Von Recklinghausen Disease (Neurofibromatosis 1)

4/20/2014
Von Recklinghausen Disease (Neurofibromatosis 1)
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Von Recklinghausen Disease

(Neurofibromatosis 1)
Adv ertisement
Written by Lydia Krause | Published on July 20, 2012

Medically Reviewed by Brenda B. Spriggs, MD, MPH, FACP
Overview Cause
Symptoms
Diagnosis
Treatment
Outlook
Genetic counseling
What Is Von Recklinghausens Disease?

Von Recklinghausens 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.
Adv ertisement
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.
What Causes Von Recklinghausens Disease?

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.
Symptoms of Von Recklinghausens Disease

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:
caf-au-lait macules (CALMS)tan spots in different sizes and shapes in multiple
locations on the skin
axillary and/or inguinal frecklingfreckles under the arms or in the groin area;
observed in about 90 percent of patients
http://www.healthline.com/health/neurofibromatosis-1
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neurofibromastumors around or on peripheral nerves

plexiform neurofibromastumors affecting nerve bundles
Other symptoms of VR include:

Lisch nodulesgrowths affecting the iris of the eyes
pheochromocytomatumor of the adrenal gland (10 percent are cancerous)
liver enlargement
glioma of the optic nervetumors on the optic nerve
Bone involvement from VR includes short stature, deformities of bones and scoliosis
(abnormal curvature) of the spine.
Diagnosis of Von Recklinghausens Disease

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:
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
Tests to check for the presence of cancer include:

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
Doctors may look for neurofibromas inside the body using:

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.
How Is Von Recklinghausens Disease Treated?

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:
evaluation for learning disabilities
evaluation for attention-deficit hyperactivity disorder (ADHD)
orthopedic evaluation to treat scoliosis or other treatable bone deformities
Treatment for all patients includes:

yearly neurological exams
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yearly eye exams
Tumors can be treated by several methods, including:

laparoscopic removal of cancerous tumors
surgery for removal of tumors affecting the nerves
radiation therapy
chemotherapy
plastic surgery for disfigurement
What Is the Long-Term Outlook for Von Recklinghausens

Disease?
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 Recklinghausens 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.
Genetic Counseling
Von Recklinghausens 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.
Recom m end
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Article Sources:
Ferner, R. E., Huson, S. M., Thomas, N., Moss, C., Willshaw , H., Evans, D. G.,
Kirby, A. (2007). Guidelines for the diagnosis and management of individuals
w ith neurofibromatosis 1. Journal of Medical Genetics, 44(2), 81-88. Retrieved
July 30, 2012, from
http://jmg.bmj.com/content/44/2/81.full%3Fgrp%3D1%26citedby%3Dyes%26legid%3Djmedgenet%3B44/2/81
Gerber, P. A., Antal, A. S., Neumann, N. J., Homey, B., Matuschek, C., Pieper, M.,
Blke, E. (2009, March 17). Neurofibromatosis. European Journal of Medical
Research, 14(3), 102-105. Retrieved July 30, 2012, from
http://w w w .eurjmedres.com/content/pdf/2047-783X-14-3-102.pdf
Marshall, D. (1953). Glioma of the optic nerve as manifestation of von
Recklinghausens disease. Transactions of the American Ophthalmological
Society, 51, 117-155. Retrieved July 30, 2012, from
http://w w w .ncbi.nlm.nih.gov/pmc/articles/PMC1312558/
Neurofibromatosis. American Academy of Orthopedic Surgery. Retrieved
September 5, 2012, from http://orthoinfo.aaos.org/topic.cfm?topic=A00050
http://orthoinfo.aaos.org/topic.cfm?topic=A00050
What is Neurofibromatosis? Neurofibromatosis Fact Sheet. National Institute of
Neurological Disorders and Stroke. Retrieved September 5, 2012, from
http://w w w .ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm#
What_is
Zografos, G. N., Vasiliadis, G. K., Zagouri, F., Aggeli, C., Korkolis, D., Vogiaki, S.,
Piaditis, G. (2010, March 10). Pheochromocytoma associated w ith
neurofibromatosis type 1: Concepts and current trends. World Journal of
Surgical Oncology, 8, 14. Retrieved July 30, 2012, from
http://w w w .ncbi.nlm.nih.gov/pmc/articles/PMC2848134/
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