Hend M Al-Atif, Abdulrhman Mohammed Alqarni, Abdularhman Abdullah Almuntashiri, Ali Saad Almuntashiri, Maram Ahmed Almarhabi
{"title":"Satisfaction Among Recipients of Cosmetic Facial Filling Procedures at Dermatology Clinics in Saudi Arabia: A National Study.","authors":"Hend M Al-Atif, Abdulrhman Mohammed Alqarni, Abdularhman Abdullah Almuntashiri, Ali Saad Almuntashiri, Maram Ahmed Almarhabi","doi":"10.2147/CCID.S470437","DOIUrl":"10.2147/CCID.S470437","url":null,"abstract":"<p><strong>Purpose: </strong>Facial cosmetic procedures, known for their rising popularity, frequently yield high patient satisfaction. However, certain patient characteristics may influence this satisfaction. Additionally, patients' satisfaction can affect their attitudes and preferences toward these procedures and recommendations to others. Our study aimed to assess post-procedure satisfaction among individuals who have undergone cosmetic facial filling procedures at dermatology clinics.</p><p><strong>Patients and methods: </strong>This cross-sectional study targeted the Saudi population who had undergone cosmetic facial filling procedures, excluding individuals under 18, those with a history of mental health disorders, or invasive surgical procedures, as well as those unable or unwilling to provide informed consent. Data were collected using a comprehensive questionnaire covering demographics, procedure details, satisfaction, and future plans. A 5-point Likert scale was used to assess self-perception and satisfaction. The questionnaire was developed after expert consultation and a literature review, with overall satisfaction calculated as the mean of all items.</p><p><strong>Results: </strong>In this study of 408 participants in Saudi Arabia, predominantly young, unmarried females, high satisfaction levels were observed following cosmetic facial filling procedures, with a mean score of 3.9 for procedure results and 3.8 for meeting expectations. Most participants were Saudi nationals (97.8%), aged below 25 (41.7%), and held Bachelor's degrees (80.6%), with a majority being females (87.7%). Notably, factors significantly affecting overall satisfaction included gender (p = 0.001), marital status (p = 0.023), income (p = 0.031), procedure duration (p = 0.003), and procedure type (p = 0.046). These findings offer crucial insights for enhancing patient experiences and outcomes in cosmetic facial filling procedures.</p><p><strong>Conclusion: </strong>This study unveiled substantial self-satisfaction levels, particularly regarding appearance and social well-being, emphasizing the significance of informative pre-procedure guidance, while gender, marital status, income, procedure duration, and type significantly impacted satisfaction. Healthcare providers must heed these factors to enhance patient contentment and overall procedure success.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11539680/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Sustained Repigmentation in Vitiligo and Leukodermas Using Melanocyte-Keratinocyte Transplantation: 7 Years of Data.","authors":"Nuttaporn Nuntawisuttiwong, Punyanut Yothachai, Teerapat Paringkarn, Chayada Chaiyabutr, Chanisada Wongpraparut, Narumol Silpa-Archa","doi":"10.2147/CCID.S485421","DOIUrl":"10.2147/CCID.S485421","url":null,"abstract":"<p><strong>Background: </strong>The autologous non-cultured melanocyte-keratinocyte transplantation procedure (MKTP) has emerged as an effective treatment for various types of vitiligo and leukodermas. However, there is limited data on the long-term outcomes of the MKTP, especially in Thai patients.</p><p><strong>Objective: </strong>To assess the long-term efficacy and safety of the MKTP in patients with vitiligo and other leukodermas.</p><p><strong>Methods: </strong>This retrospective observational study analyzed data from 23 patients who underwent the MKTP for vitiligo and other leukodermas at the Siriraj MKTP Clinic, Thailand, and had a follow-up period exceeding 12 months. Clinical characteristics and MKTP specifics were evaluated. Repigmentation outcomes were assessed using the Vitiligo Area Scoring Index (VASI).</p><p><strong>Results: </strong>Of the 23 patients (24 treated lesions), 78.3% had segmental vitiligo, while the others had nevus depigmentosus, nonsegmental vitiligo, or piebaldism. Most lesions (70.8%) were located on the face. At the 12-month follow-up, repigmentation showed an 80.8% ± 19.3% VASI improvement, which was sustained over 84 months with an 80%-90% VASI improvement. There was no statistically significant difference in repigmentation outcomes between facial and non-facial lesions.</p><p><strong>Conclusion: </strong>The MKTP demonstrated long-term efficacy and safety in treating vitiligo and other leukodermas, with sustained repigmentation over 84 months. These findings support the use of the MKTP as an effective treatment option for patients with refractory vitiligo and leukodermas, particularly within Thai populations.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11539787/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Anne-Cécile Ezanno, Anne-Claire Fougerousse, Christelle Pruvost-Balland, François Maccari, Charlotte Fite
