Clinical and Experimental Dermatology最新文献

{"title":"Pachydermoperiostosis: Cosmetic implications in a multi-system genetic condition.","authors":"James W Dickens, Kian Wah Lim, Matthew Roy, Hannah Wainman","doi":"10.1093/ced/llae337","DOIUrl":"https://doi.org/10.1093/ced/llae337","url":null,"abstract":"<p><p>We present the case of a 17-year-old gentleman, initially referred to rheumatology with painful enlargement of his joints, along with prominence of facial features consistent with cutis verticis gyrata. Genetic testing confirmed a diagnosis of pachydermoperiostosis, a rare genetic condition characterised by digital clubbing, long bone periostosis and pachydermia. Our patient exhibited heterozygosity for the SLCO2A1 variant, which is known to confer more prominent skin and bone features than other known underlying mutations. His arthralgia caused significant functional impairment, but moreover there were concerns regarding the psychosocial impact of his cosmetic features, for which there appear to be few available medical therapies. As a multi-system genetic condition, pachydermoperiostosis is also known to be associated with other significant sequelae such as myelofibrosis and gastric ulceration, highlighting the importance of its early detection, which may be aided by the recognition of dermatological signs. In our patient's case, the concurrence of orthostatic hypotension and iron deficiency anaemia were concluded to be a function of restricted dietary intake due to his change in appearance, once again highlighting the cosmetic implications of this condition, and importance of further research into its medical management.</p>","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":null,"pages":null},"PeriodicalIF":3.7,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141987566","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}

{"title":"Prognostic significance of the Systemic Immune-Inflammation Index in Steven-Johnson Syndrome and Toxic Epidermal Necrolysis (SJS/TEN) patients.","authors":"Winn Hui Han, Tobias Tshung En Wong, Ruhana Che Yusof, Rebecca Kai Jan Choong, Shin Shen Yong, Nik Aimee Azizah Faheem, Zhenli Kwan","doi":"10.1093/ced/llae332","DOIUrl":"https://doi.org/10.1093/ced/llae332","url":null,"abstract":"<p><p>Inflammatory markers such as neutrophil-lymphocyte ratio (NLR) and eosinophil count are known prognostic indicators for SJS/TEN severity. This study explored the correlation of systemic immune-inflammatory index (SII), platelet-lymphocyte ratio (PLR) and NLR with SCORTEN and patient outcomes. A retrospective audit of 34 SJS/TEN patients (25 SJS, 3 SJS/TEN overlap, 6 TEN) was conducted from 2018 to 2022 revealed mean admission values of SII 1597 (standard deviation (SD) 1904.18), NLR 6.52 (SD 5.99) and PLR 201.74 (SD 135.01). Cut-off values for predicting mortality were SII 1238.25 (area under ROC (AUROC) 0.82), NLR 8.32 (AUROC 0.8) and PLR 284.66 (AUROC 0.78). Multiple logistic regression using a backward stepwise method identified SCORTEN as a significant factor associated with mortality (p=0.029) after adjusting for SII, NLR and PLR. None of the inflammatory markers significantly predicted mortality, although admission PLR may be a potential risk factor (p=0.053).</p>","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":null,"pages":null},"PeriodicalIF":3.7,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141987567","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}

{"title":"Coalescing and satellite erythematous papules on the calves and thighs of a middle-aged man.","authors":"Cherry Choudhary, Ewa Kloczko, Ashley Spencer, Christopher McNamara, Satyen Gohil, Kristina Semkova, Eugene Ong, Ian Proctor, Hsiu Tung, Eduardo Calonje, Christopher B Bunker","doi":"10.1093/ced/llae307","DOIUrl":"https://doi.org/10.1093/ced/llae307","url":null,"abstract":"<p><p>This case study describes a 52-year-old male diagnosed with cutaneous Rosai-Dorfman disease (RDD), presenting with unusual manifestations confined to the skin. We highlight the diversity and diagnostic challenges of RDD and discuss conventional and targeted treatments for RDD.</p>","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":null,"pages":null},"PeriodicalIF":3.7,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141981857","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}

