- café-au-lait macules (CALMS)—tan spots in different sizes and shapes in multiple locations on the skin
- axillary and/or inguinal freckling—freckles under the arms or in the groin area; observed in about 90 percent of patients
- neurofibromas—tumors around or on peripheral nerves
- plexiform neurofibromas—tumors affecting nerve bundles
- Lisch nodules—growths affecting the iris of the eyes
- pheochromocytoma—tumor of the adrenal gland (10 percent are cancerous)
- liver enlargement
- glioma of the optic nerve—tumors on the optic nerve
- LEOPARD syndrome: a genetic disorder that includes brown spots on the skin along with widely spaced eyes, narrowing of the artery from the heart to the lungs, hearing loss, short stature, and abnormalities in the electrical signals that control the heartbeat
- neurocutaneous melanosis: a genetic disorder that causes pigment cell tumors in the layers of tissue that cover the brain and spinal cord
- schwannomatosis: a rare condition characterized by nerve tissue tumors thought to be a variant of type 2 neurofibromatosis (NF2)
- Watson syndrome: a genetic disorder that causes Lisch nodules, short stature, neurofibromas, an abnormally large head, and narrowing of the pulmonary artery
- laparoscopic removal of internal tumors (inside the body) for testing
- biopsy: removal of a tissue sample of skin and superficial tumors to check for the presence of cancer
- magnetic resonance imaging (MRI): a highly sensitive imaging technique using magnetic fields and radio waves
- computed tomography (CT): a cross-sectional X-ray to look for tumors in the abdomen, liver, etc.
- evaluation for learning disabilities
- evaluation for attention-deficit hyperactivity disorder (ADHD)
- orthopedic evaluation to treat scoliosis or other treatable bone deformities
- yearly neurological exams
- yearly eye exams
- laparoscopic removal of cancerous tumors
- surgery for removal of tumors affecting the nerves
- radiation therapy
- plastic surgery for disfigurement
Von Recklinghausen’s disease (VR) is a genetic disorder characterized by the growth of tumors on the nerves. The disease can also affect the skin and cause bones deformities. There are three forms of VR: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis, considered a variant of type 2.
The most common form of VR is NF1. This disease causes tumors called neurofibromas in the tissues and organs of the body. VR is one of the most common genetic disorders and affects about one in 3,500 people (Gerber, et al., 2009).
VR tumors can become cancerous and management of this disease focuses on monitoring the tumors for cancerous changes.
The cause of VR is a genetic mutation. Mutations are changes or mistakes in your genes. The genes make up your DNA, which defines every physical aspect of your body. In VR, a mutation occurs on the neurofibromin gene, causing an increase in the development of cancerous and noncancerous tumors.
While most cases of VR are caused by a genetic mutation in the neurofibromin gene, there are reports of an increasing recognition of acquired cases due to spontaneous mutations. It is estimated that in about half of all cases, the mutation appears spontaneously (Ferner, et al., 2007). This means no family member has the illness, and it is not inherited. The acquired disease can then be passed on to future generations.
VR affects the skin and the peripheral nervous system. The first symptoms are usually observed in childhood and affect the skin.
Symptoms of VR affecting the skin include:
Other symptoms of VR include:
Diagnosis is based on the presence of multiple symptoms. Other diseases that can cause tumors must be eliminated. Patients with the symptoms will be asked about a family history of the disease.
Illnesses that resemble VR include:
Tests to check for the presence of cancer include:
Doctors may look for neurofibromas inside the body using:
VR is a complex illness. Treatment must address many different systems of the body. Examinations in childhood must look for signs of abnormal development. Adults require regular screening for cancer caused by the tumors.
Treatment in childhood includes:
Treatment for all patients includes:
Tumors can be treated by several methods, including:
VR increases your risk for cancer. Tumors should be checked regularly by a doctor for changes indicating malignancy. Early diagnosis of cancer leads to a better chance for remission.
Patients with Von Recklinghausen’s disease may have large tumors on the body. These can be unsightly and embarrassing. Removal of visible tumors on the skin can help with self-esteem.
Von Recklinghausen’s is a genetic disease. If you have VR you can pass it to your children. Before having children, you should visit a genetic counselor. A genetic counselor can explain the odds of your child inheriting the disease.