The Journal of dermatology最新文献

{"title":"Biallelic pathogenic variants in the LSS gene cause congenital alopecia-cataract syndrome.","authors":"Yusha Chen, Shengyu Xie, Jia Geng, Zhongtao Li, Yuan Yang, Sheng Wang","doi":"10.1111/1346-8138.17514","DOIUrl":"10.1111/1346-8138.17514","url":null,"abstract":"<p><p>Biallelic variants in the LSS gene have been reported in individuals affected by alopecia-intellectual disability syndrome 4, cataract 44, hypotrichosis 14, and palmoplantar keratoderma-congenital alopecia syndrome type 2. The present report described a Chinese girl with congenital alopecia universalis, cataract, esotropia, and nystagmus caused by compound heterozygous variants of c.1025T>G (p.Ile342Ser) and previously unreported c.1011G>A (p.Pro337=) in the LSS gene. Minigene assay confirmed the synonymous variant Pro337= at the edge of exon 9 could produce a novel splice site, leading to a 46-bp insertion of the 5' sequence of the intron 9, likely resulting in a frameshift effect. We consider that the clinical manifestations of this case represent a new type of LSS-related disease, namely congenital alopecia-cataract syndrome (CACS). Our data expand the phenotypic and genetic spectrum of LSS-related diseases.</p>","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142484763","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":"A case of crateriform verruca on the right sole without human papilloma virus detection.","authors":"Yu Nishimura, Hiroyuki Goto, Azusa Ogita, Kazushi Anzawa, Akira Shimizu, Daisuke Tsuruta","doi":"10.1111/1346-8138.17508","DOIUrl":"https://doi.org/10.1111/1346-8138.17508","url":null,"abstract":"","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142484761","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":"Oral administration of ruxolitinib in psoriasis vulgaris: A case report of plaque psoriasis accompanied by myelofibrosis secondary to polisitemia vera successfully treated with oral ruxolitinib.","authors":"Tubanur Çetinarslan, İsmet Aydoğdu, Aylin Türel Ermertcan","doi":"10.1111/1346-8138.17510","DOIUrl":"https://doi.org/10.1111/1346-8138.17510","url":null,"abstract":"<p><p>Psoriasis is a chronic inflammatory skin disease characterized by keratinocyte hyperproliferation and immune cell infiltration. Various therapies have been discovered for psoriasis, including topical treatments, phototherapy, conventional systemic agents such as methotrexate, retinoids and ciclosporine, as well as biologics. Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway inhibitors targeting Tumor Necrosis Factor alpha (TNF-α), interleukin (IL)-23 and IL-17 can be effective in psoriasis. Ruxolitinib is a US Food and Drug Administration-approved first-generation Janus kinase inhibitor for polycythemia vera, myelofibrosis, and acute graft-versus-host disease. Ruxolitinib cream has been investigated in various dermatologic diseases, including atopic dermatitis, vitiligo, psoriasis, and alopecia areata. However, there is limited data on the efficacy of oral ruxolitinib in patients with psoriasis vulgaris. Here, we report a patient diagnosed with myelofibrosis coexisting with psoriasis vulgaris, successfully treated with oral ruxolitinib.</p>","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142484768","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":"Serum interleukin-10 level is increased and correlated positively with disease severity in patients with dipeptidyl peptidase-4 inhibitor-related bullous pemphigoid.","authors":"Shoya Suzuki, Masahiro Kamata, Hideaki Uchida, Teruo Shimizu, Yoshiki Okada, Makoto Ito, Ayu Watanabe, Itsumi Mizukawa, Shota Egawa, Chika Chijiwa, Azusa Hiura, Saki Fukaya, Kotaro Hayashi, Atsuko Fukuyasu, Takamitsu Tanaka, Takeko Ishikawa, Yayoi Tada","doi":"10.1111/1346-8138.17512","DOIUrl":"https://doi.org/10.1111/1346-8138.17512","url":null,"abstract":"<p><p>Bullous pemphigoid (BP) is an autoimmune subepidermal blistering disease with a linear deposit of autoantibodies at the epidermal basement membrane zone. It was reported that diabetes patients who took a dipeptidyl peptidase-4 inhibitor (DPP4i), an oral antidiabetic drug, had an increased incidence of BP. However, data on DPP4i-related BP are limited. In our study, we measured serum levels of various cytokines using