Clinical Characterization of Familial and Sporadic Neurofibromatosis Type1
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DOI:
https://doi.org/10.53555/b.v1i2.2600Keywords:
Neurofibromatosis Type 1, Familial Neurofibromatosis, Sporadic Neurofibromatosis, Clinical Characteristics, Secondary Data AnalysisAbstract
Neurofibromatosis Type 1 (NF1) is a frequent inherited condition with a wide spectrum of clinical features that involve the skin, nervous system, eyes, and skeleton. Knowing the clinical distinctions between familial and sporadic NF1 is important to better understand how to diagnose and care for patients. The purpose of this study was to describe the clinical features of patients with NF1 and to compare the manifestations of familial and sporadic cases. A quantitative cross sectional analytical study was performed with a secondary dataset publicly available with 296 confirmed NF1 patients. Descriptive and comparative statistical analysis of demographic characteristics and clinical manifestations such as pigmentary lesions, neurofibromas, ophthalmological findings, neurological complications, skeletal abnormalities and tumor related features were performed. Results showed significant clinical variability: The most common features were café-au-lait spots followed by axillary freckling, dermal neurofibromas, and Lisch nodules. Other complications such as optic glioma, skeletal dysplasia, scoliosis, learning disability and tumor-related complications were seen with varying frequencies indicating the multisystem nature of the disorder. There was considerable insight gained from the comparative evaluation of the familial and sporadic cases as to differences in the presentation of the disease in different inheritance groups. In summary, detailed clinical evaluation and tailored monitoring of NF1 patients is emphasized. While lacking longitudinal and molecular genetic data, the results help to advance the understanding of phenotypic variability and will serve as a foundation for future multicentre studies with a combined genetic and long-term clinical data set.
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