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Von Recklinghausen's disease, more commonly known as neurofibromatosis, is an inherited condition caused by genetic mutation. This condition can cause a variety of medical symptoms, from non-cancerous tumors to blindness. As of the early 21st century, there is no cure for Von Recklinghausen's disease, though symptoms may be treated and managed in a variety of ways.
An abnormality in human chromosome 17 leads the the development of Von Recklinghausen's disease. The condition is inherited genetically, meaning that parents may pass the disease on to their offspring. The name of the disease comes from the first researcher to recognize and classify the condition in 1882, German pathologist Friedrich Daniel von Recklinghausen.
It is possible to detect Von Recklinghausen's disease in the womb, through advanced genetic testing. Cells can be removed from the fetus via amniocentesis, a minimally invasive fetal testing technique. If one parent has the disease, the fetus has approximately a 50% chance of sharing the genetic mutation. It is possible for neurofibromatosis to spontaneously appear without a heredity inheritance, but this is relatively rare.
Symptoms of the condition include the appearance of soft, fleshy tumors anywhere on the body, dark hyper-pigmented skin spots called cafe au lait spots, or skeletal deformations such as scoliosis. Some, but not all, patients exhibit speech problems and learning disabilities. Tumors on the iris of the eyes leads to a high incidence of partial or full blindness in patients with neurofibromatosis.
Skeletal issues frequently develop as a result of the condition. Many patients develop bone lesions, or pits, that can cause pain and skeletal deformities. Some undergo corrective surgery to help lessen pain and improve mobility. Surgery is also used to remove many of the fleshy tumors often found with neurofibromatosis as a means of managing the condition and preventing pain or discomfort.
There are three different subtypes of Von Recklinghausen's disease, known as NF1, NF2, and the very rare schwanomatosis. Testing and symptom appearance can help determine which type of the condition is present; for instance, people with NF2 may not show any cafe au lait spotting at all. In addition, NF2 symptoms may develop later in life, often during adolescence.
Prognosis for people with neurofibromatosis varies; although a progressive disease, symptoms may appear slowly in some cases and quickly in others. Complications include brain tumors, high blood pressure, and neurological problems. Some patients also lose mobility or must undergo amputation of limbs as the disease progresses.