Neurofibromatosis

Learning objectives

Neurofibromatoses are a group of genetic disorders that cause tumors to form on nerve tissue
Tumors can develop in the brain, spinal cord, or nerves
An autosomal dominant disorder caused by a genetic mutation in oncogenes
Three types of neurofibromatosis:
- Neurofibromatosis 1: usually diagnosed in childhood
- Neurofibromatosis 2: usually diagnosed in early adulthood
- Schwannomatosis: usually diagnosed in early adulthood
Tumors are usually benign but can sometimes become malignant

Neurofibromatosis 1	Neurofibromatosis 2	Schwannomatosis
Flat, light brown spots on the skin (cafe au lait spots) Freckling in the armpits or groin area Tiny bumps on the iris of the eye (Lisch nodules) Soft, pea-sized bumps on or under the skin (neurofibromas) Bone deformities Tumor on the optic nerve (optic glioma) Learning disabilities Large than average head size Short stature	Signs and symptoms of NF2 usually result from the development of benign, slow-growing acoustic neuromas Gradual hearing loss Ringing in the ears Poor balance Headaches	Causes tumors to develop on the cranial, spinal, and peripheral nerves Chronic pain, which can occur anywhere in the body and can be disabling Numbness or weakness in various parts of the body Loss of muscle
	Sometimes NF2 can lead to the growth of schwannomas in other nerves, including the cranial, spinal, visual (optic), and peripheral nerves Numbness and weakness in the arms or legs Pain Balance difficulties Facial drop Vision problems or cataracts Seizures Headache