The British journal of dermatology最新文献

{"title":"Scalp-ear-nipple syndrome: a clinical and pathogenetic review using novel artificial intelligence methodology.","authors":"Adam C Green, Julian R Sampson, Andrew Y Finlay","doi":"10.1093/bjd/ljag260","DOIUrl":"https://doi.org/10.1093/bjd/ljag260","url":null,"abstract":"<p><p>Scalp-ear-nipple (SEN) syndrome (OMIM #181270) is a rare autosomal dominant ectodermal dysplasia characterized by aplasia cutis congenita (ACC) of the scalp, overfolded ear helices and breast aplasia. Since the identification of heterozygous KCTD1 pathogenic variants as the molecular cause in 2013, our understanding of this condition has undergone substantial revision. KCTD1 encodes a 257-amino-acid BTB domain-containing protein that forms pentameric complexes and functions as a transcriptional repressor of transcription factor AP-2α. All currently reported SEN-causing variants cluster within a narrow window (residues 20-74) of the BTB and pre-BTB domains, consistent with a dominant-negative rather than haploinsufficiency mechanism. Mutant KCTD1 retains the ability to oligomerize but cannot bind AP-2α and poisons wildtype function by incorporating into nonfunctional heteropentamers with both KCTD1 and its paralogue KCTD15. Several developments have reshaped the molecular narrative. The only paper reporting direct KCTD1-β-catenin binding was retracted in 2022 for data integrity concerns, leaving the precise Wnt/β-catenin mechanism incompletely characterized despite independent evidence supporting the role of KCTD1 in Wnt modulation. Conditional knockout of Kctd1 and Kctd15 in mice demonstrated that ACC arises from neural crest cell dysfunction, not from a primary keratinocyte defect, establishing SEN-associated ACC as a neurocristopathy. Most recently, KCTD1 has been shown to inhibit not only Wnt but also the Hedgehog and Notch signalling pathways, and to regulate cAMP signalling through adenylyl cyclase 5, although the relevance to SEN is unclear. This review critically evaluates the current evidence for SEN syndrome pathogenesis, integrates the multipathway model and examines the tissue-specificity question. We identify key unresolved questions and propose an experimental roadmap for future investigation. With approximately 30-50 molecularly confirmed cases worldwide and no formal clinical guidelines, this review provides a comprehensive molecular and clinical framework for a condition at the intersection of developmental biology, structural biology and clinical genetics. This review was written with novel artificial intelligence methodology.</p>","PeriodicalId":520789,"journal":{"name":"The British journal of dermatology","volume":" ","pages":""},"PeriodicalIF":9.6,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Circadian rhythm and minoxidil: avenues for further investigation.","authors":"Derek Maas, Archie Spindler, Isabella Zappi, Margaret Cote, Jolie Kantor, Esha Patel, Sarah Go, Ian M Ahearn, Ian W Tattersall, Lynn Petukhova, Jerry Shapiro, Kristen I Lo Sicco","doi":"10.1093/bjd/ljag429","DOIUrl":"https://doi.org/10.1093/bjd/ljag429","url":null,"abstract":"","PeriodicalId":520789,"journal":{"name":"The British journal of dermatology","volume":" ","pages":""},"PeriodicalIF":9.6,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dental Sinus: Cutaneous Clues to a Root Cause.","authors":"Stephanie Farrugia, Lawrence Scerri","doi":"10.1093/bjd/ljag428","DOIUrl":"https://doi.org/10.1093/bjd/ljag428","url":null,"abstract":"","PeriodicalId":520789,"journal":{"name":"The British journal of dermatology","volume":" ","pages":""},"PeriodicalIF":9.6,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Daytime oral minoxidil: a new question, and an open mechanism.","authors":"Jai Sareen, Jeffrey Donovan","doi":"10.1093/bjd/ljag426","DOIUrl":"https://doi.org/10.1093/bjd/ljag426","url":null,"abstract":"","PeriodicalId":520789,"journal":{"name":"The British journal of dermatology","volume":" ","pages":""},"PeriodicalIF":9.6,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chronic spontaneous urticaria: have we solved treatment before understanding the disease?","authors":"Michael R Ardern-Jones","doi":"10.1093/bjd/ljag401","DOIUrl":"https://doi.org/10.1093/bjd/ljag401","url":null,"abstract":"","PeriodicalId":520789,"journal":{"name":"The British journal