{"title":"AI in Hidradenitis Suppurativa: Expert Evaluation of Patient-Facing Information.","authors":"Anne-Cécile Ezanno, Anne-Claire Fougerousse, Christelle Pruvost-Balland, François Maccari, Charlotte Fite","doi":"10.2147/CCID.S478309","DOIUrl":"10.2147/CCID.S478309","url":null,"abstract":"<p><strong>Purpose: </strong>This study investigates the accuracy of Artificial Intelligence (AI) chatbots, ChatGPT and Bard, in providing information on Hidradenitis Suppurativa (HS), aiming to explore their potential in assisting HS patients by offering insights into symptoms, thus possibly reducing the diagnostic and treatment time gap.</p><p><strong>Patients and methods: </strong>Using questions formulated with the help of HS patient associations, both ChatGPT and Bard were assessed. Responses to these questions were evaluated by 18 hS experts.</p><p><strong>Results: </strong>ChatGPT's responses were considered accurate in 86% of cases, significantly outperforming Bard, which only achieved 14% accuracy. Despite the general efficacy of ChatGPT in providing relevant information across a range of HS-related queries, both AI systems showed limitations in offering adequate advice on treatments. The study identifies a significant difference in the performance of the two AIs, emphasizing the need for improvement in AI-driven medical advice, particularly regarding treatment options.</p><p><strong>Conclusion: </strong>The study highlights the potential of AI chatbots, particularly ChatGPT, in supporting HS patients by improving symptom understanding and potentially reducing the time to diagnosis and treatment. AI chatbots, while promising, cannot yet substitute for professional medical diagnosis and treatment, indicating the importance of enhancing AI capabilities for more accurate and reliable medical information dissemination.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11539865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Multicomorbidity in Psoriasis Vulgaris: A Retrospective Analysis.","authors":"Bilge Fettahlioglu Karaman, Irem Ayse Salkin Cinki, Varol Lutfu Aksungur","doi":"10.2147/CCID.S485453","DOIUrl":"10.2147/CCID.S485453","url":null,"abstract":"<p><strong>Background: </strong>The frequencies of comorbidities in patients with psoriasis have been compared to that in the general population in many studies. Moreover, several studies have investigated the risk factors influencing the number of comorbidities in patients with psoriasis. However, a few studies have examined clusters of patients with psoriasis according to their comorbidities. In this study, we aimed to explore the multicomorbidities of psoriasis vulgaris in terms of risk factors and clusters.</p><p><strong>Methods: </strong>All diagnoses of 452 patients with psoriasis vulgaris were extracted from electronic medical records of a tertiary hospital. Binary association coefficients were calculated for all pairs of comorbidities. Subsequently, a hierarchical cluster analysis was performed.</p><p><strong>Results: </strong>Among the patients, 30.5% had no comorbidities, 28.8% had a single comorbidity, and 40.7% had multiple comorbidities. The number of comorbidities was positively associated with age and follow-up duration but not with sex. The most striking cluster of comorbidities was composed of diabetes, hepatosteatosis, hyperlipidemia, hypertension, cancer, and cardiovascular disease.</p><p><strong>Conclusion: </strong>This cluster could be explained by cardiometabolic multimorbidity. Exploring such clusters may provide a more forward-looking perspective for the management of psoriasis patients.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Skin Barrier Parameters in Acne Vulgaris versus Normal Controls: A Cross-Sectional Analytic Study.","authors":"Siriorn Sukanjanapong, Monthanat Ploydaeng, Penpun Wattanakrai","doi":"10.2147/CCID.S476004","DOIUrl":"10.2147/CCID.S476004","url":null,"abstract":"<p><strong>Aim: </strong>Data of objective skin barrier parameters in acne patients with and without therapy compared with normal controls are limited. This information could provide more insight into the pathogenesis of acne vulgaris and optimal acne treatment.</p><p><strong>Purpose: </strong>To measure and compare skin barrier parameters in a large cohort of acne patients with and without therapy compared with normal controls.</p><p><strong>Methods: </strong>This cross-sectional analytic study was conducted on healthy Thai volunteers. After completing a questionnaire on their general information and skincare routine, volunteers received a full skin examination and were divided into subjects with and without acne. Skin barrier parameters, including the transepidermal water loss (TEWL), skin hydration and sebum production were measured and compared between the two groups. Factors that may affect each parameter were analysed and adjusted for in a multivariate regression analysis. In addition, data from acne patients with and without treatment were evaluated.