Journal of Dermatology最新文献

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Refractory Post-Zoster Eosinophilic Dermatitis of the Eyelids Successfully Treated With Mycophenolate Mofetil 霉酚酸酯成功治疗难治性带状疱疹后眼睑嗜酸性皮炎。
IF 2.7 3区 医学
Journal of Dermatology Pub Date : 2025-06-20 DOI: 10.1111/1346-8138.17833
Takahiro Hase, Yasuyuki Fujita, Kodai Miyamoto, Satoko Shimizu
{"title":"Refractory Post-Zoster Eosinophilic Dermatitis of the Eyelids Successfully Treated With Mycophenolate Mofetil","authors":"Takahiro Hase,&nbsp;Yasuyuki Fujita,&nbsp;Kodai Miyamoto,&nbsp;Satoko Shimizu","doi":"10.1111/1346-8138.17833","DOIUrl":"10.1111/1346-8138.17833","url":null,"abstract":"<div>\u0000 \u0000 <p>Post-zoster eosinophilic dermatitis is a rare skin disease caused by the infiltration of eosinophils into the dermis at the site of healed herpes zoster lesions. Since its initial report by Mitsuhashi and colleagues in 1997, there have been only 11 documented cases, predominantly among Asian patients. Most cases can be treated effectively with topical corticosteroids. We report a case of post-zoster eosinophilic dermatitis with a peculiar clinical manifestation and refractory course. A Japanese woman in her 40s presented with persistent pain and swelling of the right eyelid after treatment for herpes zoster in the right ophthalmic nerve. Histologically, the diffuse inflammatory infiltration of lymphocytes and eosinophils was noted in the entire dermis. Despite various treatments in addition to prednisolone, the symptoms did not improve for approximately 1 year. Eventually, systemic corticosteroid in addition to mycophenolate mofetil induced remission. This is first report of this combination for the treatment of post-zoster eosinophilic dermatitis. This case underscores the need for systemic therapy to treat refractory cases of post-zoster eosinophilic dermatitis, deviating from the more common topical corticosteroid therapy. The differential diagnosis of post-zoster eosinophilic dermatitis includes eosinophilic diseases such as eosinophilic pustular folliculitis, angiolymphoid hyperplasia with eosinophilia, and Kimura's disease, which require careful clinicopathologic investigation. This case adds to a new treatment option to our limited understanding of post-zoster eosinophilic dermatitis and its management.</p>\u0000 </div>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 8","pages":"1326-1329"},"PeriodicalIF":2.7,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144334746","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}
引用次数: 0
Long-Term Real-World Outcomes of Baricitinib in Severe Alopecia Areata: A 104-Week Retrospective Analysis From a Single Institute Baricitinib治疗重度斑秃的长期实际疗效:来自单个研究所的104周回顾性分析
IF 2.7 3区 医学
Journal of Dermatology Pub Date : 2025-06-20 DOI: 10.1111/1346-8138.17829
Moyuka Wada-Irimada, Takehiro Takahashi, Mana Sekine, Toshiki Okazaki, Takuya Takahashi, Tomoko Chiba, Emi Yamazaki, Kosuke Shido, Toshiya Takahashi, Masato Mizuashi, Yoshihide Asano
{"title":"Long-Term Real-World Outcomes of Baricitinib in Severe Alopecia Areata: A 104-Week Retrospective Analysis From a Single Institute","authors":"Moyuka Wada-Irimada,&nbsp;Takehiro Takahashi,&nbsp;Mana Sekine,&nbsp;Toshiki Okazaki,&nbsp;Takuya Takahashi,&nbsp;Tomoko Chiba,&nbsp;Emi Yamazaki,&nbsp;Kosuke Shido,&nbsp;Toshiya Takahashi,&nbsp;Masato Mizuashi,&nbsp;Yoshihide Asano","doi":"10.1111/1346-8138.17829","DOIUrl":"10.1111/1346-8138.17829","url":null,"abstract":"<div>\u0000 \u0000 <p>Baricitinib, a Janus kinase inhibitor, demonstrated efficacy in achieving scalp hair regrowth in severe alopecia areata (AA). While short-term real-world data on its efficacy have been reported, long-term data remain limited. This retrospective observational study spanning 104 weeks analyzed clinical trajectories of 51 severe AA patients treated with baricitinib. Among them, 36 continued treatment for 104 weeks, with 55.6% achieving a SALT score of ≤ 20 and 72.2% achieving ≥ 30% improvement from baseline in SALT score (SALT<sub>30</sub>). Multivariate analysis identified female sex and disease duration &lt; 4 years as significant predictors of response. Furthermore, patients with eyebrow or eyelash regrowth at 52 weeks had a higher likelihood of achieving long-term scalp hair regrowth. We identified a subgroup of markedly slow responders who achieved SALT<sub>30</sub> between 52 and 104 weeks, many of whom had eyebrow or eyelash regrowth at 52 weeks. Baricitinib was well tolerated throughout the study period, with no serious long-term adverse effects. Our findings supported baricitinib's long-term efficacy and safety and suggested predictive factors for treatment responses in severe AA.</p>\u0000 </div>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 8","pages":"1321-1325"},"PeriodicalIF":2.7,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144334745","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}
引用次数: 0
Successful Treatment of Refractory Twenty-Nail Dystrophy With Upadacitinib: Report of Two Cases Upadacitinib成功治疗难治性二十甲营养不良2例报告。
IF 2.7 3区 医学
Journal of Dermatology Pub Date : 2025-06-20 DOI: 10.1111/1346-8138.17830
Shuai Zhang, Jian-Bo Wang, Wei Zhang, Jin-Fa Dou, Jian-Guo Li, Hong-Wei Liu
{"title":"Successful Treatment of Refractory Twenty-Nail Dystrophy With Upadacitinib: Report of Two Cases","authors":"Shuai Zhang,&nbsp;Jian-Bo Wang,&nbsp;Wei Zhang,&nbsp;Jin-Fa Dou,&nbsp;Jian-Guo Li,&nbsp;Hong-Wei Liu","doi":"10.1111/1346-8138.17830","DOIUrl":"10.1111/1346-8138.17830","url":null,"abstract":"","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 9","pages":"ee833-ee834"},"PeriodicalIF":2.7,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144334747","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}
引用次数: 0
Surgical Excision of a Posterior Cervical Intermuscular Lipoma Using a Syringe-Assisted Suction Technique 用注射器辅助抽吸技术手术切除颈后肌间脂肪瘤。
IF 2.7 3区 医学
Journal of Dermatology Pub Date : 2025-06-19 DOI: 10.1111/1346-8138.17832
Sadao Inoue, Shigeru Koizumi, Takaya Komori, Mao Ikari, Yuri Murayama, Maiko Yamaura, Motoaki Sou, Junya Hasegawa, Ken Igawa, Yasuhiro Nakamura
{"title":"Surgical Excision of a Posterior Cervical Intermuscular Lipoma Using a Syringe-Assisted Suction Technique","authors":"Sadao Inoue,&nbsp;Shigeru Koizumi,&nbsp;Takaya Komori,&nbsp;Mao Ikari,&nbsp;Yuri Murayama,&nbsp;Maiko Yamaura,&nbsp;Motoaki Sou,&nbsp;Junya Hasegawa,&nbsp;Ken Igawa,&nbsp;Yasuhiro Nakamura","doi":"10.1111/1346-8138.17832","DOIUrl":"10.1111/1346-8138.17832","url":null,"abstract":"","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 9","pages":"e835-e836"},"PeriodicalIF":2.7,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144328302","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}
引用次数: 0
Do female patients see their physicians differently? A population-based study evaluating perception of physician communication by patients with hidradenitis suppurativa 女性患者对医生的看法不同吗?一项基于人群的研究评估化脓性汗腺炎患者对医生沟通的感知。
IF 2.7 3区 医学
Journal of Dermatology Pub Date : 2025-06-19 DOI: 10.1111/1346-8138.17699
Lucy F. Harvey, Paige Kingston, Robin Kikuchi, Artur Manasyan, Kaviyon Sadrolashrafi, Audrey Hao, Hannah Tolson, Danielle Yee, April W. Armstrong
