British Journal of Dermatology最新文献

{"title":"Evolution of long scalp hair in humans.","authors":"Lo-Yu Chang, Maksim V Plikus, Nina G Jablonski, Sung-Jan Lin","doi":"10.1093/bjd/ljae456","DOIUrl":"https://doi.org/10.1093/bjd/ljae456","url":null,"abstract":"<p><p>The ability to grow long scalp hair is a distinct human characteristic. It probably originally evolved to aid in cooling the sun-exposed head, although the genetic determinants of long hair are largely unknown. Despite ancestral variations in hair growth, long scalp hair is common to all extant human populations, which suggests its emergence before or concurrently with the emergence of anatomically modern humans (AMHs), approximately 300 000 years ago. Long scalp hair in AMHs was also a trait that was selected because it conveyed essential signals related to an individual's age, sexual maturity, health and social status. Biologically, hair length is primarily determined by the amount of time that a hair follicle spends in the active growth phase (anagen). While anagen duration is typically tightly regulated in most mammals, the inherent ability of a hair follicle to continuously recruit new dividing progenitors to its base, where hair fibre is generated, theoretically removes limits on maximal anagen duration. We propose a model wherein hair cycle progression into and out of anagen is regulated by evolutionary malleable molecular checkpoints. Several animal species and domesticated animal breeds display long body hair, which suggests that extremely long scalp hair in humans emerged via attenuation of an existing out-of-anagen checkpoint mechanism rather than via a newly evolved molecular programme. Studying congenital and somatic mosaicism conditions featuring altered hair length could potentially unveil the currently unknown molecular basis underlying this human trait.</p>","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":""},"PeriodicalIF":11.0,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000507","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":"Melanoma: Assessment and Management summary of 2022 update of the NICE guidelines.","authors":"Myles J Smith, Howard Peach, Steve Keohane, John Lear, Lynne A Jamieson, Hesham S Mohamed","doi":"10.1093/bjd/ljaf016","DOIUrl":"https://doi.org/10.1093/bjd/ljaf016","url":null,"abstract":"<p><p>Melanoma is the fifth most common skin cancer in the UK, accounting for 4% of all new cancer cases, with a predicted 7% increase in incidence between 2014-35. In parallel, since the initial publication of the Melanoma NICE Guidelines in 2015, there has been a paradigm shift in the management of the disease, with the introduction of effective systemic therapies. These innovations have reshaped the management of melanoma throughout the patient journey, and improved clinical outcomes. Surgical management has evolved, with the role of sentinel node biopsy in staging and management of regional lymph nodes becoming clearly defined, and a reduction in the need and indications for morbid block dissections. In advanced disease, effective therapies have allowed a de-escalation of surgery, changing the role and sequencing of local therapies. Regional therapies for in-transit disease have expanded and are effective in controlling this pattern of disease as part of multidisciplinary care. These advances have undoubtedly improved the care for people with melanoma, but have also increased the complexity of management. In this context, this article seeks to summarizes the most relevant of the recent updates to the NICE guidelines.</p>","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":""},"PeriodicalIF":11.0,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000511","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":"Exploring Telitacicept in a patient with Pemphigus Vulgaris.","authors":"Quanhong Zhang, Jun Zhang, Bintao Su, Ruili Jiang, Lang Yu, Liuqing Chen, Jinbo Chen","doi":"10.1093/bjd/ljaf023","DOIUrl":"https://doi.org/10.1093/bjd/ljaf023","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":""},"PeriodicalIF":11.0,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000508","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":"Fibroblast Growth Factor Receptor 2 Variants in Schimmelpenning-Feuerstein-Mims Syndrome.","authors":"Yixin Wang, Lingyun Zhao, Yuling Chen, Lingyu Pan, Runke Zhou, Li Li","doi":"10.1093/bjd/ljaf025","DOIUrl":"https://doi.org/10.1093/bjd/ljaf025","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":""},"PeriodicalIF":11.0,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000509","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":"Long-term safety and efficacy of Oleogel-S10 (birch bark extract) in epidermolysis bullosa: 24-month results from the Phase III EASE Study.","authors":"Dédée F Murrell, Christine Bodemer, Anna L Bruckner, Tracy Cunningham, Charles Davis, Mariá Florencia Fernández, Dimitra Kiritsi, Laura Maher, Eli Sprecher, Mauricio Torres Pradilla, Johannes S Kern","doi":"10.1093/bjd/ljaf022","DOIUrl":"https://doi.org/10.1093/bjd/ljaf022","url":null,"abstract":"<p><strong>Background: </strong>Epidermolysis bullosa (EB) is a group of rare, severe, genetic disorders characterised by persistent skin fragility and open wounds. EB manifests as cutaneous and mucosal blistering, erosions and impaired wound healing.</p><p><strong>Objectives: </strong>To determine the long-term efficacy, tolerability and safety of Oleogel-S10 (birch bark extract) in dystrophic (DEB) and junctional (JEB) EB in the 24-months open-label phase (OLP) of the EASE study.