{"title":"An Algorithmic Approach Towards Diagnosis of Patients with Hereditary Reticulate Pigmentary Disorders- A narrative review.","authors":"Liza Mohapatra, Kabir Sardana, Maitreyee Panda, Rahul Mahajan","doi":"10.1093/ced/llae322","DOIUrl":"https://doi.org/10.1093/ced/llae322","url":null,"abstract":"<p><p>Hereditary reticulate pigmentary disorders include a group of genetic disorders with net-like pigmentation as their predominant presentation. Many of these hereditary reticulate pigmentary disorders have a wide array of cutaneous presentations with overlapping features. Furthermore, some of these disorders also have systemic manifestations. The overlapping features often add confusion and cause delay in the diagnosis. Based on the literature search, we propose an easy-to-follow concise diagnostic algorithm for the same. This would aid in ordering a definite genetic test. A thorough data search was done using data base PubMed using the following keywords. It included \"'inherit*' OR 'genetic'\" AND \"reticulate AND pigment*\"'. Thereafter, an individual disease search was done using keywords 'Dowling-Degos disease', 'Dyschromatosis Hereditaria Symmetrica', 'Acropigmentation of Kitamura', 'Dyschromatosis Universalis Hereditaria', 'Naegeli-Franceschetti-Jadasssohn syndrome', 'X-linked reticulate pigmentary disorder' and 'Dyskeratosis congenita'. The search included case reports, series, observational studies, narrative and systematic reviews, clinical trials. Acquired pigmentary disorders were excluded. A total of 1994 articles were retrieved. Finally, 625 articles were included for the review. The articles were narrative review articles (40), case series (23), observational studies (44), and case reports (518). An easy-to-follow clinical diagnostic algorithm based on age of onset, distribution, and other parameters would definitely aid in reaching a provisional diagnosis. And further this approach will help in the genetic workup of a case of hereditary reticulate pigmentary disorder.</p>","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":null,"pages":null},"PeriodicalIF":3.7,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975165","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}

{"title":"Characterising the use of full and split thickness skin grafts amongst dermatologists: An international survey.","authors":"Puo Nen Lim, Brogan Kelly Salence, William Thomas Nicholas Hunt","doi":"10.1093/ced/llae295","DOIUrl":"https://doi.org/10.1093/ced/llae295","url":null,"abstract":"","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":null,"pages":null},"PeriodicalIF":3.7,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975166","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}

{"title":"Dose escalation and associated economic outcomes in patients with psoriasis treated with biologics: A retrospective analysis of German health claims data.","authors":"Andreas Pinter, Ahmed M Soliman, Karina C Manz, Valeria Weber, Paul Ludwig, Anja Mocek, Ariane Höer, Sven G Richter, Mark G Lebwohl","doi":"10.1093/ced/llae245","DOIUrl":"https://doi.org/10.1093/ced/llae245","url":null,"abstract":"<p><strong>Background: </strong>In Germany, several biologic therapies are available for the treatment of moderate-to-severe plaque psoriasis, with the option of exceeding recommended dosages if standard dosing does not achieve a satisfactory treatment response.</p><p><strong>Objectives: </strong>To examine dose escalation in patients with biologic-treated psoriasis and associated cost development for German statutory health insurance (SHI).</p><p><strong>Methods: </strong>We conducted a retrospective, non-interventional cohort study using German SHI health claims data from 2016 to 2021. Adult patients initiating biologic treatment were included in drug-specific cohorts. The odds for dose escalation, defined as the exceedance of the individually received daily dose over the maintenance dose recommended by the European product information, was compared between cohorts using multivariate logistic regression. The impact of dose escalation on SHI expenditures was analyzed with a generalized linear model.</p><p><strong>Results: </strong>The relative frequency of dose escalation varied between cohorts (range 1.1% [risankizumab] to 42.9% [infliximab]). Compared to risankizumab-treated patients, the odds for dose escalation were statistically significantly (p < 0.05) higher in patients treated with all other biologic drugs except tildrakizumab. Patients with dose escalation during the maintenance phase accrued on average €6,473 more in direct healthcare costs to the SHI over a one-year period compared to those without dose escalation, with statistical significance (p < 0.05) after controlling for differences in covariates.</p><p><strong>Conclusions: </strong>Compared to patients treated with other biologics, dose escalation during the maintenance phase was lowest among risankizumab-treated patients. Dose escalation was associated with higher costs and thus a higher economic burden for the German SHI.</p>","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":null,"pages":null},"PeriodicalIF":3.7,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975168","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}

