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The Journal of dermatology最新文献

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Comparing the severity of epidermolysis bullosa simplex harboring KRT5 variants with the AlphaMissense score. 将携带 KRT5 变体的单纯表皮松解症的严重程度与 AlphaMissense 评分进行比较。
The Journal of dermatology Pub Date : 2024-10-10 DOI: 10.1111/1346-8138.17488
Michiya Omi, Takuya Takeichi, Takenori Yoshikawa, Yuki Inoue, Ryo Fukaura, Ikumi Hattori, Yuka Nakazawa, Tatsuhiro Noda, Yoshinao Muro, Masashi Akiyama
{"title":"Comparing the severity of epidermolysis bullosa simplex harboring KRT5 variants with the AlphaMissense score.","authors":"Michiya Omi, Takuya Takeichi, Takenori Yoshikawa, Yuki Inoue, Ryo Fukaura, Ikumi Hattori, Yuka Nakazawa, Tatsuhiro Noda, Yoshinao Muro, Masashi Akiyama","doi":"10.1111/1346-8138.17488","DOIUrl":"https://doi.org/10.1111/1346-8138.17488","url":null,"abstract":"","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":"142484765","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}
引用次数: 0
Successful treatment of Bothnian-type palmoplantar keratoderma using the etretinate and goreisan combination. 使用依曲替酯和戈瑞散联合疗法成功治疗了双年型掌跖角化症。
The Journal of dermatology Pub Date : 2024-10-09 DOI: 10.1111/1346-8138.17394
Tomoko Oshimo, Ryoko Hamada, Chie Ono, Kazuyoshi Fukai, Eijiro Akasaka, Daisuke Tsuruta
{"title":"Successful treatment of Bothnian-type palmoplantar keratoderma using the etretinate and goreisan combination.","authors":"Tomoko Oshimo, Ryoko Hamada, Chie Ono, Kazuyoshi Fukai, Eijiro Akasaka, Daisuke Tsuruta","doi":"10.1111/1346-8138.17394","DOIUrl":"https://doi.org/10.1111/1346-8138.17394","url":null,"abstract":"","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142396482","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}
引用次数: 0
A case of peeling skin syndrome type 1 with novel CDSN gene variation successfully treated with upadacitinib. 一例伴有新型 CDSN 基因变异的 1 型脱皮综合征患者成功接受了达达替尼治疗。
The Journal of dermatology Pub Date : 2024-10-08 DOI: 10.1111/1346-8138.17489
Yusha Chen, Jia Geng, Yue Xiao, Xingli Zhou, Mengmeng Li, Wei Li
{"title":"A case of peeling skin syndrome type 1 with novel CDSN gene variation successfully treated with upadacitinib.","authors":"Yusha Chen, Jia Geng, Yue Xiao, Xingli Zhou, Mengmeng Li, Wei Li","doi":"10.1111/1346-8138.17489","DOIUrl":"https://doi.org/10.1111/1346-8138.17489","url":null,"abstract":"<p><p>Peeling skin syndrome type 1 (PSS1) is an autosomal recessive genodermatosis caused by the CDSN gene loss-of-function mutation and characterized by widespread superficial skin peeling and erythroderma with unbearable pruritus. Because of its ultra-rarity and unclear mechanism, this rare disease has no established treatment regimen. Herein, we reported a Chinese woman who presented with congenital generalized pruritic erythroderma and exfoliation, notable for significantly elevated IgE levels. The whole exome sequencing identified an unpublished homozygous variant (c.295C>T, p.Gln99*) in the CDSN gene, confirming the diagnosis of PSS1. Immunohistochemistry analysis of the affected skin confirmed the lack of corneodesmosin expression, revealed the overexpression of T helper 2 (Th2)-related cytokines harboring interleukin (IL) 4 and IL-13. After Janus kinase 1 (JAK1) inhibitor upadacitinib administration, both the patient's skin rashes and itching symptoms were significantly alleviated. Our work expanded the PSS1-related CDSN gene mutation spectrums, substantiated the hypothesis regarding the overexpression of Th2-related cytokines, and uncovered the important role of JAK1 underlying PSS1. JAK1 signaling may dominate the pathogenesis in PSS1 and represent a potential therapeutic target.</p>","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142396481","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}
引用次数: 0
A case of revertant mosaic-like normal-looking spots in a patient with erythroderma with IL36RN and CARD14 heterozygous mutations. 一例因 IL36RN 和 CARD14 基因杂合突变而患红斑狼疮的患者身上出现了马赛克样正常外观的还原斑。
The Journal of dermatology Pub Date : 2024-10-07 DOI: 10.1111/1346-8138.17498
Maho Matsuo, Xiaoyu Zang, Toshinari Miyauchi, Yoko Mizutani, Hirofumi Niwa, Kayoko Tanaka, Hiroaki Iwata
