Journal of Dermatology最新文献

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A new era for understanding and managing common pruritic skin conditions: How to define, diagnose, and treat? 了解和管理常见瘙痒性皮肤状况的新时代:如何定义、诊断和治疗?
IF 2.9 3区 医学
Journal of Dermatology Pub Date : 2024-12-12 DOI: 10.1111/1346-8138.17574
Takahiro Satoh
{"title":"A new era for understanding and managing common pruritic skin conditions: How to define, diagnose, and treat?","authors":"Takahiro Satoh","doi":"10.1111/1346-8138.17574","DOIUrl":"10.1111/1346-8138.17574","url":null,"abstract":"<p>The treatment of inflammatory skin diseases is entering a new era. The advent of biologics and small-molecule agents has facilitated the therapy of some of the previously difficult-to-treat skin conditions. However, there are still several pruritic skin conditions that many dermatologists find difficult to manage. Understanding the precise clinical features and actual pathological mechanisms of these diseases is essential for the development and appropriate use of new therapies. This special issue of the <i>Journal of Dermatology</i> focuses on three common pruritic skin diseases.</p><p>Eczema is the most common and well-known pruritic disease in dermatology. However, how many dermatologists fully understand the exact nature of eczema and its characteristics? In this special issue, Tokura et al. discuss the nature of eczema. They explain the etymology and classic concept of eczema, including the ‘eczema triangle’. They also discuss the pathological mechanisms of eczema based on the current understanding of cutaneous immunology.</p><p>While we have recently gained powerful therapeutic tools for treating chronic inflammatory skin conditions, such as atopic dermatitis and psoriasis, erythroderma in the elderly remains difficult to treat. In general, the diagnosis of erythroderma is relatively straightforward. Nevertheless, despite careful examinations, it is often difficult to determine the actual cause of the disease. Yamamoto explains the concept, clinical characteristics, and pathogenesis of erythroderma in the elderly, and the difference between elderly erythroderma and elderly atopic dermatitis.</p><p>Research into itching has lagged far behind that into pain, and, for a long time, antihistamines have dominated the treatment of itching associated with skin diseases. However, recent advances in the study of itch have provided us with a wealth of knowledge about nonhistaminergic itch. In this issue, Hashimoto et al. describe the latest findings on the pathophysiology of itch. They also explain the mechanisms of generalized and localized pruritus without rash and how we can manage these conditions.</p><p>The review articles in this issue will undoubtfully help dermatologists to better understand, diagnose, and manage these common pruritic skin conditions.</p>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 2","pages":"191"},"PeriodicalIF":2.9,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/1346-8138.17574","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142815415","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
Practical guide for the diagnosis and treatment of localized and generalized cutaneous pruritus (chronic itch with no underlying pruritic dermatosis) 局限性和全身性皮肤瘙痒症(无瘙痒性皮肤病的慢性瘙痒)的诊断和治疗实用指南。
IF 2.9 3区 医学
Journal of Dermatology Pub Date : 2024-12-12 DOI: 10.1111/1346-8138.17565
Takashi Hashimoto, Satoshi Okuno
{"title":"Practical guide for the diagnosis and treatment of localized and generalized cutaneous pruritus (chronic itch with no underlying pruritic dermatosis)","authors":"Takashi Hashimoto,&nbsp;Satoshi Okuno","doi":"10.1111/1346-8138.17565","DOIUrl":"10.1111/1346-8138.17565","url":null,"abstract":"<p>Itch, also known as pruritus, is one of the most prevalent symptoms observed in dermatological practices. Itch frequently arises from primary pruritic dermatoses, although it may also manifest in the absence of a primary pruritic skin rash. The latter itchy condition is referred to as “cutaneous pruritus” in the Japanese guidelines published in 2020. Cutaneous pruritus can be classified into two categories based on its distribution: localized cutaneous pruritus and generalized cutaneous pruritus. Localized cutaneous pruritus is indicative of a neuropathic cause, whereas generalized cutaneous pruritus suggests underlying systemic disease(s), drug-induced itch, psychogenic itch (also known as functional itch disorder), or chronic pruritus of unknown origin (CPUO). Systemic diseases associated with cutaneous pruritus include disorders of iron metabolism, chronic