Skin, Bone and Eye Abnormalities

Most individuals with NF1 have multiple café-au-lait macules and/or skinfold freckling. Individuals with NF1 are also more prone to developing bone and eye abnormalities.

Skin abnormalities in NF1

Café-au-lait macule

Café-au-lait macules

Café-au-lait macules are flat, darkly pigmented spots or birthmarks on the skin, typically present at birth.

Skinfold freckling

These freckles are commonly seen in patients with NF1 in areas of the body not exposed to the sun, like the armpits and groin. They also may be found under the neck or under the breasts in women.

Bone abnormalities in NF1

Children with NF1 are prone to the development of bone deformities involving the lower leg, forearm and eye socket. Deformities of the lower leg and forearms can cause a bowing of these bones and lead to repeated fractures. Those bone problems involving the eye socket can affect the way the eye sits in the socket. All of these bone deformities are typically noticed early in childhood and are treated promptly.

Lisch nodules

Eye abnormalities in NF1

Some individuals with NF1 will have Lisch nodules, benign pigmented growths on the iris (the colored portion of the eye). They are usually found in both eyes but do not interfere with vision.