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Genetic analysis and evaluation of 2% cholesterol / 2% simvastatin cream in a family with CHILD syndrome 2% 胆固醇/2% 辛伐他汀乳膏在一个 CHILD 综合征家族中的遗传分析和评估
Pub Date : 2024-01-30 DOI: 10.1097/jd9.0000000000000369
Chun-Yu Han, Xin Li, Ya-Qi Cao, Yi Zhang, Hong-Min Han, Jing Li, Xin Lyu, Jian-Wen Han
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引用次数: 0
Research advancements in the immunomodulating effect of sphingosine-1-phosphate in skin diseases 鞘氨醇-1-磷酸在皮肤病中的免疫调节作用研究进展
Pub Date : 2024-01-30 DOI: 10.1097/jd9.0000000000000370
Meilin Ding, Hongyang Li, Jingjing Xu, Kun Ren, Wei Zhang
Sphingosine-1-phosphate (S1P) is a bioactive lipid metabolite that acts as an extracellular and intracellular messenger in a variety of biological activities, many of which are mediated by binding to S1P-specific G protein-coupled receptors. S1P receptors can affect cell fate by mediating cell differentiation, proliferation, and apoptosis. S1P mainly plays an immunomodulatory role in vivo. In recent years, increasing numbers of studies have shown that S1P is involved in the occurrence and development of immune-related skin diseases by regulating keratinocyte differentiation, proliferation, and apoptosis; lymphocyte migration; and angiogenesis. This review explores the metabolism and signal transduction mechanism of S1P, focusing on research advancements in the immune regulation function of S1P and its impact on immune-related skin diseases. The aim is to provide insights that can contribute to the research and application of S1P in immune-related skin diseases.
磷脂酰肌苷-1-磷酸(S1P)是一种具有生物活性的脂质代谢物,在多种生物活动中充当细胞外和细胞内信使,其中许多活动是通过与 S1P 特异性 G 蛋白偶联受体结合来介导的。S1P 受体可通过介导细胞分化、增殖和凋亡来影响细胞的命运。S1P 在体内主要起免疫调节作用。近年来,越来越多的研究表明,S1P 通过调节角质形成细胞的分化、增殖和凋亡、淋巴细胞迁移和血管生成,参与免疫相关皮肤病的发生和发展。本综述探讨了 S1P 的代谢和信号转导机制,重点关注 S1P 免疫调节功能的研究进展及其对免疫相关皮肤病的影响。目的是为 S1P 在免疫相关皮肤病中的研究和应用提供见解。
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引用次数: 0
Comparative study of the efficacy of three versus four botulinum toxin type A injection sites to treat crow’s feet lines in Vietnamese patients: A retrospective cohort study 越南患者治疗鱼尾纹的三个与四个 A 型肉毒毒素注射部位疗效比较研究:回顾性队列研究
Pub Date : 2024-01-23 DOI: 10.1097/jd9.0000000000000368
Quang Minh Nguyen, Mai Le Thi, Hieu Duong Phuc, Ha Vu Thai, Doanh Le Huu
Botulinum toxin type A is frequently used to treat crow’s feet lines. However, the optimal dose and injection sites are still controversial. The objective of this study was to compare the efficacy of different botulinum toxin type A injection patterns for the treatment of crow’s feet. This single-center, retrospective, cohort study was conducted at the National Hospital of Dermatology. Sixty patients with crow’s feet were recruited and randomly assigned in a 1:1 ratio to receive botulinum toxin type A using either a three-point or a four-point intramuscular injection technique. The treatment efficacy was assessed based on the changes in the Crow’s Feet Grading Scale score at 1, 4 and 16 weeks after treatment. After treatment, the average Crow’s Feet Grading Scale score was significantly decreased compared with the pretreatment score at all timepoints (1, 4, and 16 weeks) in both states (dynamic and static). The average subjective patient-rated satisfaction scores after treatment were significantly higher in the four-point injection group than the three-point injection group (P=0.028). The adverse events were post-injection bruising in three patients and a feeling of eyelid tightness in three patients. Botulinum toxin type A injection is an effective treatment for crow’s feet. Adding a fourth injection maintains the same therapeutic effect and does not increase adverse effects. Patients with lower-fan crow’s feet patterns may benefit more from four-point injection therapy. However, the present findings require confirmation in studies with larger sample sizes, longer follow-up times, and different botulinum toxin type A doses.
