Mari Skystad Kvernebo, Celene Grayson, Ioannis M Stylianou, Virginia Woloshen, Christopher Radomski, Cato Mørk, Knut Kvernebo
{"title":"Genetic Variants in the SCN9A Gene are Detected in a Minority of Erythromelalgia Patients.","authors":"Mari Skystad Kvernebo, Celene Grayson, Ioannis M Stylianou, Virginia Woloshen, Christopher Radomski, Cato Mørk, Knut Kvernebo","doi":"10.2340/actadv.v105.42022","DOIUrl":"https://doi.org/10.2340/actadv.v105.42022","url":null,"abstract":"<p><p>Gain-of-function variants in the voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, have previously been identified in patients with erythromelalgia, a clinical diagnosis defined by intermittent attacks of painful, hot, swollen, and red skin, predominantly involving the hands and feet. Symptoms are induced or aggravated by warming and relieved by cooling. In primary erythromelalgia there is no known underlying disease. This study investigated the frequency of SCN9A variants in a cohort of primary erythromelalgia patients collected at a single centre, and examined the clinical signs and symptoms associated with identified variants. One hundred patients with possible erythromelalgia were collected prospectively and evaluated by clinical examination. Thirty-five patients fulfilling the clinical criteria of primary erythromelalgia were screened for variants in SCN9A. Five were found to carry likely causal variants, including a variant found in 2 related individuals and a variant not previously described in patients with erythromelalgia. The clinical findings differed significantly between the patients. Overall, in this cohort only 4/34 (11.7%) of unrelated patients had erythromelalgia likely caused by gain-of-function variants in SCN9A. Variants in SCN9A are therefore likely to cause or contribute to primary erythromelalgia in only a small proportion of patients.</p>","PeriodicalId":6944,"journal":{"name":"Acta dermato-venereologica","volume":"105 ","pages":"adv42022"},"PeriodicalIF":3.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143027671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Grigorios Theodosiou, Therese Sterner, Ayako Hiyoshi, Michael Carlberg, Åke Svensson, Scott Montgomery, Laura Von Kobyletzki
{"title":"Associations of Atopic Dermatitis in Late Adolescence with Occupation, Mental Health, Income from Work and Marital Status: A National Longitudinal Study.","authors":"Grigorios Theodosiou, Therese Sterner, Ayako Hiyoshi, Michael Carlberg, Åke Svensson, Scott Montgomery, Laura Von Kobyletzki","doi":"10.2340/actadv.v105.42127","DOIUrl":"10.2340/actadv.v105.42127","url":null,"abstract":"<p><p>The main aim of this study was to evaluate longitudinal associations between atopic dermatitis (AD) in late adolescence and occupational socioeconomic group, labour market participation, income from work, and marital status later in adult life. Using Swedish population-based registry data a total of 205,394 men were included, born between 1952 and 1956 in Sweden and who underwent military conscription examination including assessment of atopic dermatitis (AD) and AD severity. The associations between AD and AD severity in late adolescence and labour market participation, income from work, marital status, and medication for anxiety and depression later in adult life were examined. In this study, men with AD in adolescence, especially those with severe AD, more often had a prescription for antidepressants or anxiolytics at the age of 50-57 years (unadjusted HR 1.55, 95% CI 1.32-1.81). Interestingly, despite increased risk of poorer mental health, AD was not found to be associated with a disadvantage in terms of occupational socioeconomic group, income from work, and unemployment benefits. Individuals with mild AD showed a lower risk of holding routine and lower technical jobs compared with men without AD. Persons with AD in late adolescence seem not to differ regarding registered partnerships and marital status compared with those without AD.</p>","PeriodicalId":6944,"journal":{"name":"Acta dermato-venereologica","volume":"105 ","pages":"adv42127"},"PeriodicalIF":3.5,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142982486","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}
