What Is Neurofibromatosis Type I (NF-1)?
Neurofibromatosis is a genetic condition that causes skin abnormalities and tumors to form in areas of the nervous system. These symptoms usually start in childhood.
Symptoms affecting the skin include café au lait spots (flat, pigmented patches), freckles in the armpits and groin, and neurofibromas (benign or nonmalignant tumors that grow on small nerves under the skin).
The eyes can develop Lisch nodules, which are small spots on the iris that do not affect vision, and tumors on the optic nerve called optic gliomas. NF-1 also can affect bones.
Because NF-1 is a genetic disorder, our team may recommend genetic testing (blood test) if the clinical features point to this disease. Complete neurological and eye exams also may be performed. We may recommend imaging studies (MRI) of the brain, optic nerves and spinal cord. We also may recommend X-rays if we suspect changes in the bone.
There is no cure for NF-1, but monitoring your child’s disease is important. At checkups, your doctor will evaluate for new neurofibromas or changes in previously identified neurofibromas, check your child’s growth and development, and evaluate for signs of early puberty. Regular eye exams are part of long-term monitoring in NF-1. Surgery rarely is necessary, but maye be needed to remove a tumor that is compressing nearby tissue or causing significant pain.