Q85.0: Neurofibromatosis (nonmalignant)

Neurofibromatosis involves malformations of the skin and nervous system. This disorder is congenital, which means you were born with it. Other family members may also be affected.

The nervous system includes all the nerves in the body, as well as the brain and the spinal cord. The nerves run from the brain and spinal cord into the body. They convey information in the body. When a person is developing during pregnancy, the skin and the nervous system develop from the same type of precursor cells. With neurofibromatosis, the genetic make-up of these precursor cells is changed. This causes various malformations of the skin, nerves and brain.

For example, darker colored spots may appear on the skin. These areas are called café au lait spots because they can look light brown like milky coffee. Café au lait spots are evenly colored and have a clearly recognizable edge. Skin-colored, reddish or bluish tumors can also form on or under the skin. The tumors can be tiny and hardly visible or be several centimeters.

Benign or malignant tumors can develop in the nervous system. This means the affected nerves are no longer able to work as normal. If nerves under the skin are affected, you can see or feel the tumors through the skin. If the tumors sit deep in the skin, the skin over them can be thickened unevenly. If nerves in the brain or near the brain are affected, you can have poor hearing or vision, for example. You can also have seizures, balance problems, paralyses and other issues.

Tumors can also form in the eyes. The tumors can be visible as dark spots in the eyes. Neurofibromatosis can also cause malformations, such as benign or malignant tumors, on other organs.