Dermatology最新文献

{"title":"Correlation between PainDETECT Questionnaire and Quantitative Sensory Testing for the Detection of Neuropathic Pain in Hidradenitis Suppurativa.","authors":"Patrick J Speck, Ali Alsouhibani, Danielle E Mustin, Emily F Cole, Daniel E Harper, Lauren A V Orenstein","doi":"10.1159/000533262","DOIUrl":"10.1159/000533262","url":null,"abstract":"<p><strong>Background: </strong>Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease that is often severely painful due to nociceptive mechanisms (i.e., stimulation of cutaneous nociceptors). However, patient-reported pain character suggests that neuropathy may also drive HS pain in a subset of patients. Quantitative sensory testing (QST) can help identify neuropathic pain by testing for heightened and paradoxical pain responses in patients, but it is less feasible for routine clinical use compared with brief questionnaires. We therefore tested the suitability of a standardized neuropathic questionnaire (PainDETECT; PD-Q) for use as a surrogate clinical measure by directly comparing it with QST-identified neuropathic pain in HS.</p><p><strong>Methods: </strong>This observational, cross-sectional study included 22 adults with painful HS lesions who completed the PD-Q and underwent QST. A receiver operating characteristic curve was generated and Cohen's Kappa, sensitivity, and specificity were examined at three scoring thresholds.</p><p><strong>Results: </strong>Of the 22 participants, 14 (64%) exhibited dynamic mechanical allodynia and/or paradoxical thermal sensations in QST, which are characteristically found in neuropathic pain. According to the PD-Q, 8 participants (36%) were unlikely, 8 (36%) were possible, and 6 (27%) were likely to have neuropathic pain. A PD-Q Score indicating possible or likely neuropathic pain (i.e., ≥13) demonstrated 82% agreement with QST-determined neuropathic pain (Cohen's Kappa = 0.61 [p = 0.004]; sensitivity = 86%; specificity = 75%).</p><p><strong>Conclusion: </strong>The PD-Q demonstrates moderate agreement with QST in screening for neuropathic pain in HS and may be a helpful clinical tool.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"152-155"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9930583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature.","authors":"Julia Clabbers, Noor van van Oosten, Marieke Bolling, Maaike Vreeburg, Michel van Geel, Peter Steijlen, Antoni Gostynski","doi":"10.1159/000533934","DOIUrl":"10.1159/000533934","url":null,"abstract":"<p><strong>Background: </strong>Acitretin, a synthetic vitamin A derivative, is the most studied and widely used oral retinoid for ichthyoses. Its major disadvantage is the need for contraceptive measures during 3 years after discontinuation. An alternative is needed for women of childbearing age. With alitretinoin, another retinoid, pregnancy is considered safe 1 month after discontinuation.</p><p><strong>Objectives: </strong>The aim of this study was to provide evidence for alitretinoin as an alternative for acitretin for ichthyosis in women of childbearing age. Our experience is shared in a case series combined with an overview of the current literature.</p><p><strong>Methods: </strong>Nine women of childbearing age (19-31 years, median 21) with different subtypes of ichthyosis (autosomal recessive congenital ichthyosis, (superficial) epidermolytic ichthyosis, erythrokeratoderma variabilis, and epidermolytic epidermal nevi, a mosaic form of epidermolytic ichthyosis) were included and treated with 30 mg alitretinoin during 2-28 months. Severity was measured by Ichthyosis Area Severity Index (IASI) and Investigator Global Assessment (IGA). A literature search in Pubmed using the Mesh terms \"alitretinoin,\" \"skin diseases, genetic\" and \"ichthyosis\" was performed.