Neurofibromatosis: Signs and Symptoms

What are the signs and symptoms of neurofibromatosis (NF1)?

Freckles and color changes to patches of skin
The most common initial symptoms of neurofibromatosis (a genetic condition that causes non-cancerous growths) are seen on the skin. The earliest signs of NF1 may be café au lait macules and freckling under the arms, in the folds of skin, or in the groin. Café au lait macules (French for “coffee with milk”) are patches of skin that are light brown and may be present at birth. More tend to develop over time, but these marks do not cause problems themselves.

Small growths on the skin
Small growths (called neurofibromas) may occur on the surface of the skin or just beneath the skin. These may appear at any time during life and do not typically cause problems because they tend to remain small. Plexiform neurofibromas are a different type of growth that can occur anywhere under the skin or in any part of the body. These growths may be larger and may become cancerous in a small percentage of people.

Eye and bone changes
Clumps of pigment may form in the iris of the eye, but do not affect vision. Sometimes patients with NF1 develop an optic glioma, a growth on the optic nerve, which may affect vision. Abnormal bone development may affect some individuals.

Other common features
Other features may occur in an individual with NF1 but are not used to make a diagnosis. They include: large head size, scoliosis, seizures, learning difficulties, headaches, short stature and high blood pressure. This list does not include all features of NF1, only the most common features.