LEGENDplex and assessed correlations of these serum levels with clinical severity and laboratory data. Serum samples obtained from BP patients who visited our hospital from June 2016 to February 2023 were collected in this study. Patients' background, characteristics, and clinical data were retrospectively collected from their charts. Serum samples from 27 patients with DPP4i-unrelated BP, 17 patients with DPP4i-related BP, and 13 healthy controls were analyzed. Patients with DPP4i-related BP had lower score of Bullous Pemphigoid Disease Area Index (BPDAI)-erythema/urticaria, lower number of circulating eosinophils, and lower titer of anti-BP180 antibody than patients with DPP4i-unrelated BP. The serum interleukin (IL)-6 level was significantly higher in patients with DPP4i-related BP than in healthy controls (P = 0.0037). The serum IL-10 level was significantly higher in patients with DPP4i-related BP than in patients with DPP4i-unrelated BP and in healthy controls (P = 0.0006, P = 0.0448), and was positively correlated with the BPDAI-blister/erosions score (r = 0.757, P = 0.001), BPDAI-erythema/urticaria score (r = 0.616, P = 0.013), and BPDAI-total score (r = 0.833, P < 0.001) in patients with DPP4i-related BP. In conclusion, patients with DPP4i-related BP had increased serum levels of IL-6 and IL-10 compared with healthy controls and positive correlations between the serum IL-10 level and BPDAI scores reflecting clinical severity, indicating that the serum IL-10 level is a potential objective biomarker of disease severity in patients with DPP4i-related BP.</p>","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142484770","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":"Postoperative continuous compression bandaging was a useful technique for improving pseudosyndactyly in recessive dystrophic epidermolysis bullosa patients.","authors":"Kosuke Mochida, Yukiyo Narita, Masahiro Amano","doi":"10.1111/1346-8138.17509","DOIUrl":"https://doi.org/10.1111/1346-8138.17509","url":null,"abstract":"","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142484769","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":"Exploring racial and ethnic disparities in the hidradenitis suppurativa patient disease journey: Results from a real-world study in Europe and the USA.","authors":"Tarannum Jaleel, Beth Mitchell, Russel Burge, Andrea Cohee, Hayley Wallinger, Isabel Truman, Aaron Keal, Chloe Middleton-Dalby, Sophie Barlow, Dipak Patel","doi":"10.1111/1346-8138.17386","DOIUrl":"https://doi.org/10.1111/1346-8138.17386","url":null,"abstract":"<p><p>Hidradenitis suppurativa (HS) is an inflammatory skin disease associated with high morbidity and disability that has limited treatment options. People from racial and ethnic minority groups may experience greater disease severity and delay to diagnosis. This study assessed the impact of race/ethnicity on HS diagnosis and management in real-world clinical settings. Data were derived from the Adelphi Real World Hidradenitis Suppurativa Disease Specific Programme, a survey of dermatologists and their consulting HS patients in five European countries and the USA in 2020/2021. Dermatologists returned demographic and clinical data, and treatment goals and satisfaction for their next five to seven consulting patients. Patients completed a questionnaire on disease history and diagnosis, disease burden, and treatment satisfaction. Groups were compared with bivariate tests. In total, 312 physicians returned data on 1787 patients; 57.6% were female and 77.7% White. People from racial and ethnic minority groups were younger than White patients (32.9 ± 11.6 vs. 34.9 ± 12.4, mean ± standard deviation) and reported symptoms at a younger age (23.3 ± 10.8 vs. 26.2 ± 11.1), but their time to first consultation was longer than for White patients (2.6 ± 5.7 vs. 1.2 ± 2.5 years). People from racial and ethnic minority groups took longer to receive a correct diagnosis following first consultation (2.7 ± 5.3 vs. 1.5 ± 4.1 years) and were more likely to be misdiagnosed with boils (73.5% vs. 40.4%). People from racial and ethnic minority groups had a greater disease awareness at diagnosis and reported wanting greater support. People from racial and ethnic minority groups reported a greater impact on life, more severe pain, and a greater level of activity impairment in the Work Productivity and Activity Impairment: General Health (27.0 ± 25.2 vs. 20.0 ± 20.6). All P values were ≤0.05. These data show evidence of delayed diagnosis and higher HS symptom burden amongst people from racial and ethnic minority groups, highlighting health disparities in HS.