British Journal of Dermatology最新文献

{"title":"Patidegib: a novel, promising treatment for basal cell carcinoma lesions in patients with Gorlin syndrome.","authors":"Ketty Peris","doi":"10.1093/bjd/ljae515","DOIUrl":"https://doi.org/10.1093/bjd/ljae515","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":""},"PeriodicalIF":11.0,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis.","authors":"Zijuan Wang, Jun Liu, Oded Wechsberg, Lina Liang, Catherine E Keegan, Christina Sloan-Heggen, You Mo, Yangyang Luo, Huijun Wang, Zhimiao Lin","doi":"10.1093/bjd/ljaf062","DOIUrl":"https://doi.org/10.1093/bjd/ljaf062","url":null,"abstract":"<p><strong>Background: </strong>Congenital ichthyoses comprise a group of skin scaling diseases with clinical and genetic heterogeneity. They can be subclassified into syndromic and nonsyndromic forms. Syndromic ichthyoses affect organs beyond the skin. An increasing number of causative genes has been identified.</p><p><strong>Objectives: </strong>To identify the causative gene and the underlying pathogenesis of a previously unreported syndromic ichthyosis.</p><p><strong>Methods: </strong>Whole-exome sequencing (WES), combined with Sanger sequencing, was utilized to identify the genetic defect. Protein structural modeling and dual-luciferase reporter assays were employed to investigate the effects of the pathogenic variants on KLF4. A human embryonic stem cell-H9 line (hESC-H9) harboring the pathogenic variant was developed into a skin organoid for morphological observation and RNA sequencing analysis. The expression of candidate target genes was further validated in patients' skin samples using quantitative RT-PCR and immunofluorescence.</p><p><strong>Results: </strong>We collected four unrelated sporadic patients with a syndromic ichthyosis, predominantly manifesting as ichthyosis, palmoplantar keratoderma, hypotrichosis, periorificial keratosis, nail dystrophy, and varying extracutaneous involvement. WES identified two heterozygous missense variants, c.1322A>G (p.Asp441Gly) and c.1323T>A (p.Asp441Glu), in the KLF4 gene in these patients. Protein modeling predicted that the substitutions of the affected residue, Asp441, were likely to affect the stability of the local α-helix structure. Both variants exhibited reduced transcriptional activity. Skin organoids derived from hESC-H9 cells harboring the heterozygous c.1323T>A variant displayed defects in epithelial morphogenesis and abnormal expression of keratinocyte differentiation-related genes and WNT signaling genes. Decreased expression of KLK7 and WNT10A, which are vital for skin desquamation and multi-organ development, respectively, was detected in the patients' skin lesions.</p><p><strong>Conclusions: </strong>Loss-of-function variants affecting residue Asp441 of KLF4 cause an autosomal dominant syndromic ichthyosis with multi-organ involvement. These variants impair KLF4 transcriptional activity, leading to the downregulation of multiple genes, particularly KLK7 and WNT10A. This may disrupt the skin desquamation process and affect multi-organ development in the patients.</p>","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":""},"PeriodicalIF":11.0,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patients with delusional infestation are being given conflicting advice by pharmacy colleagues.","authors":"Pirunthan Pathmarajah, Maria-Angeliki Gkini, Ruth E Taylor, Anthony Bewley","doi":"10.1093/bjd/ljae411","DOIUrl":"10.1093/bjd/ljae411","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"550-551"},"PeriodicalIF":11.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142495468","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal validity of the Hyperhidrosis Quality of Life Index (HidroQoL©) in a phase IIIb clinical trial population with hyperhidrosis: responsiveness and meaningful change.","authors":"Theresa Donhauser, Michaela Gabes, Clarissa Masur, Paul Kamudoni, Sam Salek, Christoph Abels, Christian Apfelbacher","doi":"10.1093/bjd/ljae415","DOIUrl":"10.1093/bjd/ljae415","url":null,"abstract":"<p><strong>Background: </strong>The Hyperhidrosis Quality of Life Index (HidroQoL©) is a well-developed patient-reported outcome measure assessing the quality of life impacts in hyperhidrosis (HH), which has proven very good measurement properties, such as structural validity and internal consistency.</p><p><strong>Objectives: </strong>We aimed to investigate responsiveness over time and estimate values for meaningful within-person change (MWPC) towards symptom improvement for different measurement timepoints (4 and 12 weeks), extending the existing validity evidence in patients with primary axillary HH.</p><p><strong>Methods: </strong>Data (from a phase IIIb clinical trial) were collected at baseline, and at weeks 4, 8, 12, 28, 52 and 72. For the assessment of responsiveness, HidroQoL change scores were correlated with corresponding change scores of the Hyperhidrosis Disease Severity Scale (HDSS), the Dermatology Life Quality Index (DLQI) and gravimetric sweat production based on a priori formulated hypotheses. Furthermore, we tested whether the different HDSS change score groups differed significantly from each other over time and whether the HidroQoL was sensitive towards these group differences over time. This was extended by the calculation of matched-pair tests and effect sizes to test significance for each change group separately. For the estimation of MWPC thresholds towards symptom improvement, different anchor-based and integrated approaches were used.