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- $Unique_ID{BRK00045}
- $Pretitle{}
- $Title{Neurofibromatosis}
- $Subject{Neurofibromatosis genes gene nerves nerve tumor cancer cancers
- neoplasm neoplasms skin Nervous System genetically-linked disorder tumors NF-1
- NF-2 multiple neuroma neuromatosis von Recklinghausen Recklinghausen's disease
- cutaneous neurofibromas Plexiform iris growths Lisch nodules freckling skin
- folds neurological}
- $Volume{F-20, B-20}
- $Log{}
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- Copyright (c) 1991-92,1993 Tribune Media Services, Inc.
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- Neurofibromatosis
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- QUESTION: What can you tell me about neurofibromatosis?
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- ANSWER: Neurofibromatosis is a genetically-linked disorder involving tumor
- formations around various nerves. The disease can have additional widespread
- effects on many of the body's systems. Two distinct forms of the disease
- exist. The first type, NF-1, affects about one in 4,000 people and is
- characterized by tumors along peripheral nerves and cafe-au-lait spots, which
- resemble large freckles, that can appear anywhere on the body. The second
- type, NF-2, is ten times less common and involves additional tumors of the
- nervous system, as well as a possible loss of hearing.
- Other signs of the disease, occurring in both types, include small, soft,
- purplish tumors, called cutaneous neurofibromas, which can appear anywhere on
- the body. Plexiform neurofibromas, causing a thickening of a large nerve
- trunk, develop in some patients as well. In serious cases, these can cause
- overgrowth and deformity of nearby bones. Small growths on the iris, called
- Lisch nodules, freckling in skin folds such as the groin, and severe learning
- disabilities are other symptoms specific to NF-1. Thus, as anyone can see,
- the disease in either form can be quite disfiguring.
- Exact factors leading to neurofibromatosis are still unknown, but recent
- research indicates that the gene for NF-1 is located on chromosome 17 and the
- gene for NF-2 is located on chromosome 22. The specific genes responsible for
- the disease remain undetermined. Since afflicted women sometimes show their
- first signs of the disease during pregnancy, it is further believed that
- hormonal stimulation may be responsible for the growth of the neurofibromas.
- However, the specific hormones have not been identified.
- As yet, there is no primary treatment for the disease, so management is
- aimed at early detection of treatable symptoms. Afflicted people should
- receive regular physical and neurological exams and special attention should
- be given to monitoring significant changes in the size or number of
- neurofibromas. With NF-2 patients, acoustic nerve function must be monitored
- so attempts to preserve hearing can be made. In both cases, however, genetic
- counseling is of vital importance since there is a 50% chance of transmitting
- the disease to offspring.
- Though much about the disease is still a puzzle, promising efforts are
- being made to identify the gene or genes that carry the disease. Once they
- are discovered, a means for treating the disease may not be far behind.
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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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