Journal of Dermatology最新文献

{"title":"A Missense Variant Within the Helix Termination Motif of KRT71 Causes Autosomal Dominant Woolly Hair/Hypotrichosis in a Chinese Family","authors":"Xi Chen,&nbsp;Zhenzhen Wang,&nbsp;Xiaoxian Li,&nbsp;Guoyan Liu","doi":"10.1111/1346-8138.17896","DOIUrl":"https://doi.org/10.1111/1346-8138.17896","url":null,"abstract":"<div>\u0000 \u0000 <p>Previous studies in dogs, cats, mice, and rats have established that <i>KRT71</i> polymorphisms cause curly/wavy coat phenotypes. In humans, variants in the helix initiation motif of <i>KRT71</i> are associated with woolly hair, a rare hereditary hair shaft disorder. Here, we report a novel heterozygous missense variant (c.1295A&gt;G:p.Tyr432Cys, NM_033448.3) within the helix termination motif of <i>KRT71</i> segregating with autosomal dominant woolly hair (ADWH) in a Chinese family. Sanger sequencing confirmed complete co-segregation of this variant with the disease phenotype. This finding extends the genotypic and phenotypic spectrum of ADWH.</p>\u0000 </div>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 10","pages":"1603-1607"},"PeriodicalIF":2.7,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145296936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Burden of Erythropoietic Protoporphyria (EPP): Results From the EPP Life Impact and Genetic Health Trajectory (LIGHT) Study","authors":"Hetanshi Naik,&nbsp;Manisha Balwani,&nbsp;Hilary H. Colwell,&nbsp;Susan D. Mathias,&nbsp;Kristen Wheeden,&nbsp;Chelsea Norregaard,&nbsp;Melanie Chin,&nbsp;William Savage","doi":"10.1111/1346-8138.17897","DOIUrl":"10.1111/1346-8138.17897","url":null,"abstract":"<div>\u0000 \u0000 <p>Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare metabolic disorders causing phototoxicity, potential liver damage, and significant burden in all facets of life. We sought to quantify symptoms, health-related quality of life (HRQoL), work/school productivity, and healthcare utilization (HCU) of individuals with protoporphyria using the EPP Life Impact and Genetic Health Trajectory (LIGHT) study. A cross-sectional, online questionnaire administered to 164 adults and 33 adolescents with protoporphyria aged ≥ 12 years, included validated patient-reported outcome measures and original items assessing symptoms, HRQoL, productivity, and HCU. Prodromal (early warning) symptoms after sunlight exposure, reported by &gt; 50% of participants, included tingling, warmth, itching, sensitivity to touch, and burning; symptoms occurred in ≤ 10 min in 48.8% of adults and 15.2% of adolescents. Symptoms hindered daily activities at least “somewhat” for 62.8% of adults and 87.9% of adolescents, and 23.4% - 41.7% reported school/work absenteeism in past month; 67.1% of adults and 87.9% of adolescents experienced ≥ 1 phototoxic reaction in the previous 12 months. Most adults and adolescents reported feeling depressed (75.0%, 45.5%), anxious (79.9%, 60.6%), isolated (82.9%, 57.6%), frustrated (90.2%, 93.9%), and lonely (75.6%, 39.4%). Fifty-four percent (53.7%; adults) and 16.7% (adolescents) reported work productivity was affected by their EPP at least “a little bit.” Adults had a mean number of eight physician visits related to EPP in the previous 12 months, and adolescents had a mean number of 3.2 visits. Adults averaged 5.5 emergency room visits annually. Protoporphyria significantly affects daily life through symptoms, emotional/psychological distress, and HCU.</p>\u0000 </div>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 10","pages":"1576-1583"},"PeriodicalIF":2.7,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144805481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-Term Impact of Guselkumab on Skin, Sexuality, and Perceived Stigmatization in Patients With Psoriasis in Routine Clinical Practice: Week 76 Effectiveness and Safety Results From the Prospective German Multicenter G-EPOSS Study","authors":"Sascha Gerdes,&nbsp;Peter Weisenseel,&nbsp;Durdana Groß,&nbsp;Rolf Ostendorf,&nbsp;Sebastian Zimmer,&nbsp;Adriana Otto,&nbsp;Friedemann J. H. Taut,&nbsp;Judita Makuc,&nbsp;Simmy Jacobsen,&nbsp;Nina Trenkler,&nbsp;Juliane Behrens,&nbsp;Dariusch Mortazawi","doi":"10.1111/1346-8138.17866","DOIUrl":"10.1111/1346-8138.17866","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Background&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;G-EPOSS is a prospective, non-interventional, German multicenter study evaluating the effects of guselkumab, an interleukin-23 inhibitor, in patients with moderate-to-severe plaque psoriasis in real-world clinical practice.