A 型肉毒杆菌毒素常用于治疗鱼尾纹。然而,最佳剂量和注射部位仍存在争议。本研究旨在比较不同的 A 型肉毒毒素注射模式对治疗鱼尾纹的疗效。 这项单中心、回顾性、队列研究在国立皮肤病医院进行。研究人员招募了 60 名鱼尾纹患者,并按 1:1 的比例随机分配他们接受三点式或四点式肌肉注射 A 型肉毒毒素。疗效根据治疗后 1 周、4 周和 16 周的鱼尾纹评分量表得分变化进行评估。 治疗后,与治疗前相比,在所有时间点(1、4 和 16 周),两种状态(动态和静态)的鱼尾纹评分量表平均得分都有明显下降。四点注射组患者治疗后的平均主观满意度评分明显高于三点注射组(P=0.028)。不良反应为 3 名患者注射后出现瘀伤,3 名患者出现眼睑紧绷感。 A 型肉毒杆菌毒素注射是治疗鱼尾纹的有效方法。增加第四次注射可保持相同的治疗效果,且不会增加不良反应。下扇形鱼尾纹患者可能从四点注射疗法中获益更多。不过,目前的研究结果还需要样本量更大、随访时间更长、A型肉毒毒素剂量不同的研究来证实。
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引用次数: 0
Dyskeratosis congenita: beyond the triad and beyond the cause 先天性角化异常:超越三联症,超越病因
Pub Date : 2024-01-17 DOI: 10.1097/jd9.0000000000000367
Deepthi Konda, Gopi Krishna Mathurthi, Praneeth Sai Santosh Madhavarapu, V. Sakthivadivel, R. Kolavali, A. Morya
Dyskeratosis congenita (DC) is a rare genodermatosis caused by mutations in various genes encoding the proteins responsible for maintaining the telomere length. It is defined by the presence of three clinical features: nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. We herein report a typical case of DC with all three classical features along with pancytopenia, osteopenia, and epiphora but with no identifiable pathogenic mutations of DC-associated genes. Cutaneous examination revealed areas of hypopigmented and hyperpigmented macules forming a reticular pattern all over the body but mainly over the neck and upper chest, with relative sparing of the face. Skin atrophy with hypopigmentation was observed on the knuckles. The nails showed dystrophy in the form of pterygium, anonychia, and brittleness. The palms showed mild wrinkling with hypopigmented macules. Examination of the oral cavity revealed a white non-removable coating over the tongue and bilateral buccal mucosae (oral leukoplakia); the teeth were normal. Syringing of both eyes was performed by an ophthalmologist, and the patient was diagnosed with punctual stenosis (occlusion of the opening of the lacrimal canaliculus). DC is a genodermatosis caused by germline mutations in genes encoding telomerase-associated components, shelterin proteins, and other regulators of telomere length and replication. Depending upon the gene involved, the mode of inheritance can be X-linked autosomal dominant or autosomal recessive. DC is characterized by the clinical triad of abnormal skin pigmentation, dystrophic nails, and oral leukoplakia. Patients with DC are also known to develop other rare clinical features at later stages, including epiphora, early graying of the hair, premature tooth loss, enteropathy with malabsorption, immune deficiency, esophageal stricture, cardiomyopathy, liver cirrhosis, osteoporosis and avascular necrosis of the bone. Patients with DC are predisposed to the development of malignancies, especially hematological malignancies and head/neck cancer. Management of DC involves a multidisciplinary approach and includes genetic counseling of family members at risk, regular surveillance of the patient for bone marrow failure and malignancies, and treatment of the associated features and any complications. Dyskeratosis congenita (DC) is a rare genodermatosis caused by mutations in various genes encoding telomerase complex. We present a typical case of DC with all three classical features but with no pathogenic mutations of existing DC-associated genes thus raising the possibility of new unidentified genes in the pathogenesis of DC.
