures, skin spots, convulsions, blindness and skin tumors.

Symptoms of a second variation may include balance problems, cataracts at a young age, headaches, hearing loss or ringing in the ears. Adults with six or more spots the color of coffee with milk, greater than 1.5 cm in diameter, are likely to have neurofibromatosis. Tumors that cause pain or loss of function are usually removed. The life expectancy of people with neurofibromatosis is almost normal, barring complications. Although mental impairment is generally mild, Neurofibromatosis can also result in attention deficit hyperactivity disorder in a minority of patients.

The Walt Disney Pavilion at the Florida Hospital for Children provides care for children, adolescents and adults who have been diagnosed or suspected to have neurofibromatosis. 

Learn more about our Neurofibromatosis Clinic at the Florida Hospital for Children website.