</p><p><strong>Results: </strong>In total, the sample comprised 357 patients with primary axillary HH. For the assessment of responsiveness, five out of 14 a priori hypotheses regarding the correlation of the change scores could be confirmed, whereas the rejected hypotheses differed only marginally from the expected values. Furthermore, regarding responsiveness, the HidroQoL showed sensitivity towards symptom improvement at each measurement timepoint. Effect sizes were large as expected (d ≥ 0.806). MWPC thresholds towards symptom improvement were proposed for two measurement timepoints: 5 (week 4) and 6 (week 12). Increasing MWPC values over time were observed.</p><p><strong>Conclusions: </strong>This study extends the evidence for the longitudinal validity of the HidroQoL© up to 72 weeks and proposed MWPC thresholds for different time intervals (4 and 12 weeks) after baseline, aiding interpretability. Results concur with findings from previous validation studies.</p>","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"450-457"},"PeriodicalIF":11.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142520998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimizing dosing in atopic dermatitis therapy: looking for the cream of the crop.","authors":"Jose-Manuel Carrascosa","doi":"10.1093/bjd/ljae514","DOIUrl":"10.1093/bjd/ljae514","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"373-374"},"PeriodicalIF":11.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deucravacitinib, an oral selective allosteric tyrosine kinase 2 inhibitor, in patients from China mainland, Taiwan and South Korea with moderate-to-severe plaque psoriasis: a phase III randomized clinical trial.","authors":"Jianzhong Zhang, Yangfeng Ding, Ping Wang, Linfeng Li, Weili Pan, Yan Lu, Hao Cheng, Xian Jiang, Ji-Chen Ho, Shuping Guo, Leona Liu, Arkendu Chatterjee, Renata M Kisa, Subhashis Banerjee","doi":"10.1093/bjd/ljae406","DOIUrl":"10.1093/bjd/ljae406","url":null,"abstract":"<p><strong>Background: </strong>Deucravacitinib, an oral selective allosteric tyrosine kinase 2 inhibitor, is approved in the USA, the European Union, Japan, South Korea, China and other countries for the treatment of moderate-to-severe plaque psoriasis.</p><p><strong>Objectives: </strong>To evaluate the efficacy and safety of deucravacitinib in Asian patients with moderate-to-severe plaque psoriasis.</p><p><strong>Methods: </strong>In the 52-week blinded phase III POETYK PSO-3 trial (NCT04167462), patients were randomized 1 : 2 to placebo (n = 74) or deucravacitinib 6 mg once daily (n = 146) for 16 weeks followed by deucravacitinib alone. Co-primary endpoints were the achievement of a ≥75% reduction from baseline in Psoriasis Area and Severity Index (PASI 75) and static Physician Global Assessment score of 0 (clear) or 1 (almost clear; sPGA 0/1) at week 16. Efficacy and safety were evaluated throughout.</p><p><strong>Results: </strong>At week 16, significantly higher proportions of patients receiving deucravacitinib compared with placebo achieved PASI 75 (68.8% vs. 8.1%; P < 0.001) and sPGA 0/1 (55.6% vs. 6.8%; P < 0.001). Response rates with deucravacitinib were maintained through week 52. Common adverse events (AEs) included upper respiratory tract infection and nasopharyngitis. Serious AE and discontinuation rates were low.</p><p><strong>Conclusions: </strong>Deucravacitinib was efficacious and well tolerated in Asian patients with moderate-to-severe plaque psoriasis.</p>","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"402-409"},"PeriodicalIF":11.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142495462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artificial daylight photodynamic therapy using methyl aminolaevulinate in a real-world setting in Germany: results from the noninterventional study ArtLight.","authors":"Wolfgang G Philipp-Dormston, Matthias Brückner, Matthias Hoffmann, Melvin Baé, Jörg Fränken, Bernd Großmann, Uwe Paasch, Sven Quist, Berenice M Lang, Rajeev Chavda, Rolf-Markus Szeimies","doi":"10.1093/bjd/ljae437","DOIUrl":"10.1093/bjd/ljae437","url":null,"abstract":"<p><strong>Background: </strong>Artificial daylight photodynamic therapy (ADL-PDT) is an alternative, all-year applicable, nearly painless treatment approach for actinic keratosis (AK) with comparable effectiveness to daylight or conventional PDT. At the time this study was initiated, methyl aminolaevulinate (MAL) was the only photosensitizer approved for ADL-PDT in Germany.</p><p><strong>Objectives: </strong>To gain comprehensive insights into the practicability of MAL-ADL-PDT in patients with AK using different artificial daylight sources under real-world conditions.</p><p><strong>Methods: </strong>This prospective, noninterventional, multicentre study (ArtLight, NCT05725213) enrolled patients with Olsen grade 1 or 2 AK on the face and scalp in Germany. Patients were treated with MAL-ADL-PDT (160 mg g-1 MAL cream). The primary outcome measure was the practicability of MAL-ADL-PDT assessed as rate of resolved AK lesions in the focus area (10 × 10-cm area within the treatment area). Secondary outcomes included treatment-associated pain (numeric rating scale, NRS), Actinic Keratosis Area and Severity Index (AKASI), total lesion count over time, skin preparation, safety, overall assessment of effectiveness, tolerability, adherence and patient satisfaction.