What is Neurofibromatosis Type 1?

Neurofibromatosis type 1 is an inherited condition where people experience skin changes and benign tumors throughout their bodies. It follows a dominant pattern of inheritance, and children of people with this condition have a 50% chance of developing it themselves, as they need only inherit one copy of the defective 17th chromosome involved. This condition is not curable, but treatments are available to manage symptoms and make patients feel more comfortable. People may also know this genetic disorder by the name “von Rechlinghausen disease,” referencing the first researcher to document and describe it.

In patients with neurofibromatosis type 1, a number of distinctive pale brown discolorations known as cafe au lait spots occur on the skin, along with freckles. These increase in number with age. In cases where someone has no family history of this disease, but has more than five such spots, a doctor may suspect neurofibromatosis type 1 and could recommend diagnostic testing. In addition to the skin changes, patients have benign tumors on their nerves. Nodules can also appear inside the iris of the eye, although they will not impair the patient's vision.

While these tumors will not spread to other areas of the body, they can cause impairments. They may damage the nerves, put pressure on surrounding structures, or deform the bones. Patients with neurofibromatosis type 1 have an increased risk of scoliosis. They are also more likely to experience cancers, like leukemia, and can develop high blood pressure. Severity and the precise mix of symptoms can vary. In patients who experience this as a spontaneous genetic mutation, neither parent will have the disease.

Treatment focuses on addressing the symptoms. Surgery is available to treat tumors and patients can wear braces for scoliosis. The patient may also undergo routine screening to catch cancers and other health problems early, and can use some lifestyle modifications to address obvious risk factors for things like high blood pressure with the goal of reducing the chances of developing secondary complications. A patient with neurofibromatosis type 1 may need mobility aids and other assistive devices, depending on how severe the disease is and how it affects the patient's body.

People with this disease usually do not have fertility problems as a result, although they may experience unrelated fertility issues. There are usually no reasons they cannot have children. A genetic counselor can offer advice and assistance with making decisions about reproduction, as parents may have concerns about passing genetic disease on to their children and future generations.