kidney disease, chronic liver disease (especially cholestasis), endocrine/metabolic diseases, hematological disorders, and malignant solid tumors. CPUO is a term used to describe chronic itch that is often generalized and for which no underlying cause can be identified despite a comprehensive and careful diagnostic workup. A variety of treatment approaches are available for cutaneous pruritus, including device-based physical therapies (such as phototherapy) and medications that act on the itch-perception processing pathway from the skin, peripheral sensory nerves, the spinal cord, to the brain. This review presents an overview of the current knowledge regarding cutaneous pruritus, from its underlying pathophysiologic mechanisms to the diagnostic procedures and treatment approaches that are currently available.</p>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 2","pages":"204-220"},"PeriodicalIF":2.9,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/1346-8138.17565","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142815423","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
Deucravacitinib in Japanese patients with plaque, generalized pustular, or erythrodermic psoriasis: Patient-reported outcomes in the POETYK PSO-4 study Deucravacitinib治疗日本斑块、广泛性脓疱或红皮病型银屑病患者:POETYK PSO-4研究中患者报告的结果
IF 2.9 3区 医学
Journal of Dermatology Pub Date : 2024-12-06 DOI: 10.1111/1346-8138.17570
Yayoi Tada, April W. Armstrong, Shinichi Imafuku, Yukari Okubo, Akimichi Morita, Yichen Zhong, Joe Zhuo, Brandon Becker, Andrew Napoli, Subhashis Banerjee, Mamitaro Ohtsuki
{"title":"Deucravacitinib in Japanese patients with plaque, generalized pustular, or erythrodermic psoriasis: Patient-reported outcomes in the POETYK PSO-4 study","authors":"Yayoi Tada,&nbsp;April W. Armstrong,&nbsp;Shinichi Imafuku,&nbsp;Yukari Okubo,&nbsp;Akimichi Morita,&nbsp;Yichen Zhong,&nbsp;Joe Zhuo,&nbsp;Brandon Becker,&nbsp;Andrew Napoli,&nbsp;Subhashis Banerjee,&nbsp;Mamitaro Ohtsuki","doi":"10.1111/1346-8138.17570","DOIUrl":"10.1111/1346-8138.17570","url":null,"abstract":"<p>Deucravacitinib, an oral, selective, allosteric tyrosine kinase 2 inhibitor, is approved in Japan for adult patients with plaque, generalized pustular, or erythrodermic psoriasis. POETYK PSO-4 (NCT03924427), an open-label, single-arm, phase 3 trial, showed that deucravacitinib was effective and well tolerated in Japanese patients with plaque (<i>n</i> = 63), generalized pustular (<i>n</i> = 3), or erythrodermic (<i>n</i> = 8) psoriasis. Additional end points in POETYK PSO-4 included change measured by the patient-reported outcome measures Psoriasis Symptoms and Signs Diary and Dermatology Life Quality Index. Mean changes from baseline in score on each measure and the response rate for achieving Dermatology Life Quality Index scores of 0 or 1 were assessed in each patient group over 52 weeks. All assessments were reported as observed, without imputation, in the as-treated population. Each group reported week 16 score improvements from baseline for both patient-reported outcome measures that were maintained or numerically improved at week 52. At week 52, approximately two-thirds of patients in each group achieved a Dermatology Life Quality Index score of 0 or 1, indicating no impact of disease on quality of life. These results demonstrate improvements in psoriasis symptoms and signs and in quality of life with deucravacitinib treatment in Japanese patients with plaque, generalized pustular, or erythrodermic psoriasis. The small number of patients with generalized pustular or erythrodermic psoriasis limits the generalized interpretability of the findings in these groups.</p>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 2","pages":"353-358"},"PeriodicalIF":2.9,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/1346-8138.17570","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142788191","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
Safety and effectiveness of secukinumab subcutaneous injection in Japanese patients with psoriasis vulgaris and psoriatic arthritis: A post-marketing surveillance 日本寻常型银屑病和银屑病关节炎患者皮下注射secukinumab的安全性和有效性:上市后监测
IF 2.9 3区 医学
Journal of Dermatology Pub Date : 2024-11-29 DOI: 10.1111/1346-8138.17499
Ayako Fujishige, Noriko Seko
