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Von Recklinghausen’s disease (VRD) is a genetic disorder characterized by the growth of tumors on the nerves. The disease can also affect the skin and cause bone deformities. There are three forms of VRD:
The most common form of VRD is NF1. This disease causes tumors called neurofibromas in the tissues and organs of the body. According to the Dental Research Journal, VRD is one of the most common genetic disorders and affects about 1 in 3,000 people.
VRD tumors can become cancerous, and management of this disease focuses on monitoring the tumors for cancerous changes.
VRD affects the skin and the peripheral nervous system. The first symptoms usually appear in childhood and affect the skin.
Symptoms of VRD affecting the skin include the following:
Other signs and symptoms of VRD include the following
Bone involvement from VRD includes short stature, deformities of bones, and scoliosis, or abnormal curvature, of the spine.
The cause of VRD is a genetic mutation. Mutations are changes in your genes. The genes make up your DNA, which defines every physical aspect of your body. In VRD, a mutation occurs on the neurofibromin gene, causing an increase in the development of cancerous and noncancerous tumors.
While most cases of VRD are the result of a genetic mutation in the neurofibromin gene, there are also acquired cases due to spontaneous mutations. The Journal of Medical Genetics notes that in about half of all cases, the mutation appears spontaneously. This means no family member has the illness, and it’s not inherited. The acquired disease can then pass forward to future generations.
Diagnosis depends on the presence of multiple symptoms. Your doctor must rule out other diseases that can cause tumors. Your doctor will ask you about a family history of the disease if you have the symptoms of VRD.
Illnesses that resemble VRD include the following:
LEOPARD syndrome is a genetic disorder with symptoms that include:
Neurocutaneous melanosis is a genetic disorder that causes pigment cell tumors in the layers of tissue that cover the brain and spinal cord.
Schwannomatosis is a rare condition. It involves tumors in the nerve tissue.
Watson syndrome is a genetic disorder that causes:
To check for the presence of cancer, your doctor may need to remove the following for testing:
Your doctor may also look for neurofibromas inside your body using MRI and CT scans.
VRD is a complex illness. Treatment must address many different organ systems within the body. Childhood exams should look for signs of abnormal development. Adults require regular screening for cancer caused by the tumors.
Treatment in childhood includes:
All patients should have yearly neurological exams and yearly eye exams.
Tumors can be treated by several methods, including:
VRD increases your risk for cancer. You should have tumors checked regularly by your doctor. They will look for any changes that indicate cancer. Early diagnosis of cancer leads to a better chance for remission.
People with VRD may have large tumors on the body. Removal of visible tumors on the skin can help with self-esteem.
VRD is a genetic disease. If you have VRD, you can pass it to your children. You should visit a genetic counselor before having children. A genetic counselor can explain the odds of your child inheriting the disease.
Written by: Lydia Krause
Medically reviewed on: Dec 21, 2015: Steven Kim, MD
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