of dermatology","volume":" ","pages":""},"PeriodicalIF":9.6,"publicationDate":"2026-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149070882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and Safety of Risankizumab in Paediatric Patients With Psoriasis in the OptIMMize-1 Phase III Study.","authors":"Nina Magnolo, Wine Lee Lara, Adam Reich, Irene Lara-Corrales, Akimichi Morita, Michael Bukhalo, Asunción Vicente, Toni Anschutz, Rosie D Lyles, Tshepiso Madihlaba, Kristina Unnebrink, Doug Ashley, Dolly Sharma, Ronilda D'Cunha, Amy S Paller","doi":"10.1093/bjd/ljag403","DOIUrl":"https://doi.org/10.1093/bjd/ljag403","url":null,"abstract":"<p><strong>Background: </strong>Treatment options for paediatric patients with psoriasis are limited, and additional, more advanced therapies are needed. Risankizumab is an interleukin-23 inhibitor approved to treat moderate-to-severe psoriasis in adults.</p><p><strong>Objectives: </strong>To evaluate efficacy and safety of risankizumab through 52 weeks in paediatric patients with moderate-to-severe psoriasis.</p><p><strong>Methods: </strong>OptIMMize-1 (NCT04435600) was a phase III, multicentre, 4-part study. Parts 1, 3, and 4 were 52-week, open-label studies. Part 2 consisted of a 16-week initial treatment period (Period A; 2:1 risankizumab:ustekinumab randomization), followed by an up to 36-week randomized treatment or withdrawal period (Period B) for risankizumab responders, with a potential 16-week retreatment period (Period C) for patients who experience a disease flare. Risankizumab nonresponders and patients randomized to ustekinumab in Period A received risankizumab during Period B. Key outcomes included the proportion of patients achieving a static Physician's Global Assessment (sPGA) score of clear/almost clear (sPGA0/1), sPGA0/1 with ≥2-grade improvement (sPGA0/1+≥2GI), or ≥75%/≥90%/100% improvement in PASI (PASI75/90/100). The study also assessed itch severity, quality of life, and safety.</p><p><strong>Results: </strong>A total of 137 patients enrolled. In Part 2 (risankizumab, n = 54; ustekinumab, n = 28), week 16 response rates were similar: sPGA0/1 was 79.6% for risankizumab and 75.0% for ustekinumab; sPGA0/1+≥2 GI rates were 68.5% vs. 67.9%; PASI75 rates were 85.2% vs. 85.7%; and PASI90 rates were 64.8% vs. 60.7%. PASI100 responses were higher with risankizumab (40.7%) than with ustekinumab (17.9%). In Part 4 (n = 30), week 16 rates were sPGA0/1: 90.0%, sPGA0/1+≥2GI: 83.3%, PASI75: 86.7%, PASI90: 76.7%, and PASI100: 43.3%; week 52 responses were maintained or improved. Skin clearance outcomes in Parts 1 and 3 were consistent with those observed with continuous risankizumab treatment in Parts 2 and 4. Improvements in itch and quality of life (assessed in Part 2 only) were observed at weeks 16 and 52. Risankizumab safety profiles were consistent with those observed in prior adult psoriasis studies.</p><p><strong>Conclusions: </strong>Risankizumab was well tolerated in paediatric patients, resulting in marked improvements in skin clearance, itching, and quality of life after 16 weeks of treatment. Efficacy was maintained or improved at week 52, supporting risankizumab use for moderate-to-severe psoriasis in this population.</p>","PeriodicalId":520789,"journal":{"name":"The British journal of dermatology","volume":" ","pages":""},"PeriodicalIF":9.6,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149065989","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidermal Necrolysis in Children: Clinical Characteristics and Prognosis: An International Retrospective Multicenter Study (ChildTEN Study).","authors":"Bérénice Mouton, Saskia Ingen-Housz-Oro, Léa Jaume, Marie-Louise Lovgren, Lauren Passby, Sanita Zigure, Helen Hoenck, Rannakoe Lehloenya, Angela Tewari, Brigitte Milpied, Clémentine Toussaint, Carmen Salvastru, Frederic Dezoteux, Léa Dehame, Tania Adam, Claire Bernier, Claire Cariou, Florence Tetart, Smail Hadj-Rabia, Christine Bodemer, Anne Welfringer-Morin","doi":"10.1093/bjd/ljag422","DOIUrl":"https://doi.org/10.1093/bjd/ljag422","url":null,"abstract":"","PeriodicalId":520789,"journal":{"name":"The British journal of dermatology","volume":" ","pages":""},"PeriodicalIF":9.6,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149066290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Upadacitinib for Palmoplantar