- CASE FILE
Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue. These tumors can develop anywhere in your nervous system
ABOUT THIS CASE FILE
There are three types of neurofibromatosis, each with different signs and symptoms.
Neurofibromatosis 1 (NF1) usually appears in childhood. Signs are often noticeable at birth or shortly afterward, and almost always by age 10. Signs and symptoms are often mild to moderate, but can vary in severity.
Signs and symptoms include:
Flat, light brown spots on the skin (cafe au lait spots). These harmless spots are common in many people. Having more than six cafe au lait spots is a strong indication of NF1. They are usually present at birth or appear during the first years of life. After early childhood, new spots stop appearing.
Freckling in the armpits or groin area. Freckling usually appears by ages 3 to 5. Freckles are smaller than cafe au lait spots and tend to occur in clusters in skin folds.
Tiny bumps on the iris of the eye (Lisch nodules). These harmless nodules can't easily be seen and don't affect vision.
Soft, pea-sized bumps on or under the skin (neurofibromas). These benign tumors usually develop in or under the skin, but can also grow inside the body. Sometimes, a growth will involve multiple nerves (plexiform neurofibroma). Plexiform neurofibromas, when located on the face, can cause disfigurement. Neurofibromas may increase with age.
Bone deformities. Abnormal bone growth and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or bowed lower leg.
Tumor on the optic nerve (optic glioma). These tumors usually appear by age 3, rarely in late childhood and adolescence, and almost never in adults.
Learning disabilities. Impaired thinking skills are common in children with NF1 but are usually mild. Often there is a specific learning disability, such as a problem with reading or mathematics. Attention-deficit/hyperactivity disorder (ADHD) also is common.
Larger than average head size. Children with NF1 tend to have a larger than average head size due to increased brain volume.
Short stature. Children with NF1 often are below average in height.
Neurofibromatosis 2 (NF2) is much less common than NF1. Signs and symptoms of NF2 usually result from the development of benign, slow-growing tumors in both ears (acoustic neuromas), which can cause hearing loss. Also known as vestibular schwannomas, these tumors grow on the nerve that carries sound and balance information from the inner ear to the brain.
Signs and symptoms generally appear in the late teen and early adult years, and can vary in severity. Signs and symptoms can include:
Gradual hearing loss
Ringing in the ears
Sometimes NF2 can lead to the growth of schwannomas in other nerves of the body, including the cranial, spinal, visual (optic) and peripheral nerves. Signs and symptoms of these schwannomas can include:
Numbness and weakness in the arms or legs
Vision problems or the development of cataracts