{"title":"Safety and effectiveness of secukinumab subcutaneous injection in Japanese patients with psoriasis vulgaris and psoriatic arthritis: A post-marketing surveillance","authors":"Ayako Fujishige,&nbsp;Noriko Seko","doi":"10.1111/1346-8138.17499","DOIUrl":"10.1111/1346-8138.17499","url":null,"abstract":"<p>Secukinumab is the first human monoclonal antibody that targets human interleukin-17A. This open-label, multicenter, uncontrolled, single-arm, prospective observational surveillance evaluated the long-term safety and effectiveness of secukinumab in patients with psoriasis vulgaris and psoriatic arthritis (PsA) in Japan. Of 997 patients whose surveillance forms were collected, 976 were included in the safety analysis and 729 in the effectiveness analysis. Prior to the start of secukinumab treatment, biologics were used in 42.52% of patients for the treatment of conditions including psoriasis. The mean ± standard deviation (SD) duration of secukinumab administration was 288.1 ± 106.51 days and the median (range) was 344.0 (1–365) days. The most commonly used dose per administration was 300 mg in 96.21% (939 patients) and the mean ± SD total number of administrations was 13.6 ± 3.87. Adverse events (AEs), AEs suspected to be related to secukinumab, AEs that led to secukinumab treatment discontinuation, serious AEs, and deaths were reported in 36.17%, 18.85%, 8.09%, 5.84%, and 1.13%, respectively. The proportion of patients with an Investigator's Global Assessment score improvement to 0/1 increased over time from the start of secukinumab treatment to week 24 and remained stable thereafter. The Psoriasis Area and Severity Index 75 response rates and the proportions of patients with a Dermatology Life Quality Index score of 0/1 increased from baseline and were maintained up to week 52. This surveillance did not show any new safety concerns of secukinumab treatment. The effectiveness of secukinumab treatment was observed in patients with psoriasis vulgaris and PsA.</p>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 1","pages":"11-23"},"PeriodicalIF":2.9,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/1346-8138.17499","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752816","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
Cutaneous zosteriform endometrial cancer metastasis 皮肤带状子宫内膜癌转移。
IF 2.9 3区 医学
Journal of Dermatology Pub Date : 2024-11-27 DOI: 10.1111/1346-8138.17536
Wangxiang Luo, Xianhong Yang, Yunlin Ren, Xiaohua Tao, Wei Lu
{"title":"Cutaneous zosteriform endometrial cancer metastasis","authors":"Wangxiang Luo,&nbsp;Xianhong Yang,&nbsp;Yunlin Ren,&nbsp;Xiaohua Tao,&nbsp;Wei Lu","doi":"10.1111/1346-8138.17536","DOIUrl":"10.1111/1346-8138.17536","url":null,"abstract":"<p>A 58-year-old woman sought care for painful skin papules and blisters on her right lower extremity, ongoing for a month. Initially diagnosed with herpes zoster, she received no relief from famciclovir or acyclovir treatments. The lesions spread to her thighs, manifesting as itchy, tingling spots. With a history of poorly differentiated endometrial cancer for 11 years, she had undergone radical surgery and multiple chemotherapy regimens. Systemic examination revealed left cervical lymph node enlargement. Skin inspection showed swelling and redness with bumps on her right lower leg and left thigh base (referenced in Figure 1a,b). A thigh biopsy showed tumor cells arrayed among dermal collagen in various sizes with intense chromatin and clear nuclear division (referenced in Figure 1c,d). The dermal collagen was markedly sclerotic with few inflammatory cells. Immunohistochemistry was positive for P53, EMA, and PAX8, and D2-40 staining indicated lymphatic infiltration by tumor cells. She was diagnosed with cutaneous metastasis from poorly differentiated endometrial adenocarcinoma.</p><p>Cutaneous metastasis from carcinoma is a rare event in the spread of cancer, seen in 0.7%–9% of metastatic cases. It is even rarer in endometrial cancer, with an incidence of less than 0.8%.<span><sup>1</sup></span> Zosteriform metastasis in skin cancer is a rare phenomenon linked to malignancies such as lung, breast, and gastric cancers, and melanoma. It typically manifests in a band-like pattern, often associated with pain, indicating disease progression and correlating with the primary tumor's location.<span><sup>2</sup></span></p><p>In this case, the patient was diagnosed with endometrial cancer. When skin metastasis was subsequently discovered, the patient had already entered the late stage of malignant tumor treatment, with a poor prognosis. Therefore, when patients with pre-existing endometrial cancer suddenly present with new skin lesions, such as shingles, they need to be alert to the possibility of skin metastasis.</p><p>None declared.</p>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 1","pages":"e1-e2"},"PeriodicalIF":2.9,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/1346-8138.17536","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142741727","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
