Neurofibromatosis

Neurofibromatosis is a genetic disorder of the nervous system. Tumors form on your nerve tissues. Mainly, neurofibromatosis disorders affect the growth and development of nerve cell tissue.

Causes #

Mutations that lead to neurofibromatosis include:

Neurofibromatosis 1 (NF1) #

The NF1 gene on chromosome 17 makes a protein called neurofibromin that controls your cells’ growth. The mutation of this gene causes a neurofibromin loss and uncontrolled cell growth.

Neurofibromatosis 2 (NF2) #

The NF2 gene on chromosome 22 makes a protein called merlin or schwannomin. It suppresses tumors. Changes to this gene cause a loss of merlin and uncontrolled cell growth.

Schwannomatosis #

Mutations of the two known genes linked to schwannomatosis, SMARCB1 and LZTR1, which both suppress tumors, are associated with this type of neurofibromatosis.

Symptoms #

Neurofibromatosis symptoms #

• Loss of hearing

• Weakness of the muscles of the face

• Dizziness

• Poor balance

• Uncoordinated walking

• Cataracts (cloudy areas on the lens of the eye) that develop at an unusually early age

• Headaches

Schwannomatosis symptoms #

People with schwannomatosis may have the following symptoms:

• Pain from the enlarging tumors

• Numbness and tingling of the fingers or toes

• Weakness in the fingers and toes

• Chronic pain

• Loss of muscle

Diagnosis #

• Physical examination

• Medical history

• Family history

• X-rays

• Computerized tomography (CT) scans

• Magnetic resonance imaging (MRI)

• Biopsy of neurofibromas

• Eye tests

• Tests for particular symptoms, such as hearing or balance tests

• Genetic testing

Complications #

• Neurological problems like trouble learning or thinking

• Anxiety or distress with changes to your appearance, like large numbers of cafe au lait spots

• Skeletal problems, like bowing of the legs, scoliosis, fractures that don’t heal, or low bone density that increases your risk of osteoporosis

• Vision problems due to a tumor pressing against the optic nerve

• Problems during times of hormonal changes, such as puberty or pregnancy

• Cardiovascular problems like high blood pressure

• Breathing problems

• Higher risk of some cancers, such as breast cancer, leukemia, colorectal cancer, brain tumors, and some soft tissue cancers

• Benign adrenal gland tumor that could cause high blood pressure

Treatment #

• Surgery to remove problem growths or tumors

• Treatment that includes chemotherapy or radiation if a tumor has turned malignant, or cancerous

• Surgery for bone problems, like scoliosis

• Therapy (including physical therapy, counseling, or support groups)

• Cataract removal surgery

• Aggressive treatment of pain linked to the condition

• Stereotactic radiosurgery

• Auditory brainstem and cochlear implants