Von Recklinghausen’s disease, or neurofibromatosis, is a genetic condition that can cause tumors, blindness, and skeletal deformities. It is inherited and has no cure, but symptoms can be managed. It can be detected in utero and has three subtypes. Prognosis varies and complications can include brain tumors and loss of mobility.
Von Recklinghausen’s disease, more commonly known as neurofibromatosis, is an inherited condition caused by a 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, although the symptoms can be treated and managed in a variety of ways.
An abnormality in human chromosome 17 leads to the development of Von Recklinghausen’s disease. The condition is genetically inherited, which means parents can 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, the German pathologist Friedrich Daniel von Recklinghausen.
It is possible to detect Von Recklinghausen’s disease in utero, 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 about a 50% chance of sharing the genetic mutation. It is possible for neurofibromatosis to appear spontaneously without heredity, but this is relatively rare.
Symptoms of the condition include the appearance of soft, fleshy tumors anywhere on the body, dark hyper-pigmented skin patches called café au lait spots, or skeletal deformities such as scoliosis. Some, but not all, patients have speech problems and learning disabilities. Tumors of the iris of the eye lead to a high incidence of partial or total blindness in patients with neurofibromatosis.
Skeletal problems often develop as a result of the condition. Many patients develop bone lesions, or dimples, which can cause pain and skeletal deformities. Some undergo corrective surgery to reduce pain and improve mobility. Surgery is also used to remove many of the fleshy tumors often seen with neurofibromatosis as a way to manage the condition and prevent pain or discomfort.
There are three different subtypes of Von Recklinghausen’s disease, known as NF1, NF2, and the very rare schwanomatosis. Tests and the appearance of symptoms can help determine what type of condition is present; for example, people with NF2 may not show any point of café au lait. Additionally, NF2 symptoms can develop later in life, often during adolescence.
The prognosis for people with neurofibromatosis varies; although it is a progressive disease, symptoms may come on slowly in some cases and rapidly in others. Complications include brain tumors, high blood pressure and neurological problems. Some patients also lose mobility or have to have limbs amputated as the disease progresses.
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