Late-onset neurofibromatosis revealingNF1mutation
نویسندگان
چکیده
منابع مشابه
A case of late-onset segmental neurofibromatosis.
Segmental neurofibromatosis (NF5) is a rare variant of neurofibromatosis. To our knowledge, there have been few reports of cases presenting later in life. The recognition of NF5 is important, as there have been reports of paraneoplastic manifestations and transmission to offspring. Here we present the case of a patient who presented with NF5 first appearing in her mid-50s. This case illustrates...
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Abstract Background: Mustard gas, lethal in high doses, affects multiple organs such as skin, eye and respiratory system. We studied the development of late onset mustardinduced polyneuropathy among chemically wounded Iranian veterans. Methods: In this descriptive study, 100 chemically wounded Iranian veterans with severe eye involvement were examined for any signs and symptoms of polyneuropat...
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We report a family with type 2 neurofibromatosis and late onset tumours. Five members of this family have developed hearing loss late in life, two of whom have only been shown to have the diagnosis in their seventies, and three other obligate gene carriers died undiagnosed at 64, 72, and 78 years of age. A missense mutation at the C-terminal end of the NF2 protein has been identified in this fa...
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Annular pancreas is a relatively rare congenital diseasecaused by an embryologica1and anatomical disturbance in pancreas It may have no sympforns throughout the life and so occasionally discovered during an unrelevant surgery or autopsy but in most of the cases it shows itself as a duodenal obstruction during the infancy and childhood.Very rarely symptoms of the disease my be observed in adul...
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ژورنال
عنوان ژورنال: The Journal of Dermatology
سال: 2014
ISSN: 0385-2407
DOI: 10.1111/1346-8138.12729