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;To evaluate the effectiveness of guselkumab in psoriasis and its impact on quality of life (QoL), sexual impairment, and perceived stigmatization.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Adult patients received guselkumab according to routine clinical practice. Primary endpoint (Psoriasis Area and Severity Index [PASI] ≤ 3 at week [W]28) data are published. Secondary endpoints over 76 weeks include PASI, Nail Psoriasis Severity Index (NAPSI), anogenital Physician's Global Assessment (aPGA), Dermatology Life Quality Index (DLQI), Relationship and Sexuality Scale (RSS), Perceived Stigmatization Questionnaire (PSQ), Patient Benefit Index (PBI), and drug survival assessments. Outcomes were evaluated in the overall population and subgroups defined by body mass index (BMI), age, disease duration, sex, anogenital psoriasis, depression, and super-response to guselkumab (PASI = 0 at W20 and W28).&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;A total of 295 patients were included in these analyses. Baseline mean disease duration, PASI, and aPGA scores were 17.4 years, 15.3, and 2.7, respectively. In total, 26.4% of patients had received prior biologic therapy. At W76, 87.5% of patients achieved PASI ≤ 3, and 47.3% achieved PASI = 0; response rates were higher with shorter disease duration. Overall, 18.3% of patients were super-responders. Among patients with NAPSI ≥ 1 or aPGA ≥ 1 at baseline, NAPSI = 0 and aPGA = 0 were achieved by 52.2% and 75.8% of patients at W76, respectively. A high aPGA = 0 response rate was observed in all BMI subgroups. Improvements were observed through W76 across individual items of the DLQI, RSS, and PSQ and across all subgroups evaluated. A shorter disease duration was associated with additional benefit for some outcomes. At W76, PBI &gt; 3 was documented for 88.1% of patients, and the probability of drug survival was 88.7%. No new safety signals were detected.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusions&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Guselkumab treatment provided sustained improvements over 76 weeks in psoriasis, sexual impairment, QoL, and perceived stigmatization, irrespective of BMI, age, disease duration, sex, presence of anogenital psor","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 9","pages":"1368-1381"},"PeriodicalIF":2.7,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/1346-8138.17866","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144805480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spontaneous Regression of Cutaneous Angiosarcoma: A Case Report","authors":"Masakazu Kakurai,&nbsp;Takumi Akashi,&nbsp;Yoshihiro Moriyama","doi":"10.1111/1346-8138.17903","DOIUrl":"10.1111/1346-8138.17903","url":null,"abstract":"","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 10","pages":"e947-e949"},"PeriodicalIF":2.7,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144801395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Bullous Pemphigoid in a Patient With Systemic Sarcoidosis and Relapsing Polychondritis","authors":"Takehiro Nakamura,&nbsp;Toshiyuki Yamamoto","doi":"10.1111/1346-8138.17849","DOIUrl":"10.1111/1346-8138.17849","url":null,"abstract":"","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 9","pages":"e849-e850"},"PeriodicalIF":2.7,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144801394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diffuse Large B-Cell Lymphoma Arising in Mycosis Fungoides With Large-Cell Transformation","authors":"Emi Yamazaki,&nbsp;Taku Fujimura,&nbsp;Yumi Kambayashi,&nbsp;Ryo Amagai,&nbsp;Kenta Oka,&nbsp;Yoko Yahagi,&nbsp;Erika Tamabuchi,&nbsp;Ryo Nakagawa,&nbsp;Noriko Fukuhara,&nbsp;Yoshihide Asano","doi":"10.1111/1346-8138.17902","DOIUrl":"10.1111/1346-8138.17902","url":null,"abstract":"","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 10","pages":"e944-e946"},"PeriodicalIF":2.7,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144796594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Familial Cases of Aicardi-Goutières Syndrome Presenting With Cutaneous Manifestations of Facial Lipodystrophy and Puffy Digits","authors":"Yuka Hanami,&nbsp;Takehiro Nakamura,&nbsp;Kinuko Irie,&nbsp;Hiroyuki Mishima,&nbsp;Akira Kinoshita,&nbsp;Koh-Ichiro Yoshiura,&nbsp;Nobuo Kanazawa,&nbsp;Toshiyuki Yamamoto","doi":"10.1111/1346-8138.17898","DOIUrl":"10.1111/1346-8138.17898","url":null,"abstract":"","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 10","pages":"e940-e941"},"PeriodicalIF":2.7,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144796595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to “Perceived Stigma Among Adults With Alopecia Areata in the United States”","authors":"","doi":"10.1111/1346-8138.17904","DOIUrl":"10.1111/1346-8138.17904","url":null,"abstract":"<p>G. Gauthier, K. A. Hanson, H. Tran, et al., “Perceived Stigma Among Adults With Alopecia Areata in the United States,” <i>Journal of Dermatology</i> 52, no. 7 (2025): 1185–1191, https://doi.org/10.1111/1346-8138.17786.