先天性甲营养不良症(DC)是一种罕见的遗传性皮肤病,由多种编码维持端粒长度的蛋白质的基因突变引起。它有三个临床特征:指甲营养不良、皮肤色素异常和口腔白斑。我们在此报告了一个典型的 DC 病例,该病例具有所有这三个典型特征,同时伴有泛发型、骨质疏松症和眼睑外翻,但没有发现 DC 相关基因的致病突变。 皮肤检查显示,患者全身出现色素减退和色素沉着斑,形成网状模式,但主要分布在颈部和上胸部,面部相对较少。指关节皮肤萎缩,色素减退。指甲出现翼状胬肉、无甲和脆性萎缩。手掌有轻度皱纹,并伴有色素沉着斑。口腔检查发现,舌头和双侧口腔粘膜上有一层白色不可拆卸的涂层(口腔白斑病);牙齿正常。眼科医生对患者的双眼进行了注射,诊断为点状狭窄(泪道开口闭塞)。 DC是一种基因皮肤病,由编码端粒相关成分、保护蛋白和其他端粒长度和复制调节因子的基因发生种系突变引起。根据所涉及基因的不同,遗传方式可以是 X 连锁常染色体显性遗传或常染色体隐性遗传。DC 的临床特征是皮肤色素异常、指甲萎缩和口腔白斑。据了解,DC 患者在后期还会出现其他罕见的临床特征,包括眼睑外翻、头发早白、牙齿过早脱落、吸收不良的肠病、免疫缺陷、食管狭窄、心肌病、肝硬化、骨质疏松症和骨无血管性坏死。DC 患者易患恶性肿瘤,尤其是血液恶性肿瘤和头颈癌。对先天性角化病的治疗涉及多学科方法,包括对高危家庭成员进行遗传咨询,定期监测患者是否出现骨髓衰竭和恶性肿瘤,以及治疗相关特征和任何并发症。 先天性角化不良症(DC)是一种罕见的遗传性皮肤病,由编码端粒酶复合物的多种基因突变引起。我们介绍了一个典型的先天性角化病病例,该病例具有所有三个典型特征,但现有的先天性角化病相关基因没有发生致病突变,因此在先天性角化病的发病机制中可能存在新的未发现的基因。
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引用次数: 0
Giant pilomatricoma with coexisting angiomyxoid stroma histopathology: a case report 巨型柔毛瘤并存血管肌瘤样基质组织病理学:一份病例报告
Pub Date : 2023-12-19 DOI: 10.1097/jd9.0000000000000365
Francesca Mazzarella, Bianca Maria Del Forno, Enrico Caporali, A. Costa, Vincenzo Vindigni, F. Bassetto, T. Brambullo
Pilomatricoma, also known as benign calcifying epithelioma of Malherbe, is a follicular tumor originating from cells in the hair follicle matrix. It usually manifests as a firm subcutaneous mass up to 3 cm in size. Less commonly, it may measure >5 cm and in such cases is called giant pilomatricoma. We herein present a case of a subcutaneous lesion that was characterized by aggressive biological behavior and initially thought to be malignant but subsequently found to be a rare angiomyxoid variant of giant pilomatricoma. This case involved a young, healthy woman with a rapidly growing subcutaneous lesion on the distal lateral side of her right arm. An incisional biopsy was performed, and the lesion was diagnosed as hyperplasia of the epidermis and subcutaneous tissue, likely of reactive nature. After radical excision, analysis of the entire specimen led the pathologist to diagnose a rare variant of giant pilomatricoma with angiomyxoid stroma. Classic pilomatricoma is an indolent, slow-growing lesion that is well defined and not fixed to the underlying tissue planes. However, after showing no signs of enlargement for 6 months, the lesion in the present case began to grow in a very unusual and concerning manner, suggesting a skin malignancy. The patient’s young age and the rapid development and large dimensions of the lesion led us to suspect a sarcoma. This case highlights the importance of cooperation between the dermatosurgeon and the pathologist to ensure thorough evaluation of such misleading cases. Such cooperation will guide appropriate management decisions and avoid overtreatment of benign lesions.
毛囊瘤又称马勒贝良性钙化上皮瘤,是一种起源于毛囊基质细胞的毛囊肿瘤。它通常表现为皮下坚实肿块,大小不超过 3 厘米。较少见的是,它的大小可能超过 5 厘米,在这种情况下被称为巨型毛囊瘤。我们在此介绍一例皮下病变,该病变具有侵袭性生物学行为,最初被认为是恶性的,但后来发现是一种罕见的血管肌瘤变异型巨型柔毛瘤。 该病例涉及一名年轻、健康的女性,她的右臂远外侧皮下病变生长迅速。经切口活检,病变被诊断为表皮和皮下组织增生,很可能是反应性增生。根治性切除后,病理学家对整个标本进行了分析,诊断出这是一种罕见的变异型巨大柔毛瘤,伴有血管肌瘤样基质。 典型的柔毛瘤是一种惰性、生长缓慢的病变,轮廓清晰,与下层组织平面不固定。然而,本病例中的皮损在 6 个月没有增大迹象后,开始以一种非常不寻常和令人担忧的方式生长,提示为皮肤恶性肿瘤。患者年龄较小,皮损发展迅速且面积较大,因此我们怀疑是肉瘤。 本病例强调了皮肤外科医生和病理学家之间合作的重要性,以确保对此类误导性病例进行彻底评估。这种合作将为适当的治疗决策提供指导,并避免对良性病变的过度治疗。
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引用次数: 0
Evaluation of biological agents and small-molecule drugs in the treatment of pruritus caused by various dermatoses 评估生物制剂和小分子药物在治疗各种皮肤病引起的瘙痒症中的作用
Pub Date : 2023-12-19 DOI: 10.1097/jd9.0000000000000364
Hao-Hao Wu, You Yi
Pruritus is a common symptom of many skin diseases that seriously affects the physical and mental health of patients. In clinical practice, many patients have pruritus that cannot be effectively improved by conventional treatments. Recent studies have found that pruritus is related to a variety of cells and cytokines that are expected to become therapeutic targets. Biological agents and new small-molecule drugs have shown good prospects in the treatment of pruritus. We searched the PubMed, Embase, Cochrane Library, and other databases for clinical trials and case reports of biological agents and small-molecule drugs in the treatment of pruritus, and reviewed the relevant content. This review provides new ideas for the improvement of pruritus and quality of life of patients with skin diseases.