{"title":"Do female patients see their physicians differently? A population-based study evaluating perception of physician communication by patients with hidradenitis suppurativa","authors":"Lucy F. Harvey,&nbsp;Paige Kingston,&nbsp;Robin Kikuchi,&nbsp;Artur Manasyan,&nbsp;Kaviyon Sadrolashrafi,&nbsp;Audrey Hao,&nbsp;Hannah Tolson,&nbsp;Danielle Yee,&nbsp;April W. Armstrong","doi":"10.1111/1346-8138.17699","DOIUrl":"10.1111/1346-8138.17699","url":null,"abstract":"<p>Hidradenitis suppurativa (HS) is a chronic, inflammatory skin condition that causes painful abscesses, nodules, fistulae, and fibrotic scars. Management of HS requires strong physician–patient communication; however, it is not known if male and female HS patients perceive physician communication differently. This study aimed to determine if patient-perceived quality of physician communication differs between male and female HS patients. This was a population-based, cross-sectional study using the Medical Expenditure Panel Survey from 2002 to 2015 and 2018. Linear univariate and multivariate regression analyses were used to compare male and female patients' perceptions regarding how well physicians (1) demonstrated respect (2) listened to patients, (3) explained information, and (4) spent sufficient time with patients. A total of 91,619 (weighted) HS patients aged 21–85 were included: 25,175 males (27.18%) and 66442 females (72.52%). On multivariate linear regression, compared to male patients, female patients perceived that clinicians were significantly worse at demonstrating respect (<i>ꞵ</i> = −0.231, 95% confidence interval [CI] = −0.351 to −0.111, <i>p</i> = 0.003), listening (<i>ꞵ</i> = −0.286, 95% CI = −0.391 to −0.181, <i>p</i> = 0.001), and explaining concepts (<i>ꞵ</i> = −0.133, 95% CI = −0.267 to −0.000, <i>p</i> = 0.050). Findings were adjusted for age, race, ethnicity, income, insurance, education, and medical comorbidities. Female and male patients did not differ significantly in perceptions of time spent with clinicians (<i>ꞵ</i> = −0.149, 95% CI = −0.362 to 0.064, <i>p</i> = 0.138). On subgroup analysis, both male and female patients perceived female physicians to better spend time with them compared male physicians (3.71 vs 3.32, <i>p</i> = 0.023). In conclusion, male patients with HS perceived better physician communication in regard to physician respect, listening, and explanations. Thoughtful physician communication is crucial in managing HS and may be especially important when treating female patients.</p>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 8","pages":"1263-1273"},"PeriodicalIF":2.7,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144328300","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}
引用次数: 0
Perianal Crohn's Disease Successfully Treated With Topical Ruxolitinib 局部鲁索利替尼成功治疗肛周克罗恩病。
IF 2.7 3区 医学
Journal of Dermatology Pub Date : 2025-06-18 DOI: 10.1111/1346-8138.17781
Rebeca Martinez, Marco Montoya, Steven R. Tahan, Jean S. McGee
{"title":"Perianal Crohn's Disease Successfully Treated With Topical Ruxolitinib","authors":"Rebeca Martinez,&nbsp;Marco Montoya,&nbsp;Steven R. Tahan,&nbsp;Jean S. McGee","doi":"10.1111/1346-8138.17781","DOIUrl":"10.1111/1346-8138.17781","url":null,"abstract":"","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 8","pages":"e702-e703"},"PeriodicalIF":2.7,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144328301","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}
引用次数: 0
Dermoscopic Features and Their Association With Breslow Thickness of Facial Lentigo Maligna in Koreans: A Multi-Center Retrospective Study 韩国人面部恶性黄斑的皮肤镜特征及其与乳腺厚度的关系:一项多中心回顾性研究。
