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- $Unique_ID{BRK00417}
- $Pretitle{}
- $Title{Von Recklinghausen's Disease Diagnosis}
- $Subject{neurofibromatosis Skin Subcutaneous Tissue Von Recklinghausen's
- Disease skin lesions nerve fiber tumors inherited genetic disorders NF
- abnormal gene Dominant mutation lesion nerves tumor}
- $Volume{L-2, L-20}
- $Log{}
-
- Copyright (c) 1991-92,1993 Tribune Media Services, Inc.
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- Von Recklinghausen's Disease Diagnosis
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- QUESTION: Although we have no history of an illness called Von
- Recklinghausen's disease in our family, it has now appeared for the first
- time. We have read that it is an inherited condition, and can't understand
- how this occurred. Could the diagnosis be wrong? Will you please help us?
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- ANSWER: Your information is essentially correct. Von Recklinghausen's
- Disease (or neurofibromatosis) is named after the doctor who first described
- it in 1882. Although there are many symptoms, the most common is the
- development of skin lesions composed of nerve and fiber tissue, which form
- into tumors. The disease is mild in most cases, and patients may live a
- normal life. It is an inherited condition and is one of the most common of
- the diseases classified as genetic disorders. About 1 baby in 3,000 born in
- the United States develops neurofibromatosis (NF) and about 100,000 Americans
- are affected by it. It is caused by a single abnormal gene, which produces
- the disease whenever it is present. It is therefore called a dominant gene,
- since it over comes the influence of the normal gene which is also present as
- one of the pair of genes that occupy the same place in the genetic makeup.
- However, this abnormal gene may have been newly formed by a process known as
- mutation, rather than inherited. About 50 percent of NF cases seem to occur
- in this fashion, and this is the probable explanation for the circumstances in
- your family. The disease produced by a newly mutated gene is in all ways
- identical to that which occurs when the gene is inherited. It will also be
- passed on in the same way, and each child of a parent with NF has a 50-50
- chance of inheriting the disease, and developing at least some of the
- characteristics of the disease. While there are no methods to prevent the
- disease, and no prenatal tests available to discover its presence in the
- unborn, there are procedures and techniques to treat its effects. You can
- obtain a wealth of information about NF from The National Neurofibromatosis
- Foundation, Inc. 141 Fifth Avenue, Suite 7S, New York, NY 10010, telephone
- (212) 460-8980.
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- The material contained here is "FOR INFORMATION ONLY" and should not replace
- the counsel and advice of your personal physician. Promptly consulting your
- doctor is the best path to a quick and successful resolution of any medical
- problem.
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