{"title":"A case of revertant mosaic-like normal-looking spots in a patient with erythroderma with IL36RN and CARD14 heterozygous mutations.","authors":"Maho Matsuo, Xiaoyu Zang, Toshinari Miyauchi, Yoko Mizutani, Hirofumi Niwa, Kayoko Tanaka, Hiroaki Iwata","doi":"10.1111/1346-8138.17498","DOIUrl":"10.1111/1346-8138.17498","url":null,"abstract":"<p><p>An 89-year-old Japanese woman presented with erythroderma associated with significant scaling. A histological examination showed acanthosis with hyperkeratosis and hyperkeratinization of the hair follicles. Genetic analyses using DNA from the peripheral blood revealed heterozygous mutations in IL36RN (c.115+6T>C) and CARD14 c.2648G>A (p.Arg883His). Based on these findings, we diagnosed her with erythroderma attributable to autoinflammatory keratinization disease. She then developed more than 30 small, round, well-defined, spots on her back and extremities that appeared histologically normal. We suspected that these spots might be revertant mosaicism. Immunohistochemical staining with p65, which is a component of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kB), revealed nuclear staining in epidermal keratinocytes in erythematous lesions, but not in the normal-looking spots. However, mutations in IL36RN and CARD14 unexpectedly persisted in the epidermis and dermis of the normal-looking spots.</p>","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142383134","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}
引用次数: 0
Detection of human papillomavirus in plantar warts and its impact on outcome. 跖疣中人类乳头瘤病毒的检测及其对结果的影响。
The Journal of dermatology Pub Date : 2024-10-07 DOI: 10.1111/1346-8138.17497
Akira Shimizu, Kosaka Mieko, Kayoko Yamaguchi, Osamu Niwa, Yasuhito Ishigaki, Masaru Sakurai
{"title":"Detection of human papillomavirus in plantar warts and its impact on outcome.","authors":"Akira Shimizu, Kosaka Mieko, Kayoko Yamaguchi, Osamu Niwa, Yasuhito Ishigaki, Masaru Sakurai","doi":"10.1111/1346-8138.17497","DOIUrl":"https://doi.org/10.1111/1346-8138.17497","url":null,"abstract":"<p><p>Cutaneous warts are caused by human papillomavirus (HPV) infection. Distinguishing plantar warts from clavus and tylosis can be difficult. A less-invasive method of examining these lesions is necessary. Previously, we collected data on 90 patients with warts and related diseases to explore differentiation methods using HPV typing of tissue from the wart surface. In that study, 21 patients were diagnosed as cases with plantar warts, however, 10 of those 21 cases showed HPV-negative by polymerase chain reaction analysis, causing some ambiguity, thus their outcomes should be confirmed. To assess the role of HPV typing in clinical practice, we followed up these 21 cases (11 HPV-positive and 10 HPV-negative) and analyzed their outcomes. The HPV-positive group included HPV1a (one case), HPV27 (four cases), HPV57 (three cases), and HPV65 (three cases). The median age of the 21 patients was 43 years, that of the 11 HPV-positive cases was 37 years, and that of the 10 HPV-negative cases was 44 years. The sex ratios (male:female) of the HPV-positive and HPV-negative groups were 6:5 and 2:8, respectively. All 21 patients were treated with liquid nitrogen after surface keratin removal, concomitant with salicylic acid topical plaster or oral administration of Yokuinin. The longest follow-up period was 548 days. Kaplan-Meier analysis was performed to assess the healing rate according to HPV-positivity. The healing rate in HPV-positive cases was significantly higher than in HPV-negative cases (P = 0.001). Although the sample size was small, the results suggest HPV typing using non-invasive surface materials facilitates accurate diagnosis and prevents prolonged treatment of plantar warts.</p>","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142383135","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}
引用次数: 0
Effective management of coexisting bullous pemphigoid and psoriasis with bimekizumab. 使用双美珠单抗有效治疗同时存在的大疱性类天疱疮和银屑病。
The Journal of dermatology Pub Date : 2024-10-03 DOI: 10.1111/1346-8138.17490
Ken Okamura, Toru Saito, Yosuke Arai, Hajime Suto, Tamio Suzuki
{"title":"Effective management of coexisting bullous pemphigoid and psoriasis with bimekizumab.","authors":"Ken Okamura, Toru Saito, Yosuke Arai, Hajime Suto, Tamio Suzuki","doi":"10.1111/1346-8138.17490","DOIUrl":"https://doi.org/10.1111/1346-8138.17490","url":null,"abstract":"","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142368120","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}
