Neurofibromatosis

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Signs and Symptoms

Type 1 NF
Early symptoms of Type 1 neurofibromatosis include multiple skin lesions (called cafe au lait spots) that appear during infancy. These lesions can occur anywhere on the body and become more numerous during childhood. Cafe au lait spots also occur in healthy infants and about 10% of the general population has one or two.

During adolescence, benign tumors may develop on the skin (cutaneous), under the skin (subcutaneous), and in connective nerve tissue (neurofibromas). These tumors may be painful and in about 2–5% of cases, they become malignant. Some cutaneous lesions can be pressed into the skin manually (called buttonholing).

Other symptoms of Type 1 NF include the following:

• Curvature of the spine (scoliosis)
• Dizziness
• Enlargement and deformity of the bones (may cause chronic pain)
• Hearing loss
• Learning disabilities
• Tumors of the optic nerve, or optic gliomas (may cause blurry vision, vision loss, and Lisch nodules on the iris)

Type 2 NF
In Type 2 neurofibromatosis, tumors frequently develop on the eighth cranial nerve (called the vestibulocochlear nerve), causing symptoms such as dizziness, ringing in the ears (tinnitus), loss of balance, and significant hearing loss. Symptoms of this type usually develop during adolescence or early adulthood. Skin lesions do not always appear in Type 2 NF.

Schwannomatosis
The hallmark of this condition is severe chronic pain, which can occur in any part of the body. In about 33% of patients with schwannomatosis, only one part of the body (e.g., one arm, one leg) is affected.

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