瘙痒是许多皮肤病的常见症状,严重影响患者的身心健康。在临床实践中,许多患者的瘙痒症状无法通过常规治疗得到有效改善。最新研究发现,瘙痒与多种细胞和细胞因子有关,有望成为治疗靶点。生物制剂和新型小分子药物在治疗瘙痒症方面显示出良好的前景。我们在 PubMed、Embase、Cochrane Library 等数据库中检索了生物制剂和小分子药物治疗瘙痒症的临床试验和病例报告,并对相关内容进行了综述。本综述为改善皮肤病患者的瘙痒症状和生活质量提供了新思路。
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引用次数: 0
Uniform granular pigmentation as a novel dermoscopic feature of drug reaction 均匀颗粒状色素沉着是皮肤镜下药物反应的一种新特征
Pub Date : 2023-12-07 DOI: 10.1097/jd9.0000000000000345
Li-Xia Lu, Shuang Zhao, Mingliang Chen, Xiang Chen, Juan Su
In clinical practice, black-brown-gray pigment granules are common under dermoscopy. However, little is known about their clinical significance. We conducted this study to investigate the dermoscopy features of drug reaction. We searched the clinical database in Xiangya Hospital, Central South University from August 2017 to August 2022. Patients with full information on pigment granules and demographic and pathological findings were entered into the final analysis. Cases were reviewed for information regarding pathological and dermoscopic patterns. Fisher’s exact test was used to examine the correlation between individual histologic variables and established diagnoses. The depth of pigment granules showed a non-normal distribution and was analyzed using a nonparametric test. In total, 83 patients were included in this analysis. The presence of pigment granules under dermoscopy significantly indicated destruction of basal cells or pigment incontinence (91.5%, 76/83). The pigment granules within lesions were divided into uniform and nonuniform patterns with respect to their size, color, and distribution. Uniform granular pigmentation was more likely to be associated with eosinophils (numerous or in aggregates, P<0.001) or perifollicular inflammatory infiltration in the dermis (P=0.008). Notably, uniform granular pigmentation was more likely to be induced by medications. Uniform granular pigmentation under dermoscopy is a novel indicator of a drug reaction and necessitates a detailed inquiry.
在临床实践中,皮肤镜下常见黑棕灰色色素颗粒。然而,对其临床意义知之甚少。我们进行这项研究是为了探讨药物反应的皮肤镜特征。检索中南大学湘雅医院2017年8月至2022年8月的临床数据库。患者的色素颗粒的全部信息和人口统计学和病理结果进入最后的分析。对病例进行了病理和皮肤镜检查。Fisher精确检验用于检验个体组织学变量与既定诊断之间的相关性。颜料颗粒深度呈非正态分布,采用非参数检验进行分析。本次分析共纳入83例患者。皮肤镜下出现色素颗粒明显提示基底细胞破坏或色素失禁(91.5%,76/83)。病变内色素颗粒根据大小、颜色和分布分为均匀型和非均匀型。均匀颗粒状色素沉着更可能与嗜酸性粒细胞(大量或聚集,P<0.001)或真皮毛囊周围炎症浸润有关(P=0.008)。值得注意的是,均匀颗粒状色素沉着更可能是由药物引起的。皮肤镜下均匀颗粒状色素沉着是药物反应的新指标,需要详细调查。
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引用次数: 0
Monkeypox: A New Public Health Concern for Dermatologists 猴痘:皮肤科医生关注的新公共卫生问题
Pub Date : 2023-12-04 DOI: 10.1097/jd9.0000000000000359
Fei Hao, Tian Qian
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引用次数: 0
ADAR1 gene mutations in two Chinese pedigrees with dyschromatosis symmetrica hereditaria 两个中国遗传性对称性色素沉着症血统中的 ADAR1 基因突变
Pub Date : 2023-12-01 DOI: 10.1097/jd9.0000000000000362
Ya-Qi Cao, Chun-Yu Han, Jianwen Han
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominantly inherited disease with high penetrance. Patients with DSH display a mixture of hyperpigmented and hypopigmented macules on the dorsal aspects of the extremities and freckle-like macules on the face. We identified mutations in two Chinese pedigrees with DSH using whole-exome sequencing (WES) and verified these mutations with PCR-Sanger sequencing. We found a previously reported mutation, c.2433_2434del (p.A813Qfs*29), in exon 7 of ADAR1 in the patient of pedigree one and a novel mutation, c.3301G>T(p.V1101F), in exon 13 of ADAR1 in the patients of pedigree two. We have identified two gene mutations, one of which may be a novel mutation. At present, the main focus is to improve the color of skin lesions. Laser therapy and sun protection can to some extent alleviate skin lesions. The findings of the current case have expanded the range of ADAR1 mutations associated with DSH and may be of great help for future clinical genetic counseling.