{"title":"Successful treatment of prurigo nodularis with upadacitinib.","authors":"Gianluca Avallone, Andrea Bombelli, Davide Termini, Alessandra Chiei-Gallo, Francesca Barei, Angelo V Marzano, Silvia M Ferrucci","doi":"10.1093/ced/llae329","DOIUrl":"https://doi.org/10.1093/ced/llae329","url":null,"abstract":"","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":null,"pages":null},"PeriodicalIF":3.7,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975172","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}

{"title":"Revealing patient characteristics and treatment outcomes in ultra-long biologic users for psoriasis.","authors":"Nikki F T Henckens, Marisol E Otero, Juul M P A van den Reek, Elke M G J de Jong, Romy R M C Keijsers","doi":"10.1093/ced/llae333","DOIUrl":"https://doi.org/10.1093/ced/llae333","url":null,"abstract":"<p><strong>Background: </strong>Biologics are effective for psoriasis, but little is known regarding patients treated with one biologic for an \"ultra-long\" duration.</p><p><strong>Objective: </strong>To explore the prevalence, patient and treatment characteristics and treatment outcomes of \"ultra-long users\" of biologics for psoriasis.</p><p><strong>Methods: </strong>From the prospective, multicenter BioCAPTURE cohort, patients with psoriasis who received continuous treatment with the same biologic for ≥10 years were included. Baseline characteristics of these \"ultra-long users\" were determined and compared to the total BioCAPTURE population. Additionally, the frequency of concomitant systemic treatment use and dose adjustments administered, the trajectory of Psoriasis Area and Severity Index (PASI) scores, and drug survival rates beyond 10 years were analysed.</p><p><strong>Results: </strong>In BioCAPTURE, 30.5% of the patients with the potential to reach a treatment episode of ≥10 years achieved this treatment duration. These patients were treated with ustekinumab, etanercept, adalimumab and infliximab. The proportion of ultra-long users was highest for ustekinumab (37%). The ultra-long user cohort had a slightly longer disease duration at registry entry, and higher proportion of males and patients diagnosed with PsA, compared to the total BioCAPTURE population. A large percentage of ultra-long users (69.5%) had ≥1 comorbidities and 66% used no additional systemic antipsoriatic therapy. Dose adjustments were often applied, varying from dose escalation (30%), dose reduction (41%), or both (14%); only 16% consistently used the standard dose. The median PASI course for ultra-long users from month 6 onwards was continuously <3, with only a small proportion achieving complete clearance of their psoriasis (3.9-13.7% at the various time points). Drug survival beyond 10 years showed >60% was still treated with the same biologic after 15 years.</p><p><strong>Conclusion: </strong>Ultra-long use of the same biologic in patients with psoriasis was common in real-world practice, but varied between biologics. The median PASI was around 2.5 throughout the 10-year treatment course; complete clearance was often not reached. Remarkably, ultra-long use was reached also in patients having multiple comorbidities (including PsA) and a variety of dose adjustments of the biologics was applied. These results provide clinicians with important evidence on ultra-long biological treatment, thereby improving psoriasis care and management of treatment expectations.</p>","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":null,"pages":null},"PeriodicalIF":3.7,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975171","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}