Pustulosis: An Open-label, Assessor-blinded Feasibility Study Using Historic Control Data (JAKPPPOT).","authors":"David Gleeson, Sarah Chapman, Neville Qin, John Gregory, Amelia Mitchell-Gears, Jade Pizzato, Kingsley Powell, Manpreet K Sagoo, Weiyu Ye, Lucy Moorhead, Jonathan Barker, James Galloway, Helen McAteer, Richard Woolf, Andrew E Pink, Suzie Cro, Satveer Mahil, Catherine Smith","doi":"10.1093/bjd/ljag410","DOIUrl":"https://doi.org/10.1093/bjd/ljag410","url":null,"abstract":"<p><strong>Background: </strong>Palmoplantar pustulosis (PPP) is a rare, disabling inflammatory skin disease with substantial unmet need. Janus kinase inhibitors (JAKi) target inflammatory pathways implicated in PPP. High smoking prevalence and rare disease status mean that a randomised controlled trial (RCT) to evaluate the efficacy and safety of JAKi in PPP may be challenging.</p><p><strong>Objectives: </strong>To determine the feasibility of a future RCT of JAKi therapy in PPP and generate an exploratory estimate of treatment effect.</p><p><strong>Methods: </strong>This open-label, assessor-blinded feasibility trial, conducted at a UK national specialist dermatology centre, enrolled adults (≥18 years) with moderate-to-severe PPP and treated them with upadacitinib 30 mg once daily for 8 weeks (15 mg for higher-risk individuals). Primary feasibility endpoints were recruitment (consent rate), adherence (≥80% of days covered), and acceptability ('completely acceptable'/'acceptable' on post-treatment 5-point Likert scale). Secondary outcomes included change from baseline in Palmoplantar Pustulosis-Psoriasis Area and Severity Index (PP-PASI) and safety. Study procedures were harmonised with a previous RCT in PPP, permitting comparison with historic placebo data. Analyses were descriptive with baseline-adjusted PP-PASI change estimated with a linear (Gaussian) mixed-effects model.</p><p><strong>Results: </strong>All prespecified feasibility criteria were met. Of 67 contacted individuals, 28 consented (41.8%), and 20 started treatment (71.4%; mean age 46.0 years; 85% female). Adherence ≥80% was achieved by 19/20 participants (95%), with a mean proportion of days covered of 95.7% (SD 9.7). 18/19 participants (94.7%) viewed treatment as acceptable. Mean PP-PASI decreased from 20.3 (SD 10.6) at baseline to 4.6 (SD 4.5) at week 8 with upadacitinib, versus 18.0 (SD 10.4) to 15.4 (SD 10.1) with historic placebo. Baseline-adjusted PP-PASI change at week 8 for upadacitinib relative to historic placebo was -12.3 (95% CI -15.8 to -8.9) in favour of upadacitinib. PP-PASI50 and PP-PASI75 responses with upadacitinib relative to historic placebo were 100% vs 16.1% and 65.0% vs 3.2%. The most common adverse events were headache, acne, and upper respiratory tract infections.</p><p><strong>Conclusions: </strong>This study demonstrates that a definitive trial of JAK inhibition in PPP is feasible and identifies an encouraging exploratory efficacy signal. The findings support progression to a multicentre active-comparator randomised controlled trial.</p>","PeriodicalId":520789,"journal":{"name":"The British journal of dermatology","volume":" ","pages":""},"PeriodicalIF":9.6,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149066677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Eruptive Xanthomas as the first sign of cardiometabolic disease.","authors":"Michelle D Van Der Merwe, Husna Moola, Willem I Visser","doi":"10.1093/bjd/ljag423","DOIUrl":"https://doi.org/10.1093/bjd/ljag423","url":null,"abstract":"","PeriodicalId":520789,"journal":{"name":"The British journal of dermatology","volume":" ","pages":""},"PeriodicalIF":9.6,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149043364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply to 'Caution in interpreting retrospective comparisons of acitretin and bexarotene in mycosis fungoides'.","authors":"Victoria Garfinkel, Beth A Childs, Brielle E Johnson, Kiran A Kumar, Todd A Aguilera, Praveen R Geethakumari, Heather W Goff","doi":"10.1093/bjd/ljag388","DOIUrl":"https://doi.org/10.1093/bjd/ljag388","url":null,"abstract":"","PeriodicalId":520789,"journal":{"name":"The British journal of dermatology","volume":" ","pages":""},"PeriodicalIF":9.6,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149033026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}