对称遗传性色素异常症(DSH)是一种罕见的常染色体显性遗传病,具有高外显率。DSH患者表现为四肢背侧色素沉着和色素沉着的混合斑,面部表现为雀斑样斑。我们在1家系患者的ADAR1外显子7上发现了先前报道的突变c.2433_2434del (p.A813Qfs*29),在2家系患者的ADAR1外显子13上发现了一个新的突变c.3301G>T(p.V1101F)。我们已经确定了两个基因突变,其中一个可能是一个新的突变。目前,主要关注的是改善皮肤病变的颜色。激光治疗和防晒可以在一定程度上缓解皮肤损伤。本病例的发现扩大了与DSH相关的ADAR1突变的范围,可能对未来的临床遗传咨询有很大帮助。
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引用次数: 0
Expert Consensus on the Clinical Application of Chemical Peels in China (2022) # 中国化学换肤临床应用专家共识(2022年)#
Pub Date : 2023-12-01 DOI: 10.1097/jd9.0000000000000363
Yan Ding, Lin Gao, Li He, Dan Jian, Q. Ju, Xian Jiang, Cheng-Xin Li, Tong Lin, W. Lai, Yi Liu, Yan Tian, Baoxi Wang, Xiang Wen, Yan Wu, Lei-Hong Xiang, Bin Yang, Rui Yin, Rong-Ya Yang, Yan Yan, Yin Yang, Cheng Zhou, Li Zhang, Wei-hui Zeng
Chemical peels are widely used to treat various skin diseases and photoaging. Their rational, effective, and safe use has become an important issue in clinical practice. To standardize the clinical use of chemical peels, a group of experts developed this consensus based on the latest research and discussions. This consensus provides specific guidance to clinicians on chemical peels with respect to their classification, peeling agents, mechanisms, indications, contraindications, peeling techniques, and complications.
化学换肤被广泛用于治疗各种皮肤病和光老化。合理、有效、安全的使用已成为临床实践中的重要问题。为了规范化学换肤的临床使用,一组专家在最新研究和讨论的基础上达成了这一共识。这一共识为临床医生提供了关于化学脱皮的分类、脱皮剂、机制、适应症、禁忌症、脱皮技术和并发症的具体指导。
{"title":"Expert Consensus on the Clinical Application of Chemical Peels in China (2022) #","authors":"Yan Ding, Lin Gao, Li He, Dan Jian, Q. Ju, Xian Jiang, Cheng-Xin Li, Tong Lin, W. Lai, Yi Liu, Yan Tian, Baoxi Wang, Xiang Wen, Yan Wu, Lei-Hong Xiang, Bin Yang, Rui Yin, Rong-Ya Yang, Yan Yan, Yin Yang, Cheng Zhou, Li Zhang, Wei-hui Zeng","doi":"10.1097/jd9.0000000000000363","DOIUrl":"https://doi.org/10.1097/jd9.0000000000000363","url":null,"abstract":"Chemical peels are widely used to treat various skin diseases and photoaging. Their rational, effective, and safe use has become an important issue in clinical practice. To standardize the clinical use of chemical peels, a group of experts developed this consensus based on the latest research and discussions. This consensus provides specific guidance to clinicians on chemical peels with respect to their classification, peeling agents, mechanisms, indications, contraindications, peeling techniques, and complications.","PeriodicalId":73440,"journal":{"name":"International journal of dermatology and venereology","volume":" 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138613280","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
期刊
International journal of dermatology and venereology
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