</p><p><strong>Results: </strong>Significant reduction in the mean scores of IGA, IASI-erythema, IASI-scaling, and IASI-total was seen. Seven patients are still being treated, 1 patient stopped to become pregnant, 1 patient discontinued due to financial reasons. Observed side effects were reversible headache (n = 6), asteatotic eczema (n = 1), \"not feeling well\" temporarily (n = 1), and easier blistering of the feet (n = 1). The literature search resulted in six case reports and case series about alitretinoin in ichthyosis and ichthyosis syndromes with in total 29 patients. The vast majority of articles (21/29) reported significant improvement or even complete remission of skin symptoms. However, validated outcome measures to support these results were lacking. Side effects (n = 16) were relatively mild, except for benign intracranial hypertension (n = 1) and autoimmune hypothyroidism (n = 1).</p><p><strong>Conclusion: </strong>Our study shows, with validated outcome measures, that alitretinoin is effective to mitigate the symptoms of ichthyosis in women of childbearing age and a suitable alternative to acitretin.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"170-177"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10209887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations of Atopic Dermatitis with Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder: A Systematic Review and Meta-Analysis.","authors":"Yu Cheng, Jing-Wun Lu, Jen-Hung Wang, Ching-Hui Loh, Tai-Li Chen","doi":"10.1159/000533366","DOIUrl":"10.1159/000533366","url":null,"abstract":"<p><strong>Background: </strong>Atopic dermatitis (AD) shares similarities with attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) regarding pathogenesis involving neuroinflammation and genetics. Nevertheless, evidence on the associations of AD with ADHD and/or ASD is inconclusive. This study aimed to systematically examine the existing evidence on the associations between AD, ADHD, and ASD.</p><p><strong>Methods: </strong>The Meta-Analysis of Observational Studies in Epidemiology guideline was followed. We searched MEDLINE, Embase, Cochrane Library, and Web of Science databases from their respective inceptions to March 4, 2022. Observational studies providing adjusted estimates and/or prevalences for ADHD and ASD in patients with AD were enrolled. A random-effects model meta-analysis was conducted to calculate pooled odds ratios (ORs) and confidence intervals (CIs). Subgroup analyses according to AD severity, age, geographic location, and study design were performed.</p><p><strong>Results: </strong>Overall, a total of 24 studies with 71,373,639 subjects were enrolled. Our meta-analysis demonstrated significant associations of AD with ADHD (pooled OR: 1.28; 95% CI: 1.18-1.40) and ASD (pooled OR: 1.87; 95% CI: 1.30-2.68). Subgroup analyses revealed that the associations for ADHD were the most prominent in studies evaluating severe AD patients as well as in studies focusing on school-age children and adolescents. Among patients with AD, the pooled prevalence of ADHD was 6.6%, and the respective prevalence of ASD was 1.6%.</p><p><strong>Conclusion: </strong>The evidence to date suggests significant associations of AD with ADHD and ASD. Psychiatric consultation and an interdisciplinary approach would benefit patients with AD presented with behavioral symptoms suggestive of ADHD or ASD.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"13-25"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71520794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Topical Corticosteroid Phobia among Danish Pharmacy Staff.","authors":"Jakob Maarbjerg Toft-Hansen, Line Brok Nørreslet, Ida Vittrup, Jacob Pontoppidan Thyssen, Tove Agner, Yasemin Topal Yüksel","doi":"10.1159/000534766","DOIUrl":"10.1159/000534766","url":null,"abstract":"<p><strong>Introduction: </strong>Topical corticosteroid (TCS) phobia may negatively impact treatment adherence. Currently, there are few studies exploring trust and knowledge of TCS use among pharmacy staff. The objective of this work was to examine TCS knowledge and possible phobia among Danish pharmacy staff.</p><p><strong>Methods: </strong>A questionnaire, based on Topical Corticosteroid Phobia (TOPICOP©) questionnaire, was developed and rephrased to fit pharmacy staff. The questions were Likert scales and numerical rating scales (NRS) (0-10). In October/November 2021, 64 pharmacies were invited. If the pharmacies agreed to participate, a researcher visited the pharmacies and distributed the questionnaires.