</p><p><strong>Results: </strong>The study included 316 volunteers (164 acne patients, 152 controls), mostly female (79% acne, 78% controls). The mean age of the acne group was considerably lower than that of the control group (34 vs 48.6 years (p < 0.001)). Acne patients showed significantly higher TEWL (13.16 vs 10.63 g/m²/day, p < 0.001), sebum production (median 3 vs 0 A.U, p = 0.002), and skin hydration (244.60 vs 222.60 uS, p = 0.001). These differences remained significant after adjusting for confounding factors. Additionally, significant differences were observed between controls, acne. Patients receiving and not receiving acne medications. The highest TEWL was observed in acne patients receiving treatment, followed by untreated acne patients and normal controls (p = 0.0003). Skin hydration exhibited a comparable pattern (p = 0.03).</p><p><strong>Conclusion: </strong>There were significantly higher TEWL, sebum production and hydration in acne patients. Acne treatment further impaired the skin barrier. These findings support the possible benefits of moisturisers with barrier-enhancing properties in patients receiving acne medications.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Xiong Lv, Chun Xiang, Yan Zheng, Wan-Xuan Zhou, Xu-Ling Lv
{"title":"Recent Developments in Using Microneedle Patch Technology as a More Efficient Drug Delivery System for Treating Skin Photoaging.","authors":"Xiong Lv, Chun Xiang, Yan Zheng, Wan-Xuan Zhou, Xu-Ling Lv","doi":"10.2147/CCID.S492774","DOIUrl":"10.2147/CCID.S492774","url":null,"abstract":"<p><p>Skin photoaging, resulting from prolonged exposure to ultraviolet (UV) radiation, is characterized by intricate biological changes involving oxidative damage and structural alterations. Despite an increasing demand for effective interventions, the current therapeutic options for treating skin photoaging are limited. We discovered through literature data search on PubMed that recent research has shifted its focus to the application of microneedle patches as an innovative approach to address this concern. Microneedle patches, serving as a novel transdermal delivery system, exhibit the potential to deliver bioactive substances such as cytokines, cellular vesicles, gene fragments and even alive algae to mitigate the effects of skin photoaging. This review aims to provide a comprehensive overview of recent advancements in research about utilizing microneedle patches for the treatment of skin photoaging and potential future directions in leveraging microneedle patches as clinical therapeutic agents for skin rejuvenation. Ultimately, we believe that microneedle patches have a broader application prospect in the fields of medical cosmetology and anti-photoaging.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11533892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142575426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"D-Penicillamine-Induced Stevens-Johnson Syndrome in a Patient with Gold Cyanide Intoxication: A Case Report.","authors":"Tanaporn Anuntrangsee, Kumutnart Chanprapaph, Wimolsiri Iamsumang","doi":"10.2147/CCID.S489028","DOIUrl":"10.2147/CCID.S489028","url":null,"abstract":"<p><p>D-penicillamine is used as the mainstay of chelation therapy for Wilson's disease and for heavy metal intoxication. D-penicillamine itself has been noted to cause several systemic side effects as well as symptoms related to the skin. Common cutaneous side effects such as acute hypersensitivity reactions, elastic fiber abnormalities, and bullous diseases have been occasionally described. Herein, we report a case of a 23-year-old Thai female with gold intoxication who developed Stevens-Johnson syndrome (SJS) following the treatment of D-penicillamine. To our knowledge, D-penicillamine-induced SJS is exceptionally rare. To raise awareness of potentially fatal cutaneous adverse drug reaction triggered by D-penicillamine, published literature regarding SJS induced by this agent has also been reviewed. D-penicillamine should be regarded as a possible culprit in patients presenting with SJS following D-penicillamine administration and should be promptly discontinued.