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    Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation
    (Sciendo, 2021) Kocakap, Sayin D. B.; Gunduz, O.; Ozer, L.; Durak, M.
    Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of de novo NF1 mutations. Neurofibromatosis type 1 has an incidence rate of 1/2600-3000 individuals, making it a major public health problem. The product of the NF1 gene, the neurofibromin protein, is known to play a critical role in cellular differentiation and in tumor suppression. Due to widespread expression of neurofibromin in numerous tissues, particularly in cutaneous and nervous systems, NF1 mutations cause a wide variety of clinical symptoms, including cutaneous and ocular lesions such as cafe au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, choroidal freckling and internal tumors. In this article, we report the cases of two siblings with NF1, a 21-year-old male and his 24-year-old sister, who have the same c.5392C>T mutation on the NF1 gene (p.Gln1798 Ter). Cafe au lait macules and freckling were the prominent clinical features in both siblings. However, a plexiform neurofibroma was also observed on the left arm of the sister, which is known to carry potential risk for malignant transformation. Although the mutation was previously described once, to the best of our knowledge, no case report has been published since then.
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    The role of macrophages in the pathogenesis of mycosis fungoides
    (Wiley, 2017) Kara, D. O.; Ozsarac, K. C.; Uzar, M. K.; Bozdogan, O.; Gunduz, O.
    BackgroundMacrophages are classified into classically activated (M1) and alternatively activated (M2) macrophages. Decrease in macrophage number in tumour tissue with treatment has been reported. AimThe aim of this study was to determine whether treatment has an effect on the number of dermal M1 and M2 macrophages in patients with mycosis fungoides (MF). MethodsIn total, 21 patients (8 women, 13 men; age range 42-73 years) were included in this study. We determined markers for dermal M1 (inducible nitric oxide synthase and CD68) and M2 (markers: CD163 and CD206) macrophages using double immunohistochemistry to reduce the error rate, and then counted the cells. ResultsThe number of dermal M1 cells was significantly lower pretreatment compared with post-treatment (P < 0.01). The numbers of dermal M2 cells were also numerically decreased by treatment. These results did not change significantly after exclusion of the patients who had recurrence (n = 2). There were no statistically significant differences between groups classified by stage, lesion type or treatment outcome. ConclusionMacrophage numbers are decreased in MF after treatment of tumour tissue.
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    Warfarin induced leucoclastic vasculitis complicated with cytomegalovirus: a case report
    (Wiley-Blackwell, 2016) Baccioglu, A.; Kalpaklioglu, A. F.; Gunduz, O.
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