Scopus İndeksli Yayınlar Koleksiyonu
Permanent URI for this collectionhttps://hdl.handle.net/11727/4809
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Item Recurrent N209* ABHD5 Mutation In Two Unreported Families With Chanarin Dorfman Syndrome(2021) Tavian, Daniela; Durdu, Murat; Angelini, Corrado; Torre, Enza; Missaglia, Sara; 0000-0003-1247-3932; 33985321; H-9068-2019ABHD5 protein is widely involved in lipid and energy homeostasis. Mutations in the ABHD5 gene are associated with the onset of Neutral Lipid Storage Disease with Ichthyosis (NLSDI), historically known as Chanarin Dorfman Syndrome (CDS). CDS is a rare autosomal recessive lipid storage disease, characterized by non-bullous congenital ichthyosiform eritrhoderma (NCIE), hepatomegaly and liver steatosis. Myopathy, neurosensory hearing loss, cataracts, nystagmus, strabismus, and mental impairment are considered additional findings. To date, 151 CDS patients have been reported all over the world. Here we described two additional families with patients affected by CDS from Turkey. Our patients were a 42 and 22-years old men, admitted to the Hospital for congenital ichthyosis. Hepatic steatosis and myopathy were also detected in both patients. ABHD5 molecular analysis revealed the presence of N209* mutation. Our data enlarge the cohort of CDS patients and provide a revision of muscle clinical findings for this rare inborn error of neutral lipid metabolism.Item TzanckNet: a convolutional neural network to identify cells in the cytology of erosive-vesiculobullous diseases(2020) Noyan, Mehmet Alican; Durdu, Murat; Eskiocak, Ali Haydar; 0000-0002-9129-6104; 33110197Tzanck smear test is a low-cost, rapid and reliable tool which can be used for the diagnosis of many erosive-vesiculobullous, tumoral and granulomatous diseases. Currently its use is limited mainly due to lack of experience in interpretation of the smears. We developed a deep learning model, TzanckNet, that can identify cells in Tzanck smear test findings. TzanckNet was trained on a retrospective development dataset of 2260 Tzanck smear images collected between December 2006 and December 2019. The finalized model was evaluated using a prospective validation dataset of 359 Tzanck smear images collected from 15 patients during January 2020. It is designed to recognize six cell types (acantholytic cells, eosinophils, hypha, multinucleated giant cells, normal keratinocytes and tadpole cells). For 359 images and 6 cell types, TzanckNet made 2154 predictions. The accuracy was 94.3% (95% CI 93.4-95.3), the sensitivity was 83.7% (95% CI 80.3-87.0) and the specificity was 97.3% (95% CI 96.5-98.1). The area under the receiver operating characteristic curve was 0.974. Our results show that TzanckNet has the potential to lower the experience barrier needed to use this test, broadening its user base, and hence improving patient well-being.Item Reply: Application of dermoscopy in folliculotropic mycosis fungoides(2019) Errichetti, Enzo; Durdu, Murat; 0000-0003-1247-3932; 31078610; H-9068-2019Item A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings(2019) Eskiocak, Ali Haydar; Missaglia, Sara; Moro, Laura; Durdu, Murat; Tavian, Daniela; 31883530Background: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involvement is the prevalent and always observed clinical feature, consisting of a non-bullous congenital ichthyosiform erythroderma (NCIE). Moreover, a variable involvement of the liver and neuromuscular system can be also observed. In this report, we aimed to perform the clinical and genetic characterization of a patient affected by CDS with atypical dermatological findings, considering this rare inborn error of neutral lipid metabolism. Methods: Genomic DNA samples obtained from patient and his parents were used to perform the sequencing of the ABHD5 exons and their intron/exon boundaries. Bioinformatic analyses were performed to investigate the possible effect of the identified mutation on protein structure. Results: Here we present the case of a 29-year-old male patient with CDS, who, for long time, has been misdiagnosed as pityriasis rubra pilaris (PRP). He has a history of increasing hyperlipidemia; hepatomegaly associated with hepatosteatosis was also detected. ABHD5 molecular analysis revealed a novel missense mutation, the c.811G > A (p.G271R). Bioinformatic investigations showed that the variant has a deleterious effect on ABHD5 function, probably causing an incorrect folding of the mutant protein. Conclusions: These results highlihts the importance of genetic testing for ABHD5 in unresolved cases of patients presenting unusual skin lesions, that resemble PRP, associated with a history of hyperlipidemia and nonalcoholic fatty liver.Item Cytology in the Diagnosis of Dermatological Diseases: Tzanck Smear(2016) Durdu, Murat; 0000-0003-1247-3932; H-9068-2019Cytology is a simple, quick, reliable, and inexpensive diagnostic method based on the investigation of characteristic features of individual cells. In this diagnosis