IF 2.7 3区 医学
Journal of Dermatology Pub Date : 2025-06-17 DOI: 10.1111/1346-8138.17822
Jinie Lee, Ji Su Lee, Jun Young Kim, Jung Min Bae, Jin Park, Je-Ho Mun
{"title":"Dermoscopic Features and Their Association With Breslow Thickness of Facial Lentigo Maligna in Koreans: A Multi-Center Retrospective Study","authors":"Jinie Lee,&nbsp;Ji Su Lee,&nbsp;Jun Young Kim,&nbsp;Jung Min Bae,&nbsp;Jin Park,&nbsp;Je-Ho Mun","doi":"10.1111/1346-8138.17822","DOIUrl":"10.1111/1346-8138.17822","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Owing to the rarity of lentigo maligna (LM) and lentigo maligna melanoma (LMM) in East Asians, their dermoscopic features are underreported. The prognosis and management of LM and LMM depend on the Breslow thickness (BT). However, the association between BT and the dermoscopic features of LMM is largely unknown.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>To report the dermoscopic features of LM/LMM in Koreans and analyze the association between BT and dermoscopic findings of LMM.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective study included 46 patients with facial LM/LMM (32 patients had ≤ 1 mm BT and 14 had &gt; 1 mm) collected from three tertiary hospitals in Korea. The frequency of each dermoscopic feature of LM/LMM was assessed according to the BT. Logistic regression analysis was performed to investigate the association between certain dermoscopic patterns and BT in patients with LM/LMM.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Observed dermoscopic patterns in Korean patients with LM/LMM included asymmetrical pigmented follicular openings (100%), asymmetry of the overall shape (97.8%), annular–granular pattern (95.7%), dark rhomboids (95.7%), blotches (78.3%), polychromy (45.7%), blue–white veil (41.3%), thin brown network (36.4%), regression structures (19.6%), and fingerprint pattern (8.7%). Milky-red areas (32.6%), red rhomboids (26.1%), linear vessels (21.7%), arborizing vessels (8.7%), dotted vessels (2.2%), and hairpin vessels (2.2%) were also observed. Multivariable logistic regression revealed that a blue–white veil (odds ratio [OR], 42.895; 95% confidence interval [CI], 1.878–979.565), red rhomboids (OR, 13.666; 95% CI, 1.070–174.552), and linear vessels (OR, 18.823; 95% CI, 1.357–261.107) were significantly associated with LMM with a BT of &gt; 1 mm. The predictive model (range: 0–7) had a reliable diagnostic value (area under the curve = 0.964).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study provides an in-depth analysis of the dermoscopic features of LM/LMM in East Asian patients. Preoperative dermoscopy, which provides BT information, may help determine the appropriate management of LMM.</p>\u0000 </section>\u0000 </div>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 8","pages":"1243-1254"},"PeriodicalIF":2.7,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/1346-8138.17822","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144319103","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}
引用次数: 0
Missense and Inframe Pathogenic Variants in PLEC Lead to Minimal or Delayed-Onset Muscular Dystrophy in Autosomal Recessive Epidermolysis Bullosa Simplex: A Genotype–Phenotype Correlation in Nine Cases PLEC的错义和框内致病变异导致常染色体隐性单纯大疱性表皮松解症的轻微或延迟性肌营养不良:9例基因型-表型相关性
IF 2.7 3区 医学
Journal of Dermatology Pub Date : 2025-06-17 DOI: 10.1111/1346-8138.17785
Min-Chia Yang, Wei-Ting Tu, Yi-Kai Hong, Yu-Chen Lin, Ping-Chen Hou, Hsin-Yu Huang, Chyuan-Chuan Wu, Ken Natsuga, Sheau-Chiou Chao, Julia Yu-Yun Lee, John A. McGrath, Chao-Kai Hsu