</p><p><strong>Methods: </strong>EASE was a double-blind, randomised, controlled, phase III study consisting of two phases: a 90-day double-blind phase (DBP), and a 24-month OLP. Patients from both former treatment groups in the DBP entered the single-arm OLP (n = 205). Patients received Oleogel-S10 on all EB partial thickness wounds. OLP endpoints included: incidence, severity/relatedness of adverse events (AEs), wound infection maximum severity, changes in body surface area percentage (BSAP) of wounds, EB Disease Activity and Scarring Index (EBDASI), pain, itch, disease severity and quality of life outcomes.</p><p><strong>Results: </strong>The OLP data demonstrated Oleogel-S10 target wound treatment adherence was >99% and mean treatment duration was 584.7 days (±246.1 days). 71.7% of patients in the OLP were aged <18 years and 86.8% had DEB; recessive DEB predominated (78.0%). AEs were reported in 77.1% of patients and were typically mild-to-moderate. Severe and serious AEs were observed in 18.0% and 24.4% of patients, respectively. AEs resulted in the withdrawal of 7.8% of patients (n = 16), including three with treatment-related AEs. Nine deaths were reported: none attributable to treatment. Incidence of target wound infections was low (n = 7); five were mild-to-moderate and two severe. In patients treated with Oleogel-S10 throughout, mean (SD) BSAP changes from DBP baseline at 3, 12 and 24 months were -4.3% (8.1), P < 0.0001; -5.9% (8.6), P < 0.0001; -3.7% (9.0), P = 0.0026, respectively. Similarly, significant changes in EBDASI skin activity score from DBP baseline were observed: -3.9 (8.3), P < 0.0001; -5.1 (8.2), P < 0.0001; -3.0 (8.3), P = 0.0068, at 3, 12 and 24 months, respectively.</p><p><strong>Conclusions: </strong>These data support an encouraging long-term safety profile of Oleogel-S10, and a sustained reduction in wound burden over at least 24 months of Oleogel-S10 treatment.</p>","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":""},"PeriodicalIF":11.0,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000510","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":"Real-World Melanoma Miss-Rate In An NHS Hospital Dermatology Service. A Retrospective Study.","authors":"Alexander D G Anderson, Hafsa F Shirwac, Hannah Morgan, Huw Greenish, Sarah Carswell, Victoria Owen, Harry Heath, James Koutsis, Pascale Guitera","doi":"10.1093/bjd/ljaf024","DOIUrl":"https://doi.org/10.1093/bjd/ljaf024","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":""},"PeriodicalIF":11.0,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000512","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":"Prevalence of Chronic Hand Eczema in adults: A cross-sectional survey of over 60,000 respondents in the general population in Canada, France, Germany, Italy, Spain, and the United Kingdom.","authors":"Christian Apfelbacher, Anthony Bewley, Sonja Molin, Maria Concetta Fargnoli, Ana Maria Giménez-Arnau, Lysel Brignoli, Bleuenn Rault, Jenny M Norlin, Tea Skaaby, Marie-Noëlle Crépy","doi":"10.1093/bjd/ljaf020","DOIUrl":"https://doi.org/10.1093/bjd/ljaf020","url":null,"abstract":"<p><strong>Background: </strong>The lack of attention to Chronic Hand Eczema (CHE) and the lack of a specific International Classification of Diseases code for CHE may have limited the assessment of CHE prevalence. To date, prevalence estimates have primarily been derived from (partly small) single-country studies.</p><p><strong>Objectives: </strong>To estimate the annual prevalence of self-reported physician-diagnosed CHE across socio-demographic characteristics among adults in Canada, France, Germany, Italy, Spain, and the United Kingdom (UK).</p><p><strong>Methods: </strong>In this observational Chronic Hand Eczema epidemiology, Care, and Knowledge of real-life burden (CHECK) study, a questionnaire was administered to adults between 18 and 69 years old in the general population, recruited through online panels. Quotas and minor weighting adjustments were performed to ensure that the participants were representative of the general population regarding sex, age, region, employment status, urban/rural setting, and, in the UK only, ethnicity. Additional weights were applied to account for population size differences when aggregating country results. Information on self-reported physician-diagnosed CHE was collected. CHE was defined, in accordance with the European Society of Contact Dermatitis, as having hand eczema continuously for three months or more or at least two flares in the past 12 months. CHE annual prevalence with 95% confidence intervals (CIs) was determined for each country, and by subgroups of sex, age, employment, and urban/rural.</p><p><strong>Results: </strong>Among 60,131 participants, 2,847 self-reported physician-diagnosed CHE, yielding an annual prevalence of 4.7% (CI: 4.6-4.9). Subgroup analyses revealed the CHE prevalence was significantly higher in females than males (5.6% [5.4-5.9] vs. 3.8% [3.6-4.1]; P<0.001), in employed versus unemployed participants (5.3% [5.1-5.6] vs. 3.3% [3.1-3.6]; P<0.001), and in urban versus rural residents (5.0% [4.8-5.2] vs. 3.7% [3.4-4.1]; P<0.001). The prevalence was highest among those aged 30-39 years (6.5% [6.0-7.0]) and lowest in those aged 60-69 years (2.6% [2.3-3.0]).</p><p><strong>Conclusions: </strong>This large multi-national study is the first to assess CHE prevalence in Europe and Canada using a consistent definition across a broad geographical population. This study reveals that CHE is a common skin disease with annual prevalence of 4.7%, with higher prevalence among females, individuals aged 30-39, those employed, and those living in urban areas.