method, cellular materials are obtained by scraping method, slit-skin smear, touch smear or fine needle aspiration method according to the types of skin lesions. Obtained materials are immediately spread onto microscopic slide as a thin layer. Slides were stained with various cytological dyes, and examined under the light microscope. Until today, dermatological cytology has been used in the diagnosis of various erosive-vesiculobullous, pustular, granulomatous, and tumoral skin lesions. In this review article, the sampling methods for dermatological cytology were described, and the cytologic findings of skin diseases which could provide a rapid diagnosis were discussed.Item Apoptotic Bodies due to Erythema Multiforme: Cytological, Histopathological and Immunofluorescence Findings(2017) Durdu, Murat; 0000-0003-1247-3932; H-9068-2019Item Filler Reactions: Case Report and Review of the Literature(2017) Durdu, Murat; Bozca, Cansu; Kocer, Nazim Emrah; 0000-0003-1247-3932; 0000-0002-5943-9283; H-9068-2019; AAM-5436-2021A gradual increasing interest in cosmetic procedures and the implementation of these practices by non-physicians have led to the development of various complications. Some of these complications are transient, while others require severe systemic treatments, and some may be life-threatening. These complications cause depression and isolated from society. In this article, three different reactions in the light of literature data due to the application of vitamins E, which are not fillers, have been presented and reactions of filler substances and treatment approaches are reviewed.Item Majocchi's granuloma: current perspectives(2018) Durdu, Murat; Boral, Hazal; Ilkit, Macit; 0000-0003-1247-3932; 29861637; H-9068-2019Majocchi's granuloma (MG) is a rare fungal infection of the dermis that is mainly caused by dermatophytes (in >= 95% of cases); the most frequently identified cause is anthropophilic Trichophyton rubrum. In the rest of the cases, the causes are non-dermatophytic fungi such as Aspergillus species. This review aimed to provide information about the current perspectives on MG regarding its clinical characteristics, predisposing factors, laboratory diagnosis, and treatment strategies. Although the lower extremities were reported to be the most common site of infection, facial involvement has been predominant in the past 5 years. Our literature research showed that the most common predisposing factor (55%) is the use of topical steroid creams without potassium hydroxide examination during treatment of erythematous squamous dermatoses. A reliable diagnosis of MG is based on histopathological examination, including fungal culture and molecular analyses. MG should be treated not only with topical agents but also with systemic antifungal agents that are continued until the lesions are completely resolved. In systemic treatment, the most preferred drug is terbinafine, because of its efficacy, side effects, and safety.Item Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents(2018) Durdu, Murat; Missaglia, Sara; Moro, Laura; Tavian, Dainela; 0000-0003-1247-3932; 29843625; H-9068-2019Background: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most of them are from Mediterranean countries. Case presentation: In this report, we describe a consanguineous Turkish family with typical features of CDS. The parents are first cousins and are both diseased. At the age of eight, their child presented CDS with non-bullous congenital ichthyosiform erythroderma, hepatosteatosis, hepatomegaly and ectropion. Electromyographic examination is compatible with myopathy. A five-year-old cousin of the child is also affected by CDS. She was born to non-affected consanguineous parents. Mutation analysis of the ABHD5 gene revealed the previously reported mutation, N209X, which is the most frequent in Turkish patients. Lipid vacuoles, also known as Jordan's anomaly, are detectable in their leucocytes. Conclusions: To the best of our knowledge, this is the first report of a CDS family in which both parents and their child are affected by CDS. To date, the child does not present a more severe clinical phenotype compared with those of his relatives or other CDS patients of the same age. These findings suggest that high levels of triacylglycerol accumulation, that may be supposed to be present in high amount inside the ooplasm, did not affect embryo development and foetal growth.Item The Role of Diagnostic Approaches to Determine the Treatment(2018) Durdu, Murat; Eskiocak, Ali Haydar; 0000-0003-1247-3932The diagnosis of dermatological diseases requires cytological, dermatoscopic, histopathological examinations, some laboratory tests, and radiology imaging in addition to clinical examination. However, these tests are quite important, not only in time of diagnosis, but also in patient follow ups and determining the therapeutic approach. In this article, the diagnostic tests are reviewed that may help to dermatologists in detecting the treatment of dermatological diseases.