</p><p>We apologize for this error.</p>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 9","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/1346-8138.17904","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144796593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Signal Detection of Drug–Drug Interactions Between Topical Vitamin D3 Analogs and Oral Thiazide Diuretics in Hypercalcemia: Analysis of the Japanese Drug Event Report Database","authors":"Akio Inoue,&nbsp;Yuki Kondo,&nbsp;Satoko Tsuruhashi,&nbsp;Yuka Sakazaki,&nbsp;Tetsumi Irie,&nbsp;Yoichi Ishitsuka","doi":"10.1111/1346-8138.17889","DOIUrl":"https://doi.org/10.1111/1346-8138.17889","url":null,"abstract":"<div>\u0000 \u0000 <p>Topical vitamin D3 analogs are commonly used to treat psoriasis and are known to cause hypercalcemia. However, whether concomitant use of thiazide diuretics increases this risk remains unclear. We evaluated the association between hypercalcemia and the concomitant use of thiazide diuretics in patients receiving topical vitamin D3 analogs, using reports from the Japanese Adverse Drug Event Report database. Additionally, we explored potential factors associated with hypercalcemia among topical vitamin D3 analogs users. We analyzed reports submitted between April 2004 and November 2024. Reporting odds ratios were calculated to assess hypercalcemia signals, and multivariate logistic regression was performed to identify associated factors. Positive signals were detected for topical vitamin D3 analogs alone and their concomitant use with thiazide diuretics. Age ≥ 70 years, concomitant use of thiazide or loop diuretics, and chronic kidney disease were identified as factors associated with increased reporting of hypercalcemia. These findings suggest a possible drug–drug interaction between topical vitamin D3 analogs and oral thiazide diuretics in the development of hypercalcemia. Although further studies are warranted, clinicians should consider monitoring for the development of hypercalcemia when prescribing topical vitamin D3 analogs to patients taking thiazide diuretics or those with these associated factors.</p>\u0000 </div>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 10","pages":"1593-1597"},"PeriodicalIF":2.7,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145297091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum Anti-Drug Antibodies in Psoriasis Patients Undergoing Biologic Therapy in Real-World Clinical Practice: A Single-Center Retrospective Study","authors":"Hiroyoshi Nozaki,&nbsp;Masaru Honma,&nbsp;Mari Kishibe,&nbsp;Yasuyuki Fujita","doi":"10.1111/1346-8138.17894","DOIUrl":"https://doi.org/10.1111/1346-8138.17894","url":null,"abstract":"<div>\u0000 \u0000 <p>Biologics are essential for treating psoriasis; however, secondary failure, often due to the development of anti-drug antibodies, is a significant concern. This study aimed to evaluate the relationship between secondary failure and the production of anti-drug antibodies in a real-world setting. Serum levels of anti-adalimumab and anti-secukinumab antibodies were measured using a commercial enzyme-linked immunosorbent assay (ELISA) kit. A retrospective analysis was conducted on 85 patients with psoriasis, focusing on cases in which dermatologists identified secondary failure during biologic therapy. In the adalimumab group, eight patients were identified as having secondary failure. Among them, two showed high titers of anti-drug antibodies, and one showed a low titer. In the secukinumab group, four cases were judged to have secondary failure, but none had elevated antibody titers. The results of this study indicate that the mechanisms underlying secondary failure in real-world settings may vary depending on the drug. The secondary failure of adalimumab, a drug with high immunogenicity, is primarily attributed to the production of anti-drug antibodies. In contrast, for secukinumab, which has low immunogenicity, extending the dosing interval may lead to reduced serum drug levels and an increased risk of secondary failure.</p>\u0000 </div>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 10","pages":"1598-1602"},"PeriodicalIF":2.7,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145297113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}