Eléna Prospero, Marie Jouandet, Jean-Marc Chevallier, Anne Dompmartin, Jean-Matthieu L'Orphelin
{"title":"Paget's Disease of the Male Breast: A Diagnostic Challenge.","authors":"Eléna Prospero, Marie Jouandet, Jean-Marc Chevallier, Anne Dompmartin, Jean-Matthieu L'Orphelin","doi":"10.2340/actadv.v105.42233","DOIUrl":"10.2340/actadv.v105.42233","url":null,"abstract":"","PeriodicalId":6944,"journal":{"name":"Acta dermato-venereologica","volume":"105 ","pages":"adv42233"},"PeriodicalIF":3.5,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748173/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142982141","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":"Palbociclib-induced Toxic Epidermal Necrolysis: A Case Report with Review of All Cases Secondary to Cyclin-dependent Kinase 4/6 Inhibitors.","authors":"Aurore Devoldere, Clélia Vanhaecke, Pauline Soibinet, Brahim Azzouz, Manuelle Viguier","doi":"10.2340/actadv.v105.42291","DOIUrl":"10.2340/actadv.v105.42291","url":null,"abstract":"","PeriodicalId":6944,"journal":{"name":"Acta dermato-venereologica","volume":"105 ","pages":"adv42291"},"PeriodicalIF":3.5,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748170/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142982147","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}
Simon Lergenmuller, Corina S Rueegg, Reza Ghiasvand, Marit B Veierød
{"title":"Sunscreen Use and Cutaneous Squamous Cell Carcinoma Risk: A Review of the Evidence.","authors":"Simon Lergenmuller, Corina S Rueegg, Reza Ghiasvand, Marit B Veierød","doi":"10.2340/actadv.v105.42550","DOIUrl":"10.2340/actadv.v105.42550","url":null,"abstract":"","PeriodicalId":6944,"journal":{"name":"Acta dermato-venereologica","volume":"105 ","pages":"adv42550"},"PeriodicalIF":3.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11744707/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142942433","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}
Yuki M F Andersen, Katrine Karmisholt, Trine Høgsberg, Mia-Louise Nielsen, Amanda Brosbøl, Sascha Stave, Louise Schøsler, Silje Omland, Christine Aarenstrup Daugaard, Martin Glud
{"title":"10 Years of Mohs Micrographic Surgery in Denmark: Results from a Nationwide Cohort.","authors":"Yuki M F Andersen, Katrine Karmisholt, Trine Høgsberg, Mia-Louise Nielsen, Amanda Brosbøl, Sascha Stave, Louise Schøsler, Silje Omland, Christine Aarenstrup Daugaard, Martin Glud","doi":"10.2340/actadv.v105.41118","DOIUrl":"10.2340/actadv.v105.41118","url":null,"abstract":"<p><p>Basal cell carcinoma is the most common skin malignancy and constitutes a burden for patients and society. Mohs micrographic surgery is a recommended treatment for high-risk basal cell carcinoma, but long-term outcomes of Mohs micrographic surgery in Denmark are unknown. This study aimed to estimate the 5-year recurrence rate of basal cell carcinoma following Mohs micrographic surgery, and to investigate patient and procedure characteristics since the introduction of the procedure in Denmark. The Danish Registry for Mohs Surgery was established and all Mohs micrographic surgery cases nationwide from January 2012 to December 2022 were included. A total of 1,774 patients were included in the cohort, and 2,203 high-risk basal cell carcinomas were treated using Mohs micrographic surgery techniques. The overall 5-year recurrence of basal cell carcinoma following Mohs micrographic surgery was 3.8% (95% CI 2.8-5.0), 3.1% (95% CI 2.1-4.7) for primary basal cell carcinomas, and 5.3% (95% CI 3.6-7.8) for recurrent basal cell carcinomas. The primary basal cell carcinomas showed a tendency towards lower recurrence rates and better surgical outcomes than recurrent basal cell carcinomas, although not significantly. The recurrence rate estimates correspond to international levels, supporting Mohs micrographic surgery as a treatment option for high-risk basal cell carcinomas in Danish dermatological practice. The newly established patient registry serves as a cohort for future research in this field.</p>","PeriodicalId":6944,"journal":{"name":"Acta dermato-venereologica","volume":"105 ","pages":"adv41118"},"PeriodicalIF":3.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11744706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142942411","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}