{"title":"Missense and Inframe Pathogenic Variants in PLEC Lead to Minimal or Delayed-Onset Muscular Dystrophy in Autosomal Recessive Epidermolysis Bullosa Simplex: A Genotype–Phenotype Correlation in Nine Cases","authors":"Min-Chia Yang,&nbsp;Wei-Ting Tu,&nbsp;Yi-Kai Hong,&nbsp;Yu-Chen Lin,&nbsp;Ping-Chen Hou,&nbsp;Hsin-Yu Huang,&nbsp;Chyuan-Chuan Wu,&nbsp;Ken Natsuga,&nbsp;Sheau-Chiou Chao,&nbsp;Julia Yu-Yun Lee,&nbsp;John A. McGrath,&nbsp;Chao-Kai Hsu","doi":"10.1111/1346-8138.17785","DOIUrl":"10.1111/1346-8138.17785","url":null,"abstract":"<div>\u0000 \u0000 <p>Plectin (PLEC) is a versatile linker protein expressed in nearly all mammalian tissues, interlinking various components of the cytoskeleton and anchoring the hemidesmosome to the intermediate filament network of basal keratinocytes. Variants in <i>PLEC</i> disrupt its function as a linker protein, resulting in epidermolysis bullosa simplex (EBS), a hereditary skin disorder characterized by blister formation and mechanical fragility. Additionally, EBS patients with <i>PLEC</i> variants often exhibit varying degrees of muscular dystrophy. In this study, we detail the genotype, phenotype, transmission electron microscopy (TEM), and immunofluorescence microscopy (IFM) findings of nine Taiwanese EBS patients with <i>PLEC</i> variants. The patients had 13 pathogenic variants, including two missense variants and one inframe variant. Analyzing muscle involvement, TEM, and IFM findings, we determined that the presence of at least one missense or inframe pathogenic variant was correlated with milder muscular dystrophy or a later onset. Using AlphaFold, we modeled the 3D protein structures to elucidate the structural and functional implications of these pathogenic variants.</p>\u0000 </div>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 8","pages":"1274-1284"},"PeriodicalIF":2.7,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144319105","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}
引用次数: 0
Idiopathic Eruptive Macular Pigmentation Persisting for 11 Years 特发性突发性黄斑色素沉着持续11年。
IF 2.7 3区 医学
Journal of Dermatology Pub Date : 2025-06-17 DOI: 10.1111/1346-8138.17827
Ryosuke Matsumura, Reiko Kageyama, Chiaki Maruyama, Tetsuya Honda
{"title":"Idiopathic Eruptive Macular Pigmentation Persisting for 11 Years","authors":"Ryosuke Matsumura,&nbsp;Reiko Kageyama,&nbsp;Chiaki Maruyama,&nbsp;Tetsuya Honda","doi":"10.1111/1346-8138.17827","DOIUrl":"10.1111/1346-8138.17827","url":null,"abstract":"","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 9","pages":"e830-e832"},"PeriodicalIF":2.7,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144319104","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}
引用次数: 0
A Novel Missense Mutation c.690 G>C in the Fumarate Hydratase Gene Leading to the Diagnosis of FH Tumor Predisposition Syndrome 一种新的错义突变c.690富马酸水合酶基因中的g> C导致FH肿瘤易感性综合征的诊断。
IF 2.7 3区 医学
Journal of Dermatology Pub Date : 2025-06-14 DOI: 10.1111/1346-8138.17818
Akiko Fukaura, Noriyasu Sakai, Natsuko Inagaki, Toshitsugu Sato, Kazutoshi Harada
{"title":"A Novel Missense Mutation c.690 G>C in the Fumarate Hydratase Gene Leading to the Diagnosis of FH Tumor Predisposition Syndrome","authors":"Akiko Fukaura,&nbsp;Noriyasu Sakai,&nbsp;Natsuko Inagaki,&nbsp;Toshitsugu Sato,&nbsp;Kazutoshi Harada","doi":"10.1111/1346-8138.17818","DOIUrl":"10.1111/1346-8138.17818","url":null,"abstract":"","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 9","pages":"e820-e821"},"PeriodicalIF":2.7,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144295565","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}
引用次数: 0
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