</p><p><strong>Results: </strong>A total of 244 pharmacy workers from 59 pharmacies participated. The majority (95.4%) responded that they were aware of side effects of TCS; however, misconceptions regarding side effects were found in up to 34% of participants. Regarding TCS use, 40% sometimes advised the patients to wait as long as possible before initiating treatment with TCS. Confidence in dispensing TCS to patients was high, with a mean of 8.45 (NRS).</p><p><strong>Conclusion: </strong>Danish pharmacy staff generally reported high confidence in TCS use. Misconceptions regarding side effects were common, and there was a tendency to giving advices on TCS treatment that may indicate low confidence in TCS. Thorough education of pharmacy staff is needed to improve the knowledge of TCS.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"581-588"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140852001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictors of Recurrence and Progression in Poorly Differentiated Cutaneous Squamous Cell Carcinomas: Insights from a Real-Life Experience.","authors":"Gabriele Roccuzzo, Giulia Orlando, Maria Rebecca Rumore, Antonio Morrone, Enrico Fruttero, Virginia Caliendo, Franco Picciotto, Alberto Sciarrillo, Pietro Quaglino, Paola Cassoni, Simone Ribero, Rebecca Senetta","doi":"10.1159/000535040","DOIUrl":"10.1159/000535040","url":null,"abstract":"<p><strong>Introduction: </strong>Surgery represents the primary treatment option for cutaneous squamous cell carcinoma (cSCC) aiming for complete tumor resection (R0). Recurrence and metastasis significantly affect survival and outcomes, and poorly differentiated (G3) cSCC is associated with a higher risk of recurrence. However, the specific clinical and histopathological features that predict recurrence and progression in G3-cSCC remain unclear.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on a series of patients with primary G3-cSCC diagnosed at the Turin University Hospital between January 2016 and January 2021. After independent histological revision, logistic regression models were used to identify clinico-pathological predictors of cutaneous recurrence, lymphnode/metastatic progression, and both types of progression.</p><p><strong>Results: </strong>Among the 161 G3-cSCC patients, 80.1% (129/161) showed no signs of local recurrence or metastatic progression, while 19.9% (32 patients) had progressed. In the univariate logistic regression, tumor clinical diameter, depth of infiltration (DOI), and lymphovascular invasion (LVI) were identified as significant predictors across the various types of progression (p &lt; 0.05). In the context of multivariate logistic regression, distinct models proved to be significant. For skin recurrence, a 3-variable model incorporating DOI (OR 1.16, 95% CI, 1.01-1.35, p = 0.050), LVI (OR 3.61, 95% CI, 1.11-11.8, p = 0.034), and desmoplasia (OR 3.45, 95% CI, 1.25-9.5, p = 0.017) was selected. Regarding lymphnode/metastatic progression, a 3-variable model combining pT2 (OR 6.10, 95% CI, 1.15-32.35, p = 0.034), pT3 (OR 14.33, 95% CI, 2.79-73.63, p = 0.001), and LVI (OR 3.86, 95% CI, 1.10-13.62, p = 0.036) was identified. Lastly, a 2-variable model for both types of progression consisted of vertical tumor thickness (OR 5.45, 95% CI, 1.11-27.32, p = 0.039) and LVI (OR 1.15, 95% CI, 1.04-1.26, p = 0.006).</p><p><strong>Conclusion: </strong>Tumor size, DOI, and LVI were significant predictors of recurrence and metastatic progression. Notably, the size of histologically defined tumor-free margins did not affect the risk of recurrence, whilst LVI emerged as a key predictor of all forms of progression. These findings provide insights into risk stratification and suggest that close monitoring and potential adjuvant therapies, such as radiation therapy, may be necessary especially for patients with lymphovascular involvement.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"329-336"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138440447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cutaneous Reactions in Pediatric Patients Treated with MEK Inhibitors: A Retrospective Single-Center Study.","authors":"Rivka Friedland, Mirit Glick, Iris Amitay-Laish, Helen Toledano","doi":"10.1159/000539374","DOIUrl":"10.1159/000539374","url":null,"abstract":"<p><strong>Introduction: </strong>Mitogen-activated extracellular signal-regulated kinase (MEK) inhibitors are in use for several indications for adults and children. Cutaneous toxicities are among the most common adverse effects. We aimed to describe the spectrum of cutaneous adverse events, its frequency, and severity in a cohort of pediatric patients.