Neurofibromatosis

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WHAT IS NEUROFIBROMATOSIS?

Neurofibromatosis is when bumps grow on nerves in the body. These bumps can be flat, colored spots (cafe au lait spots) on the skin [See figure 1] or raised bumps.

Fig. 1: Cafe au lait spots, flat colored spots on the skin.

WHY DOES A CHILD GET NEUROFIBROMATOSIS?

It often runs in families. It is caused by a gene problem (mutation) that parents can pass to their kids. There are different genes that can cause different type of neurofibromatosis. Sometimes it can happen to a child with no family history.

HOW COMMON IS NEUROFIBROMATOSIS?

Type I is more common. About 1 in 3000 to 5000 people have neurofibromatosis type I. About 1 in 25,000 have type II.

Fig. 2: Eyelid neurofibroma.

WHAT ARE THE FINDINGS IN NEUROFIBROMATOSIS?

Some of the signs are: 

Type I

• Skin:  big freckles (cafe-au-lait spots) on the skin [See figure 1].  
• Eyes:
  • Neurofibromas – thick eyelids with a curved shape [See figure 2].
  • High eye pressure (glaucoma)
  • Lazy eye (amblyopia).
  • Colored spots on the iris (Lisch nodules) [See figure 3].
  • Spots on the inner layers of the eye (choroid)
  • Tumor on the nerve that connects the eye to the brain (optic nerve glioma) [See figure 4]. This tumor may cause vision problems.
• Bones:  poor bone growth, small or missing eye socket bone
• Other:  crooked spine (scoliosis), seizures, learning problems, large head, cancer (leukemia, Wilm's tumor, rhabdomyosarcoma, and pheochromocytoma).

Fig. 3: Iris Lisch nodules.

Fig. 4: CT of optic nerve glioma.

Type II

• Hearing problems:  from an ear nerve tumor (acoustic neuroma).
• Eye problems:  cloudy spots in the eye (cataract), spots on the iris (Lisch nodules), spots on the inner layers of the eye (retina).
• Other:  balance problems and brain tumors.

HOW IS NEUROFIBROMATOSIS FOUND?

Doctors can look for signs of neurofibromatosis during check-ups. They might do eye tests, blood tests or other tests to look for signs of neurofibromatosis.

WHAT ARE THE TREATMENTS?

Neurofibroma

If the bumps get very large, surgery may be needed. But bumps may come back.

Optic nerve glioma

Tumors on the nerve that connects the eye to the brain (optic nerve glioma) are often just watched. Sometimes medicines or surgery are needed. 

Please speak with your pediatric ophthalmologist if you have more questions about neurofibromatosis.

WHERE CAN I GET MORE INFORMATION ABOUT NEUROFIBROMATOMOUS?

• Contact the Children’s Tumor Foundation
• More scientific information can be found at: https://eyewiki.org/Neurofibromatosis

Updated 06/2024

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