引用次数: 0
Clinical and genetic insights into ABCA12 variants in three Chinese families with ichthyosis: Genotype-phenotype correlation. 三个中国鱼鳞病家族中 ABCA12 变异的临床和遗传学研究：基因型与表型的相关性
The Journal of dermatology Pub Date : 2024-10-03 DOI: 10.1111/1346-8138.17484
Bing Wang, Jinxiang Yang, Yumeng Wang, Fuh-Miin Liang, Zhirong Yao, Jiawen Chen, Jianying Liang
{"title":"Clinical and genetic insights into ABCA12 variants in three Chinese families with ichthyosis: Genotype-phenotype correlation.","authors":"Bing Wang, Jinxiang Yang, Yumeng Wang, Fuh-Miin Liang, Zhirong Yao, Jiawen Chen, Jianying Liang","doi":"10.1111/1346-8138.17484","DOIUrl":"10.1111/1346-8138.17484","url":null,"abstract":"<p><p>Autosomal recessive congenital ichthyosis (ARCI) comprises a series of non-syndromic ichthyoses. Pathogenic variants in several genes associated with ARCI have so far been identified. Notably, the variants in ABCA12 play a pivotal role in the pathology of ARCI. In this study, we report three Chinese families with compound heterozygous variants in the ABCA12 gene, including two novel variants and four reported variants. Clinical and genetic analyses were conducted to explore the genotype-phenotype correlation among the patients. Immunohistochemistry and transcriptome sequencing were utilized to assess the impact of pathogenic ABCA12 variants on skin homeostasis, revealing decreased levels of ABCA12 and claudin-1, alongside increased levels of involucrin and S100A8. In conclusion, our findings contribute to updating the genotype-phenotypic correlation and provide additional evidence for the long-term use of retinoic acid drugs in patients with causative ABCA12 variants.</p>","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142368119","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}
引用次数: 0
Association between nail psoriasis and obesity: A cross-sectional study at a single institution. 指甲银屑病与肥胖的关系：在一家机构进行的横断面研究。
The Journal of dermatology Pub Date : 2024-09-30 DOI: 10.1111/1346-8138.17481
Sota Itamoto, Hajime Miyazawa, Ken Natsuga, Misako Yamaga, Hiroaki Iwata, Mika Watanabe, Hideyuki Ujiie
{"title":"Association between nail psoriasis and obesity: A cross-sectional study at a single institution.","authors":"Sota Itamoto, Hajime Miyazawa, Ken Natsuga, Misako Yamaga, Hiroaki Iwata, Mika Watanabe, Hideyuki Ujiie","doi":"10.1111/1346-8138.17481","DOIUrl":"https://doi.org/10.1111/1346-8138.17481","url":null,"abstract":"","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335578","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}
引用次数: 0
Two cases of lichen planus pigmentosus inversus improved by topical tacrolimus application and the avoidance of tight clothing. 两例色素沉着性扁平苔藓复发病例通过局部使用他克莫司和避免穿紧身衣改善了病情。
The Journal of dermatology Pub Date : 2024-09-30 DOI: 10.1111/1346-8138.17485
Sayaka Suzuki, Natsumi Hama, Risa Suzuki, Akihiko Yuki, Atsuko Aizawa, Atsushi Fujimoto, Sumiko Takatsuka, Chigaya Shimada, Riichiro Abe
{"title":"Two cases of lichen planus pigmentosus inversus improved by topical tacrolimus application and the avoidance of tight clothing.","authors":"Sayaka Suzuki, Natsumi Hama, Risa Suzuki, Akihiko Yuki, Atsuko Aizawa, Atsushi Fujimoto, Sumiko Takatsuka, Chigaya Shimada, Riichiro Abe","doi":"10.1111/1346-8138.17485","DOIUrl":"https://doi.org/10.1111/1346-8138.17485","url":null,"abstract":"","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335586","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}
引用次数: 0
A case of familial Mediterranean fever complicated by IgA vasculitis and psoriasis vulgaris. 一例家族性地中海热并发 IgA 血管炎和寻常型银屑病。
The Journal of dermatology Pub Date : 2024-09-30 DOI: 10.1111/1346-8138.17470
Takako Tsukamoto, Yohei Iwata, Naoki Ohmiya, Kazumitu Sugiura
{"title":"A case of familial Mediterranean fever complicated by IgA vasculitis and psoriasis vulgaris.","authors":"Takako Tsukamoto, Yohei Iwata, Naoki Ohmiya, Kazumitu Sugiura","doi":"10.1111/1346-8138.17470","DOIUrl":"https://doi.org/10.1111/1346-8138.17470","url":null,"abstract":"","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335574","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}
引用次数: 0
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