</p><p><strong>Methods: </strong>We reviewed all records of patients in our tertiary treatment center treated with MEK inhibitors between January 2016 and January 2023 for all indications.</p><p><strong>Results: </strong>Among 33 patients, 76% reported cutaneous adverse effects. The highest prevalence was in the group of patients treated with trametinib (90%), followed by the group treated with selumetinib (50%) and the group treated with a combination of trametinib and B-Raf proto-oncogene serine/threonine-protein kinase inhibitor (dabrafenib, 34%). Xerosis, dermatitis, paronychia, and hair heterochromia were most frequently reported. Severity was graded 1 or 2 for most adverse events, and 237 visits to the dermatology clinic related to these adverse events were recorded.</p><p><strong>Conclusions: </strong>Cutaneous adverse events are common in the pediatric population as in adults, but the clinical spectrum is different. Although considered mild, multiple dermatological consultations reflect the distress caused by these events. Dermatologists have a central role in the multidisciplinary care of pediatric patients receiving these agents.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"565-571"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11309057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141075534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Etanercept versus Methotrexate in the Treatment of Psoriasis and Associated Metabolic Syndrome: 12-Month Open-Label Comparative Study.","authors":"Samer A Dhaher, Jinan Q Mohammed","doi":"10.1159/000540589","DOIUrl":"10.1159/000540589","url":null,"abstract":"<p><strong>Introduction: </strong>Psoriasis is a chronic inflammatory systemic disease accompanied by systemic damage that leads to the development of multiple comorbidities including metabolic syndrome. Conventional systemic therapies for psoriasis are associated with toxicity and have a greater burden on the patients. The study aimed to assess the effectiveness of etanercept (ETN) monotherapy in comparison with methotrexate (MTX) monotherapy.</p><p><strong>Methods: </strong>In this prospective interventional comparative open-label study, 117 patients with psoriasis were randomized to 2 groups; 1 group of 42 patients; 32 (67.2%) males and 10 (23.8%) females treated with MTX, and the second group of 75 patients; 54 (72%) males and 21 (28%) females treated with ETN. Full laboratory investigations, body mass index (BMI), measurement of skin disease severity which was performed using Psoriasis Area Severity Index (PASI), and the reduction of 75% of the skin lesions (PASI 75) were calculated for all participants.</p><p><strong>Results: </strong>In the MTX group, there were no significant differences in BMI, or blood pressure after 12 weeks of the study. There is a reduction in the values of FBS, TSC, LDL, TRIG, ESR, CRP, and PASI, but this reduction was statistically not significant. Ten (23.8%) patients achieved PASI 75. In the ETN group, except for BMI, systolic and diastolic blood pressure, all other metabolic syndrome components, inflammatory markers, and PASI were decreased; the reduction was statistically significant. Sixty (80%) patients achieved PASI 75.</p><p><strong>Conclusion: </strong>Etanercept monotherapy showed greater efficacy than MTX monotherapy in the treatment of moderate to severe plaque-type psoriasis as it achieved greater reductions in PASI score and greater achievement of PASI 75 after 12 weeks. Etanercept monotherapy showed greater efficacy than MTX monotherapy in the improvement of all components of the associated metabolic syndrome except for BMI, which was increased in etanercept-treated patients.