Correction to “Automatic evaluation of nail psoriasis severity index using deep learning algorithm” 对 "利用深度学习算法自动评估指甲银屑病严重程度指数 "的更正。
IF 2.9 3区 医学
Journal of Dermatology Pub Date : 2024-11-26 DOI: 10.1111/1346-8138.17556
{"title":"Correction to “Automatic evaluation of nail psoriasis severity index using deep learning algorithm”","authors":"","doi":"10.1111/1346-8138.17556","DOIUrl":"10.1111/1346-8138.17556","url":null,"abstract":"<p>Paik K, Kim BR, Youn SW. Automatic evaluation of nail psoriasis severity index using deep learning algorithm. <i>J Dermatol</i> 2024 Oct;51:1310–1317.</p><p>We apologize for this error.</p>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 1","pages":"187"},"PeriodicalIF":2.9,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/1346-8138.17556","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142735489","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
Educational video assistance in shared decision-making for psoriasis: Effectiveness and outcomes 银屑病共同决策中的教育视频辅助:效果和结果。
IF 2.9 3区 医学
Journal of Dermatology Pub Date : 2024-11-25 DOI: 10.1111/1346-8138.17550
Sheng-Wen Liu, Shou En Wu, Yi-Hsien Chen, Chen-Yeu Soong, Chien-Ping Chiang, Wei-Ming Wang, Chih-Tsung Hung
{"title":"Educational video assistance in shared decision-making for psoriasis: Effectiveness and outcomes","authors":"Sheng-Wen Liu,&nbsp;Shou En Wu,&nbsp;Yi-Hsien Chen,&nbsp;Chen-Yeu Soong,&nbsp;Chien-Ping Chiang,&nbsp;Wei-Ming Wang,&nbsp;Chih-Tsung Hung","doi":"10.1111/1346-8138.17550","DOIUrl":"10.1111/1346-8138.17550","url":null,"abstract":"<p>Psoriasis is a chronic inflammatory skin condition associated with significant comorbidities that impact quality of life. Effective patient engagement through shared decision-making (SDM) is crucial for optimal management. This study aimed to evaluate the effectiveness of adding clinician-created educational videos in enhancing patient knowledge and engagement during SDM for psoriasis treatment. Forty-eight patients with moderate to severe psoriasis participated in this single-center study. After reading an educational pamphlet, patients took a knowledge assessment test. Subsequently, they watched an educational video and completed a second test using the same questions. Feedback questionnaires on the video and the SDM process were also administered. Paired <i>t</i> tests revealed that postpamphlet plus video test scores (mean ± SD: 86.25 ± 17.58) were significantly higher than postpamphlet scores (72.08 ± 26.33, <i>p</i> &lt; 0.0001). Older patients, in particular, showed greater improvement in comprehension after watching the video. Descriptive analysis of the feedback questionnaire on the video indicated strong agreement (average score: 4.240 ± 0.816 on a five-point Likert scale) regarding its greater effectiveness compared with the pamphlet in aiding SDM. Patients also rated the video-assisted SDM process positively (average score: 4.521 ± 0.5443 on a five-point Likert scale), highlighting increased trust and improved communication with healthcare providers. These findings underscore the value of video-assisted SDM in patient education and decision-making processes, potentially improving treatment outcomes and patient satisfaction in dermatologic care.</p>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 2","pages":"337-343"},"PeriodicalIF":2.9,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142718017","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
Cutaneous lupus erythematosus following immunoglobulin therapy in dermatomyositis 皮肌炎患者接受免疫球蛋白治疗后出现皮肤红斑狼疮。
IF 2.9 3区 医学
Journal of Dermatology Pub Date : 2024-11-25 DOI: 10.1111/1346-8138.17553
Eaman Alhassan, Stratos Christianakis, Brittney DeClerck, Ashley B. Crew
{"title":"Cutaneous lupus erythematosus following immunoglobulin therapy in dermatomyositis","authors":"Eaman Alhassan,&nbsp;Stratos Christianakis,&nbsp;Brittney DeClerck,&nbsp;Ashley B. Crew","doi":"10.1111/1346-8138.17553","DOIUrl":"10.1111/1346-8138.17553","url":null,"abstract":"<p>A 57-year-old woman with a remote history of follicular lymphoma in remission, treated with rituximab with subsequent diagnosis of hypogammaglobulinemia, presented to the Rheumatology-Dermatology clinic for evaluation of an autoimmune disease. The patient reported experiencing rash, myalgias, and proximal muscle weakness for 3 months. Physical examination was remarkable for poikiloderma over the neck and chest (V-sign), upper back (shawl