{"title":"Treatment of hidradenitis suppurativa with adalimumab in the PIONEER I and II trials reduced indices of systemic inflammation, recognised risk factors for cardiovascular disease.","authors":"Niamh Kearney, Xin Chen, Yingtao Bi, Kinjal Hew, Kathleen M Smith, Brian Kirby","doi":"10.1093/ced/llae324","DOIUrl":"https://doi.org/10.1093/ced/llae324","url":null,"abstract":"<p><strong>Background: </strong>Hidradenitis suppurativa (HS) is associated with increased cardiovascular disease (CVD) risk. Systemic immune inflammation index (SII), neutrophil/lymphocyte (NLR), platelet/lymphocyte (PLR) and monocyte/lymphocyte ratios (MLR) are biomarkers of systemic inflammation and CVD. One small study identified a lower NLR and PLR in patients treated with adalimumab.</p><p><strong>Objectives: </strong>Our aim was to assess changes in SII, NLR, PLR and MLR in a larger cohort, and to evaluate their association with disease severity and treatment response.</p><p><strong>Methods: </strong>This was a post-hoc analysis of PIONEER I and PIONEER II, two phase 3 randomised placebo-controlled clinical trials of adalimumab for HS. SII, NLR, PLR and MLR were log10-transformed and linear mixed model was used to estimate treatment effect.</p><p><strong>Results: </strong>SII, NLR, PLR and MLR reduced from baseline levels with adalimumab treatment by week 12, when the primary response endpoint was assessed. Significant changes first appeared at week 4 and were maintained to week 36. In contrast, no significant changes were observed in placebo-treated patients. In patients re-randomised at week 12 from placebo to adalimumab, SII, NLR, PLR and MLR also reduced within 4 weeks. In patients re-randomised from adalimumab to placebo, these biomarkers returned to baseline by week 36. In addition, SII, NLR and PLR correlated with draining fistula count (r=0.26-0.43, p<0.001). Adalimumab non-responders in PIONEER I had a higher SII, NLR and PLR at baseline and week 12, but this was not significant when adjusted for draining fistulae.</p><p><strong>Conclusions: </strong>Treatment of HS patients with adalimumab results in rapid sustained reduction in systemic inflammation measured by SII, NLR, PLR and MLR which correlate with CVD risk. SII, NLR and PLR may predict adalimumab response, although dependent on their interaction with the number of draining fistulae.</p>","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":null,"pages":null},"PeriodicalIF":3.7,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141981789","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}

{"title":"Molecular profiling of an Indian EB cohort - a single centre experience.","authors":"Anoop Kumar, Manu Jamwal, Smriti Gupta, Ritika Sharma, Namrata Singh, Laveena Kaushal, Sahil Kumar, Vinod Kumar, Biswanath Behera, Dipankar De, Sanjeev Handa, Uma Nahar, Debajyoti Chatterjee, Reena Das, Rahul Mahajan","doi":"10.1093/ced/llae325","DOIUrl":"https://doi.org/10.1093/ced/llae325","url":null,"abstract":"<p><strong>Introduction: </strong>Epidermolysis bullosa (EB) encompasses rare hereditary skin conditions marked by skin fragility, nail dystrophy, and minor trauma-induced skin blisters. This study aims to identify genetic variants in Indian EB patients and examine the relationship between genotypic and phenotypic manifestations.</p><p><strong>Material and method: </strong>EB patients seen consecutively over a period of 5 years at Outpatient Department of Dermatology. Baseline demographic data, birth history, family history, skin manifestation at birth, past medical history, current cutaneous manifestations, and the evolution of the disease were assessed and recorded. Genetic variants were identified using targeted gene panel sequencing of 23 EB-related genes, and a genetic-phenotype analysis was performed.</p><p><strong>Results: </strong>Our study included 65 patients with EB. Among 65 EB patients, 38 dystrophic EB cases (58.46%), 12 junctional EB (18.46%), 12 epidermolysis bullosa simplex (18.46%), and 3 Kindler EB (4.62%) were reported. Dominant and recessive forms of dystrophic EB accounted for 16.92% and 41.4%, respectively. We identified 75 unique genetic variants, 58.67% newly discovered and 41.33% previously reported. Compound heterozygous variations were more frequent (55.55%) than homozygous ones (44.44%) in recessive dystrophic EB patients. Junctional EB patients harboured LAMB3 gene mutations more frequently, while epidermolysis bullosa simplex patients showed KRT5 and KRT14 gene missense heterozygous mutations. Kindler EB patients had homozygous mutations in the FERTM1 gene.</p><p><strong>Conclusion: </strong>Our study unveiled several novel genetic variants; severe phenotypes associated with nonsense genetic variants. These findings offer valuable insights for future clinical assessments and tailored management strategies.</p>","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":null,"pages":null},"PeriodicalIF":3.7,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141981858","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}