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"687-693"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Burgers, Fast Foods, and Increased Associated Risk for Atopic Dermatitis: A Cross-Sectional Study of Dietary Habits among Young Chinese Adults in Singapore/Malaysia.","authors":"Jun Jie Lim, Yi Ying Eliza Lim, Jun Yan Ng, Praneeth Malipeddi, Yu Ting Ng, Wei Yi Teo, Qi Yi Ambrose Wong, Sri Anusha Matta, Yang Yie Sio, Yi Ru Wong, Keng Foo Teh, Smyrna Moti Rawanan Shah, Kavita Reginald, Yee-How Say, Mei Hui Liu, Fook Tim Chew","doi":"10.1159/000533942","DOIUrl":"10.1159/000533942","url":null,"abstract":"<p><strong>Background: </strong>We see increasing evidence that dietary and nutrients factors play a pivotal role in allergic diseases and recent global findings suggest that dietary habits influence the pathogenesis of atopic dermatitis (AD). Frequent consumption of fast food diets is associated with AD development. Despite the rising prevalence of AD in Asia, efforts in investigating the role of dietary habits and AD in adults are still lacking.</p><p><strong>Methods: </strong>We evaluated the association between the dietary intake of 16 food types and AD manifestations using our Singapore/Malaysia Cross-sectional Genetics Epidemiology Study (SMCGES) population. Dietary habits profiles of 11,494 young Chinese adults (1,550 AD cases/2,978 non-atopic controls/6,386 atopic controls) were assessed by an investigator-administered questionnaire. AD cases were further evaluated for their chronicity (550 chronic) and severity (628 moderate-to-severe). Additionally, we derived a novel food index, Quality of Diet based on Glycaemic Index Score (QDGIS), to examine the association between dietary intake of glycaemic index (GI) and various AD phenotypes.</p><p><strong>Results: </strong>The majority of AD subjects are distributed in the good (37.1%) and moderate (36.2%) QDGIS classes. From the multivariable analyses for age and gender, a moderate QDGIS class was significantly associated with a lower odds of AD (adjusted odds ratio (AOR): 0.844; 95% confidence interval (CI): 0.719-0.991; p &lt; 0.05) and moderate-to-severe AD (AOR: 0.839; 95% CI: 0.714-0.985; p &lt; 0.05). A good QDGIS class was only significantly associated with a lower odds of chronic AD (AOR: 0.769; 95% CI: 0.606-0.976; p &lt; 0.05). Among high GI foods, frequent consumption of burgers/fast food was strongly associated with an increased risk of chronic and moderate-to-severe AD. Among low GI foods, increased intake frequencies of fruits, vegetables, and pulses decreased the odds of AD. Finally, we identified significant associations between frequent seafood, margarine, butter, and pasta consumption with an increased odds of AD despite them having little GI values.</p><p><strong>Conclusion: </strong>While genetic components are well-established in their risks associated with increased AD prevalence, there is still a lack of a focus epidemiology study associating dietary influence with AD. Based on the first allergic epidemiology study conducted here in Singapore and Malaysia, it laid the groundwork to guide potential dietary interventions from changing personal dietary habits.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"77-84"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10507726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinician's Ability to Identify Non-Melanoma Skin Cancer on 3D-Total Body Photography Sectors that Were Initially Identified during In-Person Skin Examination with Dermoscopy.","authors":"Sarah Hobelsberger, Julian Steininger, Jörg Laske, Katja Berndt, Friedegund Meier, Stefan Beissert, Frank Friedrich Gellrich","doi":"10.1159/000535031","DOIUrl":"10.1159/000535031","url":null,"abstract":"<p><strong>Introduction: </strong>Non-melanoma skin cancer (NMSC) is a cause of significant morbidity and mortality in high-risk individuals. Total body photography (TBP) is currently used to monitor melanocytic lesions in patients with high risk for melanoma. The authors examined if three-dimensional (3D)-TBP could be useful for diagnosis of NMSC.</p><p><strong>Methods: </strong>Patients (n = 129; 52 female, 77 male) with lesions suspicious for NMSC who had not yet had a biopsy underwent clinical examination followed by examination of each lesion with 3D-TBP Vectra®WB360 (Canfield Scientific, Parsippany, NJ, USA) and dermoscopy.