sign), upper arms (sleeve sign), and lateral thighs (Holster sign). She had normal muscle strength. Laboratory work-up demonstrated normal complete blood count, comprehensive metabolic panel, creatine kinase, and aldolase levels. A myositis-specific antibody panel and antinuclear antibody tests were negative. The patient was diagnosed with amyopathic dermatomyositis. Because of her lymphoma history and skin-predominant presentation, intravenous immunoglobulin (Ig) therapy was administered. Three days after receiving the Ig therapy, the patient developed distinct, well-defined, violaceous, juicy appearing plaques on her face, chest, abdomen (Figure 1a), back (Figure 1b), and arms. Ig therapy was held. Skin biopsy of the new lesions showed interface dermatitis (Figure 1c) with increased dermal mucin and karyorrhectic debris consistent with discoid lupus erythematosus. Oral and topical corticosteroids were added with improvement in her skin lesions (Figure 1d).</p><p>A causative link between Ig G treatment and cutaneous lupus erythematosus has been reported in patients receiving Ig treatment for chronic inflammatory demyelinating polyneuropathy.<span><sup>1, 2</sup></span> The rash has been reported to improve after discontinuing Ig treatment or switching to another Ig brand. Van der Molen et al. reported the possible presence of Sjögren's-syndrome-related antigen (SSA) antibodies in Ig preparations.<span><sup>3</sup></span> While the mechanism of induction of cutaneous lupus erythematosus in patients being treated with Ig therapy is not well understood, one hypothesis is that the presence of SSA antibodies in Ig therapy may induce cutaneous lupus in a manner similar to cutaneous changes in neonatal lupus.</p><p>The authors declare no conflict of interest related to this work.</p>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 2","pages":"e143-e144"},"PeriodicalIF":2.9,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/1346-8138.17553","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717972","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
Variations in RASA1 and EPHB4 in Chinese patients with capillary malformation-arteriovenous malformation 中国毛细血管畸形-动静脉畸形患者中 RASA1 和 EPHB4 的变异。
IF 2.9 3区 医学
Journal of Dermatology Pub Date : 2024-11-22 DOI: 10.1111/1346-8138.17549
Qin Zeng, Wenmin Lu, Ying Ye, Ming Li, Hongsong Ge, Qiaoyu Cao, Wei He, Cheng Zhang, Wei Song
{"title":"Variations in RASA1 and EPHB4 in Chinese patients with capillary malformation-arteriovenous malformation","authors":"Qin Zeng,&nbsp;Wenmin Lu,&nbsp;Ying Ye,&nbsp;Ming Li,&nbsp;Hongsong Ge,&nbsp;Qiaoyu Cao,&nbsp;Wei He,&nbsp;Cheng Zhang,&nbsp;Wei Song","doi":"10.1111/1346-8138.17549","DOIUrl":"10.1111/1346-8138.17549","url":null,"abstract":"<p>Capillary malformation-arteriovenous malformation (CM-AVM) is a genetic condition predominantly attributed to variations in the <i>RASA1</i> or <i>EPHB4</i> genes. We identified three genetic variations: a variation in the RASA1 (c.2603+1G&gt;A) and two novel variations in the EPHB4 (c.53-2A&gt;G and c.2222T&gt;C), expanding the spectrum of variants associated with CM-AVM. Additionally, we found that the presence of EPHB4 variations in these two families, alongside a documented history of Bier spots, highlights the impact of genetic factors on disease phenotype. We also conducted 595 nm pulsed dye laser therapy on the proband 2, and observed that facial telangiectasia was significantly reduced after the laser treatment. We aim to enhance the understanding of the disease through case studies of three families.</p>","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 2","pages":"377-382"},"PeriodicalIF":2.9,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142694081","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 case of notalgia paresthetica presenting as an ulcer successfully treated with gabapentin 一例以溃疡为表现的痛觉神经痛患者成功接受了加巴喷丁治疗。
IF 2.9 3区 医学
Journal of Dermatology Pub Date : 2024-11-22 DOI: 10.1111/1346-8138.17558
Cheney Jianlin Wong, Harumi Ochi, Wei Liang Koh
{"title":"A case of notalgia paresthetica presenting as an ulcer successfully treated with gabapentin","authors":"Cheney Jianlin Wong,&nbsp;Harumi Ochi,&nbsp;Wei Liang Koh","doi":"10.1111/1346-8138.17558","DOIUrl":"10.1111/1346-8138.17558","url":null,"abstract":"","PeriodicalId":54848,"journal":{"name":"Journal of Dermatology","volume":"52 1","pages":"e3-e4"},"PeriodicalIF":2.9,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142694077","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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