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11529279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Future Directions About Keloid Scars Based on Pathogenesis and Therapies.","authors":"Guiyun Zhang, Zhe Liu, Zhen Li, Yangchun Xu","doi":"10.2147/CCID.S470650","DOIUrl":"https://doi.org/10.2147/CCID.S470650","url":null,"abstract":"<p><p>Keloids are pathologic scars that pose a significant functional and cosmetic burden. While the literature on keloid management continues to expand, the absence of standardized guidelines or treatment protocols endorsed by academic governing bodies remains a significant challenge. The pathogenesis of keloid scars is not fully elucidated. This review delves into the intricate pathogenesis of keloids, exploring the molecular and cellular mechanisms underlying their formation. Conventional therapies are analyzed in-depth considering their efficacy and limitations, including surgical excision, pharmacotherapies, radiotherapy, cryotherapy, silicone-based product, pressure therapy, and light-based therapy. The emergence of novel therapeutic approaches is discussed, including pharmacotherapies, physical therapies, and biological therapies, shedding light on their potential in treating keloid scars. We also contemplate future directions in the field, encompassing the application of targeted therapies, gene-editing tools, tissue engineering, and regenerative medicine, together with psychosocial support and patient education. In synthesizing current knowledge, scrutinizing therapeutic modalities, and envisioning future avenues, this review aims to provide a comprehensive reference for clinicians, researchers, and stakeholders engaged in the intricate field of keloid management.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520916/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142544127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jungsang Kim, Ju-Hyun Lee, Dongbin Jeong, Taekyung Lim, Sangwoo Jung, Kwongil Paeng, Sangyoup Lee, Hyunki Cho, Seungyoup Lee, Ikdu Kim, Byungsoo Kang, Jae Hyo Kim, Hongmin Chu, Museok Hong
{"title":"Korean Medicine Subcision Therapies in Scar Treatment: A Retrospective, Multicenter Study at Network Clinics.","authors":"Jungsang Kim, Ju-Hyun Lee, Dongbin Jeong, Taekyung Lim, Sangwoo Jung, Kwongil Paeng, Sangyoup Lee, Hyunki Cho, Seungyoup Lee, Ikdu Kim, Byungsoo Kang, Jae Hyo Kim, Hongmin Chu, Museok Hong","doi":"10.2147/CCID.S470014","DOIUrl":"https://doi.org/10.2147/CCID.S470014","url":null,"abstract":"<p><strong>Purpose: </strong>This study is a retrospective, multicenter research designed to report the efficacy of Korean medicine subcision therapies in scar treatment.</p><p><strong>Patients and methods: </strong>Charts and photographs of 29 patients who received subcision treatment between May 2016 and June 2020 in four scar treatment network clinics were analyzed. The Qualitative Global Acne Scarring Grade System (QGASC) and the Stony Brook Scar Evaluation Scale (SBSES) were used to objectively measure scar scores.</p><p><strong>Results: </strong>Except for 4 patients whose GASGS and SBSES scores remained unchanged, most patients' scars showed improvement from Visit 2 to about Visit 8. Furthermore, the degree of change for both scales was found to be statistically significant.</p><p><strong>Conclusion: </strong>Subcision therapy using acupuncture has been found to be an effective treatment for scar, with statistically significant improvements in patients' SBSES and QGASC scores.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520713/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142544128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yunxia Zhu, Deng Zhang, Liang Wu, Xiaoliang Ouyang, Shengcai Zhu, Xiuping Wang, Zhen Xiao, Yanping Tan, Chunming Li
{"title":"Two Novel and Two Recurrent Variants of the ADAR1 Gene in Three Chinese Families with Dyschromatosis Symmetrica Hereditaria.","authors":"Yunxia Zhu, Deng Zhang, Liang Wu, Xiaoliang Ouyang, Shengcai Zhu, Xiuping Wang, Zhen Xiao, Yanping Tan, Chunming Li","doi":"10.2147/CCID.S477138","DOIUrl":"10.2147/CCID.S477138","url":null,"abstract":"<p><strong>Purpose: </strong>Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant inherited pigmentary dermatosis. The gene responsible for DSH has been identified as adenosine deaminase acting on RNA1 (<i>ADAR1</i>). This study aimed to identify the causative variants in the <i>ADAR1</i> gene in three Chinese families with DSH.</p><p><strong>Patients and methods: </strong>Data and blood samples were collected from three Chinese families with DSH. Whole-exome and Sanger sequencing were performed to detect pathogenic gene mutation in the patients. Bioinformatics tools were used to predict the pathogenicity of the variants.</p><p><strong>Results: </strong>Four heterozygous <i>ADAR1</i> variants were identified, including two novel missense variants c.2369G>C (Arg790Pro), and 503C>T (Pro168Leu), and two previously reported variants: c.3232C>T(R1078C), and c.1472C>G (p.S491X). The novel c.503C>T variant was predicted as \"deleterious\" (score =-2.704) by PROVEAN, and \"probably damaging\" (score = 1) by PolyPhen2. The other novel variant c.2369G>C was also predicted as \"deleterious\" (score =-4.167) by PROVEAN, \"probably damaging\" (score = 1) by PolyPhen2, and \"disease-causing\" (p = 0.999) by Mutation Taster.</p><p><strong>Conclusion: </strong>Two novel <i>ADAR1</i> variants were found in Chinese patients with DSH. This research has expanded the <i>ADAR1</i> gene database for DSH, enhancing our comprehension of the underlying mechanisms.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11514803/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142521210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}