</p><p><strong>Results: </strong>The 129 patients had a total of 182 lesions. Histological examination was performed for 158 lesions; the diagnoses included basal cell carcinoma (BCC; n = 107), squamous cell carcinoma (SCC; n = 27), in-situ SCC (n = 15). Lesions were located in the head/neck region (n = 138), trunk (n = 21), and limbs (n = 23). Of the 182 lesions examined, 12 were not visible on 3D-TBP; reasons for not being visible included location under hair and on septal of nose. Two lesions appeared only as erythema in 3D-TBP but were clearly identifiable on conventional photographs. Sensitivity of 3D-TBP was lower than that of dermoscopy for BCC (73% vs. 79%, p = 0.327), higher for SCC (81% vs. 74%, p = 0.727), and lower for in-situ SCC (0% vs. 33%, p = 125). Specificity of 3D-TBP was lower than that of dermoscopy for BCC (77% vs. 82%, 0.581), lower for SCC (75% vs. 84%, p = 0.063), and higher for in-situ SCC (97% vs. 94%, p = 0.344). Diagnostic accuracy of 3D-TBP was lower than that of dermoscopy for BCC (75% vs. 80%), lower for SCC (76% vs. 82%), and lower for in-situ SCC (88% vs. 89%). Lesion location was not associated with diagnostic confidence in dermoscopy (p = 0.152) or 3D-TBP (p = 0.353). If only lesions with high confidence were included in the calculation, diagnostic accuracy increased for BCC (n = 27; sensitivity 85%, specificity 85%, diagnostic accuracy 85%), SCC (n = 10; sensitivity 90%, specificity 80%, diagnostic accuracy 83%), and for in-situ SCC (n = 2; sensitivity 0%, specificity 100%, diagnostic accuracy 95%).</p><p><strong>Conclusion: </strong>Diagnostic accuracy appears to be slightly lower for 3D-TBP in comparison to dermoscopy. However, there is no statistically significant difference in the sensitivity and specificity of 3D-TBP and dermoscopy for NMSC. Diagnostic accuracy increases, if only lesions with high confidence are included in the calculation. Further studies are necessary to determine if 3D-TBP can improve management of NMSC.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"142-151"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71479301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare MED12L Variants Are Associated with Susceptibility to Guttate Psoriasis in the Han Chinese Population.","authors":"Kejia Wu, Wanrong Wang, Qianhui Cheng, Duncheng Xiao, Yunxiao Li, Mengyun Chen, Xiaodong Zheng","doi":"10.1159/000538805","DOIUrl":"10.1159/000538805","url":null,"abstract":"<p><strong>Introduction: </strong>According to the common disease/rare variant hypothesis, it is important to study the role of rare variants in complex diseases. The association of rare variants with psoriasis has been demonstrated, but the association between rare variants and specific clinical subtypes of psoriasis has not been investigated.</p><p><strong>Methods: </strong>Gene-based and gene-level meta-analyses were performed on data extracted from our previous study data sets (2,483 patients with guttate psoriasis and 8,292 patients with non-guttate psoriasis) for genotyping. Then, haplotype analysis was performed for rare loss-of-function variants located in MED12L, and protein function prediction was performed for MED12L. Gene-based analysis at each stage had a moderate significance threshold (p &lt; 0.05). A χ2 test was then conducted on the three potential genes, and the merged gene-based analysis was used to confirm the results. We also conducted association analysis and meta-analysis for functional variants located on the identified gene.</p><p><strong>Results: </strong>Through these gene-level analyses, we determined that MED12L is a guttate psoriasis susceptibility gene (p = 9.99 × 10-5), and the single-nucleotide polymorphism with the strongest association was rs199780529 (p_combine = 1 × 10-3, p_meta = 2 × 10-3).</p><p><strong>Conclusions: </strong>In our study, a guttate psoriasis-specific subtype-associated susceptibility gene was confirmed in a Chinese Han population. These findings contribute to a better genetic understanding of different subtypes of psoriasis.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"606-614"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}