</p>","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142484766","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":"Long-term outcomes of intravenous corticosteroid pulse therapy for rapidly progressive alopecia areata: A single-center retrospective analysis of 106 cases and usefulness evaluation of a scoring system originally designed for half-year efficacy prediction for extended periods.","authors":"Masahiro Fukuyama, Misaki Kinoshita-Ise, Manabu Ohyama","doi":"10.1111/1346-8138.17506","DOIUrl":"https://doi.org/10.1111/1346-8138.17506","url":null,"abstract":"<p><p>Intravenous corticosteroid pulse therapy (IVPT) has been preferentially conducted for rapidly progressive alopecia areata (RP-AA); however, the evaluation of long-term outcomes has been insufficient. In this study, 106 IVPT-treated RP-AA patients (36 males and 70 females) who were followed up for more than 1 year and up to 6.8 years were retrospectively analyzed. The mean observation period was 1137.8 ± 587.9 days (range 380-2490). The mean severity of alopecia tool (SALT) score before IVPT was 21.3 ± 23.4 but whole-scalp hair loss was observed in all cases after the intervention, suggesting that IVPT was performed soon after the onset. With additional interventions represented by intralesional triamcinolone acetonide injection with or without topical potent corticosteroid for those who insufficiently responded at 6 months after IVPT, 64.2%, 14.2%, and 21.7% of the patients respectively achieved good response (GR; SALT score ≤25), moderate response (MR; 25 < SALT score <75), and poor response (PR; 75 ≤ SALT score) 1 year after IVPT. On the final evaluation, the proportions of patients with GR, MR, and PR were 79 (74.5%), 7 (6.6%), and 20 (18.9%). Sixteen patients achieved and maintained full hair regrowth with IVPT alone until the end of observation. A previously reported scoring system for the short-term outcome prediction was shown to be useful for distinguishing the final-point GR responders from PR responders (P = 0.003). Of note, 21 patients were found to have some symptoms suggestive of the existence of preceding infectious diseases and tended to relapse. The revised scoring system adding the absence of preceding infectious diseases as one factor successfully predicted the occurrence of the relapse in our cohort (P = 0.002). Taken together, previously unreported real-world efficacy of IVPT to RP-AA was elucidated with the invention of a tool putatively enabling optimal long-term management.</p>","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142484767","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":"The first Japanese case of intractable tinea corporis caused by Trichophyton indotineae.","authors":"Satoshi Takeuchi, Yu Ishikura, Masakazu Takahara, Rui Kano, Takeshi Nakahara","doi":"10.1111/1346-8138.17501","DOIUrl":"https://doi.org/10.1111/1346-8138.17501","url":null,"abstract":"","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142402565","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":"Clinical inertia in onychomycosis treatment: results from the Illuminating Dialogues and Insights in Onychomycosis Management (IDIOM) survey.","authors":"Yuichiro Tsunemi, Atsushi Otsuka, Yusuke Nonaka","doi":"10.1111/1346-8138.17495","DOIUrl":"https://doi.org/10.1111/1346-8138.17495","url":null,"abstract":"<p><p>Onychomycosis is a fungal infection of the nail that can serve as a reservoir for tinea infections in other parts of the body and can be transmitted to other individuals. As the disease progresses, it can lead to functional impairment, such as difficulties in walking, and negatively impact the psychosocial aspects of quality of life. Onychomycosis treatment, especially topical, is long-term, and adequate follow-up is essential for cure. However, the realities and issues of patient-physician communication after treatment initiation, including patients' perception of efficacy, treatment satisfaction, and