Neurofibromatosis-1

Alternative names:

NF1

Symptoms:

Symptoms can be extremely varied, depending on the age of the parent and severity of the disease.

Some symptoms may include:

• mild impairment of intellectual function
• convulsions
• pain (associated with affected peripheral nerves)
• ringing ears (tinnitus)
• deafness (nerve)
• unsteady gait (ataxia)
• dizziness (vertigo)
• blindness

Signs and tests:

The diagnosis of neurofibromatosis is generally made based on physical findings. The cafe-au-lait spot (meaning literally the color of coffee with cream) is the hallmark of neurofibromatosis. Although many people have 1 or 2 small cafe-au-lait spots, people with 6 or more spots greater than 1.5 cm in diameter are considered to have neurofibromatosis.

Other signs include:

• freckling in the armpits (axilla)
• multiple soft tumors that often hang from the skin
• soft nodules under the skin
• large infiltrating tumors under the skin (plexiform neuromas) which cause disfigurement

Tests may include:

• X-ray of the affected site
• MRI of the affected site
• biopsy of skin lesions (see skin biopsy)
• black light test
• other specific tests associated with complications