</p>","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":""},"PeriodicalIF":11.0,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142963877","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":"Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.","authors":"Pirunthan Pathmarajah, Edward Eid, Jaron Nazaroff, Jodi So, Vaishali Mittal, Nicki Harris, Shufeng Li, Anne W Lucky, Emily S Gorell, Kathleen G Peoples, Elena Pope, Irene Lara-Corrales, Amy S Paller, Karen Wiss, Marissa J Perman, Lawrence F Eichenfield, Moise L Levy, Kimberly D Morel, Maria T García-Romero, Catherine C McCuaig, Melissa Saber, M Peter Marinkovich, Anthony Oro, Anna L Bruckner, Jean Y Tang","doi":"10.1093/bjd/ljaf015","DOIUrl":"https://doi.org/10.1093/bjd/ljaf015","url":null,"abstract":"<p><p>Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function. Three impact categories were postulated: genotypes that would likely cause a low impact on C7 function (splice B/missense, missense/missense), medium impact [premature termination codon (PTC)/splice B, splice A/splice B, PTC/missense, splice A/missense, splice B/splice B] and high impact (PTC/PTC, PTC/splice A, splice A/splice A). Splice A variants are predicted to cause downstream PTCs while splice B variants cause in-frame exon skipping and are therefore less deleterious. Severity of functional impact was significantly associated with history of gastrostomy tube placement, esophageal dilation, hand surgery, anemia, renal disease, chronic wounds, diffuse skin involvement and history of squamous cell carcinoma. Odds of death were 3.25 (1.24-8.50, p=0.02) higher in the high vs medium impact group. High impact group patients had worse clinical outcomes. Functional genotype categories are a feasible approach to risk stratify patients based on predicted C7 function.</p>","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":""},"PeriodicalIF":11.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142944756","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":"Development of novel patient-reported outcome instruments to assess atopic dermatitis-associated dyspigmentation and xerosis in patients with skin of colour.","authors":"Christopher Hartford, Andrew Alexis, Zhixiao Wang, Noah A Levit, Benjamin Banderas, Andrew Yaworsky, Emily Love, Brad Shumel, Gaëlle Bégo-Le-Bagousse, Diana Rofail","doi":"10.1093/bjd/ljae494","DOIUrl":"https://doi.org/10.1093/bjd/ljae494","url":null,"abstract":"<p><strong>Background: </strong>The prevalence and burden of atopic dermatitis (AD) are disproportionately high in individuals with skin of colour (SOC). Previous research shows that risk for xerosis and/or dyspigmentation is heightened in this population and may be more bothersome. However, there are no patient-reported instruments developed specifically for these disease sequelae in patients with SOC.</p><p><strong>Objectives: </strong>To develop and perform content validation of patient-reported outcome (PRO) questionnaires to assess AD-related xerosis and dyspigmentation in patients with SOC.</p><p><strong>Methods: </strong>A targeted literature review was conducted to understand and identify AD-related disease sequelae and quality-of-life impacts relevant to patients with SOC and any instruments used to assess AD in the target population. Two draft PRO questionnaires assessing xerosis (X-AD) and dyspigmentation (D-AD) were developed and refined following advice meetings with clinical experts (N = 3). Questionnaire content validity was explored during hybrid concept elicitation (CE) and cognitive-debriefing (CD) interviews with adult and adolescent patients with SOC who have moderate-to-severe AD (N = 15).</p><p><strong>Results: </strong>Ten concept-focused articles, three websites, 17 labels, one United States Food and Drug Administration compendium and one clinical trial confirmed xerosis and dyspigmentation were important AD-related disease sequelae. Patients with SOC (46.7% female; age range 12.2-76.1 years) reported that each questionnaire was relevant to their AD experience in an appropriate recall timeframe, were readily understood and meaningful responses were easy to select. The final X-AD consisted of one 11-point numeric rating scale (NRS) assessing xerosis severity and two items assessing the level of bother associated with xerosis appearance and feeling over the past week (0-4 verbal rating scale). The final D-AD consisted of two 11-point NRS items assessing dyspigmentation severity and two items assessing the level of bother associated with how dyspigmentation looked over the past week.</p><p><strong>Conclusions: </strong>The X-AD/D-AD questionnaires were well understood and effective in capturing the experiences of xerosis and dyspigmentation in the target population in an appropriate and comprehensive way. The study supports the initial development of the questionnaires in accordance with regulatory guidelines and best practices, however psychometric validation is required to evaluate the properties of each questionnaire and develop score interpretation guidelines.</p>","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":""},"PeriodicalIF":11.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962187","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":"Perianal melanosis.","authors":"Xiya Zhao, Junqin Li","doi":"10.1093/bjd/ljaf009","DOIUrl":"https://doi.org/10.1093/bjd/ljaf009","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":""},"PeriodicalIF":11.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962188","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}