</p><p><strong>Results: </strong>In total, 224 patients [median age 75.0 (range 50-91) years, 85.3% male, 62.5% AK Olsen grade 2, 55.4% treatment-naïve] were included and treated with MAL-ADL-PDT. Three months after treatment, lesion counts were reduced in the focus area by 71% (P < 0.001) indicating practicability of the treatment. Nearly all patients (93.3%) experienced no or mild pain during PDT (NRS score 0-3). Median AKASI decreased from 6.2 at baseline to 3.4 at month 3 (95% confidence interval 2.4-3.0; P < 0.001). The majority of investigators (82.8%) and patients (80.0%) were satisfied with the treatment. No new safety signals were reported.</p><p><strong>Conclusions: </strong>The clinical practicability of MAL-ADL-PDT was demonstrated under real-world conditions by effective lesion reduction and predominantly none-to-mild procedural pain. Thus, MAL-ADL-PDT is a convenient way for healthcare professionals to deliver PDT treatment to patients with AK located on the face and scalp.</p>","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"510-519"},"PeriodicalIF":11.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ethical implications of artificial intelligence in skin cancer diagnostics: use-case analyses.","authors":"Syed F H Shah, Daniel Arecco, Heather Draper, Simona Tiribelli, Eli Harriss, Rubeta N Matin","doi":"10.1093/bjd/ljae434","DOIUrl":"10.1093/bjd/ljae434","url":null,"abstract":"<p><strong>Background: </strong>Skin cancer is the most common cancer worldwide. Early diagnosis is crucial to improving patient survival and morbidity. Artificial intelligence (AI)-assisted smartphone applications (apps) for skin cancer potentially offer accessible, early risk assessment of suspicious skin lesions. However, the integration of novel technologies into dermatology pathways raises ethical concerns. Although ethical principles for AI governance are well known, how these principles should be applied to real-life AI apps readily available for public use is less well understood.</p><p><strong>Objectives: </strong>To conduct an ethical use-case analysis of commercially available skin cancer apps, to better understand the ethical issues arising from their development and use in a real-world context.</p><p><strong>Methods: </strong>Established methods for the ethical analysis of clinical AI applications were applied to two popular skin cancer apps in the UK: SkinVision and Scanoma. Systematic searches of published literature, regulatory documents and websites were conducted to review the evidence regarding app development, effectiveness and use. Screening for inclusion was undertaken by two researchers independently. Ethical concerns were identified with reference to previously described ethical concerns and principles for AI-assisted healthcare.</p><p><strong>Results: </strong>By conceptualizing ethical principles within the use-context of skin cancer apps, we identified specific ethical issues arising throughout the AI lifecycle of both apps. One company provided extensive detail regarding algorithm development and decision-making; this information was insufficiently reported for the other app. Other concerns identified were related to number, quality and consistency of studies assessing algorithm efficacy. Limited efforts to address potential skin tone biases and the exclusion of individuals with darker skin tones as target users by one app risks perpetuating existing inequalities. Inadequate regulatory oversight was identified.</p><p><strong>Conclusions: </strong>Findings from our ethical use-case analysis of two patient-facing AI-assisted skin cancer apps suggest inadequate incorporation of bioethical norms such as justice, responsibility and transparency into the development and deployment of both apps. Improved regulation should increase accountability. Ensuring ethics by design through integration between technology developers, dermatologists, ethicists and the public is urgently needed to prevent the potential benefits of AI-assisted skin cancer apps being overshadowed by potential ethical harms.</p>","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"520-529"},"PeriodicalIF":11.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeting type 2 inflammation in bullous pemphigoid: dupilumab as a game changer opens new avenues.","authors":"Luca Borradori, Michael Hertl","doi":"10.1093/bjd/ljae465","DOIUrl":"10.1093/bjd/ljae465","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"377-378"},"PeriodicalIF":11.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142827490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary cutaneous Alternaria alstroemeriae infection.","authors":"Ximing Yang, Li Li, Min Zhu","doi":"10.1093/bjd/ljae409","DOIUrl":"10.1093/bjd/ljae409","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"558"},"PeriodicalIF":11.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142495469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}