Retrospective evaluation of clinical and demographic characteristics of neurofibromatosis TYPE 1

Ahmadi Sheykhsarmast V. Retrospective evaluation of clinical and demographic features in Neurofibromatosis type 1 patients. Hacettepe University Faculty Of Medicine, Department of Skin and Venereal Diseases, Master's Thesis. Ankara, 2018. Neurofibromatosis type 1 is an autosomal dominantly inherited, whose clinical features are well-established in the literature. However, there is quite scarce study regarding to its epidemiologic data. In this study, besides NF-1 disease's demographic and clinical characteristics; it has been aimed to obtain patients' vitamin D levels/body-mass indexes. Our study is retrospectively designed and a total of 128 NF1 patients are chosen (F:69, M:59). The mean age of included patients is 14,02 ± 11,30. In our study, cafe au lait spots are determined to be the most common skin manifestation (%99,2). Freckles are the second most common skin finding (%93,8) and usually prominent in axillary and inguinal areas of body. Female patients tend to have more freckles compared to male ones (p=0,024). %82,9 of patients are determined to have vitamin D deficiency (<30 μ/L). Neurofibroma incidence is higher in the ones with lower vitamin D levels (p<0,001). Even though, a reverse relationship between vitamin D levels and number of neurofibromas are found, it is not statistically significant. (p>0,05). Nevus anemicus is shown to be one of the most frequently seen skin manifestations and recently it is being considered to be a new diagnostic criteria for NF. In addition, a statistically significant difference is found between nevus anemicus and vitamin D levels(p=0,001) and the frequency of nevus anemicus is increased in the ones with lower vitamin D levels. A lower body-mass index is established in patients with NF1; so nutritional supplementation/care is strongly suggested for NF1 patients. Being a retrospective study and not having a control grup can be considered as our study's limitations. Therefore, here we emphasize the importance of future prospective case-control studies related to demographic and clinical characteristics of NF1 patients whose prevalance is quite high in Turkey. Key Word: Neurofibromatosis type 1, Demographics, Clinical Features, Vitamin D