Physical Manifestations Associated with Neurofibromatosis (NF-1)
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Authors
Rivera, Luis
Terfera, David R.
Perrault, Terence
Kelliher, Kevin R.
Issue Date
2016-04-01
Type
Presentation
Language
en_US
Keywords
NF-1 mutation , Neurofibromatosis
Alternative Title
Abstract
Neurofibromatosis (NF-1), know as Von Recklinghausen's disease, is one of the most common genetic disorders, affecting about 1 in 3,500 people. Inherited in an autosomal dominant fashion, this disorder results in lesions of the nervous, visual and integumentary system that are highly variable in their level of severity. NF-1 is caused by a mutation of a gene located on chromosome 17 which encodes the protein neurofibromin, a negative regulator of cell signaling pathways for the control of cellular division. Thusly, the NF gene is referred to as a tumor suppressing gene and mutations result in mostly benign tumorous growths and more rarely malignancies. NF-1 phenotypically presents itself with a variety of characteristic manifestations. While these manifestations are highly disfiguring they are generally painless and very rarely become life threatening. In addition to the neurofibromas of the central and peripheral nervous system, NF-1 may affect any part of the body resulting in a variety of complications. In this case study, we present the results of a cadaveric dissection of a donor with NF-1 to catalog the most common manifestations of this disease.