reconsideration of the treatment approach, remain unclear. Therefore, this study aimed to examine the realities and issues associated with onychomycosis treatment, focusing on topical therapies, through a web-based survey of patients with onychomycosis and dermatologists. The duration of topical treatment was prolonged, with 30.5% of patients undergoing topical therapy for more than 2 years. Of these, 54.5% had not perceived clear efficacy. In addition, 93.7% of all patients with onychomycosis expressed a desire to change their treatment if it was ineffective. However, only 29.9% of patients receiving topical treatment discussed changing their treatment with their physicians, and only 7.3% ultimately changed their treatment. These findings indicate that the review of treatment strategies was insufficient. Furthermore, the satisfaction rate among patients treated with oral medications was higher than that of patients treated with topical medication. Despite dermatologists' awareness of low patient satisfaction with topical treatments, approximately 40% recommended alternative topical therapies when the initial topical treatment was ineffective. These results suggest clinical inertia in the treatment of onychomycosis stemming from a lack of appropriate intensification of treatment. In managing onychomycosis, the patient and dermatologist must share a common understanding of the importance of regular evaluation and the optimization of treatment regimens during treatment and must work side by side toward a cure.</p>","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142402549","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":"Asia-Pacific consensus recommendations on the management of generalized pustular psoriasis.","authors":"Siew Eng Choon, Peter Anthony Foley, Pravit Asawanonda, Hideki Fujita, Seong-Jin Jo, Yu-Ling Shi, Colin Theng, Azura Mohd Affandi, Chul Hwan Bang, Maria Lorna Frez, Huang Yu Huei, Doanh Le Huu, Tae-Gyun Kim, Akimichi Morita, Hazel H Oon, Pablo Fernández-Peñas, Natta Rajatanavin, Suganthy Robinson, Latha Selvarajah, Tsen-Fang Tsai","doi":"10.1111/1346-8138.17471","DOIUrl":"https://doi.org/10.1111/1346-8138.17471","url":null,"abstract":"<p><p>Generalized pustular psoriasis (GPP) is a rare, chronic, heterogeneous, and potentially life-threatening disease characterized by primary, sterile, and macroscopically visible pustules with or without systemic symptoms. There are ethnic differences in the genetic mutations associated with GPP that might affect the clinical manifestations and treatment responses. Currently, there is limited evidence from the patient population in the Asia-Pacific (APAC) region, resulting in a general paucity of information on the effective management of patients with GPP in this region. This modified Delphi panel study aimed to identify current evidence and gain advanced insights to facilitate the development of a regionally tailored APAC consensus on the management of GPP. A systematic literature review (SLR) was conducted to identify published literature and develop consensus statements on (i) definition and clinical course, (ii) diagnosis of GPP, (iii) treatment outcomes, goals, and monitoring measures, and (iv) optimal management strategies and clinical practices. Statements were rated by a panel of dermatologists in two rounds, with the threshold for consensus at ≥80% agreement. Twenty experts from the APAC region reached consensus on 106 statements that were developed based on the SLR and experts' collective expertise. The experts agreed that GPP is a rare, severe, and potentially life-threatening condition that is distinct from plaque psoriasis. This consensus emphasized the importance of a tailored treatment strategy taking into account the GPP flare severity and each patient's unique clinical circumstances. The experts reached consensus on the severity classification of GPP flares and recommended first-line and maintenance treatment options for adult GPP, childhood GPP, and GPP in pregnancy. These consensus outcomes have been synthesized into treatment algorithms to guide dermatologists in the APAC region in their clinical decision-making processes.</p>","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142402548","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}