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Antimicrobial Resistance Profiles and mupA Gene Characterization of Staphylococcus epidermidis Recovered from Facial Skin of Healthy Females in Shanghai, China. 中国上海健康女性面部皮肤表皮葡萄球菌的抗菌谱和 mupA 基因特征。
IF 1.9 4区 医学 Q3 DERMATOLOGY Pub Date : 2024-12-09 eCollection Date: 2024-01-01 DOI: 10.2147/CCID.S481517
Bingqing Chen, Lingyun Yao, Rongjuan Cai, Wei Chen, Yue Wang

Purpose: To explore antimicrobial resistance profiles and mupA gene characterization of Staphylococcus epidermidis recovered from facial skin of healthy females in Shanghai, China.

Patients and methods: In this study, we collected facial skin samples from 107 healthy females in Shanghai, China, and S. epidermidis isolation was performed. The minimal inhibitory concentrations of 10 antibiotics were determined for the S. epidermidis isolates using the agar dilution method. High-level mupirocin-resistant isolates were subjected to whole-genome sequencing and bioinformatics analysis. A total of 94 un-duplicated S. epidermidis isolates were obtained from 107 facial skin samples.

Results: Antimicrobial susceptibility tests revealed that 23.4% of the 94 S. epidermidis isolates were resistant to oxacillin and positive for the mecA gene, which could be cauterized as methicillin-resistant S. epidermidis (MRSE). Resistance rates for erythromycin, clindamycin, tetracycline, ciprofloxacin, and gentamicin were 8.5%, 11.7%, 10.6%, 12.8%, and 1.1%, respectively. For mupirocin, the rates of low- and high-level resistance were 3.2% (3/94) and 11.7% (11/94), respectively. Resistance to vancomycin or linezolid was not observed. High-level mupirocin resistance in facial skin isolates is mediated by mupA. WGS and SNP-based phylogenetic analyses revealed diverse phylogenies among the 11 mupA-positive S. epidermidis isolates. Additionally, various resistance and virulence genes were identified in mupA-positive isolates. A new hybrid plasmid carrying mupA genes was found in two S. epidermidis isolates.

Conclusion: We observed a considerable level of antimicrobial resistance to several antibiotics and the prevalence of abundant and diverse resistance and virulence genes in the facial skin-origin S. epidermidis isolates. This may pose a potential risk for both public health and S. epidermidis infection.

目的:探讨从中国上海健康女性面部皮肤中检出的表皮葡萄球菌的抗菌谱和 mupA 基因特征:本研究收集了中国上海 107 名健康女性的面部皮肤样本,并进行了表皮葡萄球菌分离。采用琼脂稀释法测定了 10 种抗生素对表皮葡萄球菌分离株的最小抑菌浓度。对高水平的莫匹罗星耐药分离株进行了全基因组测序和生物信息学分析。从 107 份面部皮肤样本中共获得 94 个未重复的表皮真菌分离株:结果:抗菌药敏感性测试显示,94 个表皮葡萄球菌分离株中有 23.4% 对奥沙西林耐药,且 mecA 基因阳性,可被烧灼为耐甲氧西林表皮葡萄球菌(MRSE)。红霉素、林可霉素、四环素、环丙沙星和庆大霉素的耐药率分别为 8.5%、11.7%、10.6%、12.8% 和 1.1%。莫匹罗星的低水平和高水平耐药率分别为 3.2%(3/94)和 11.7%(11/94)。未观察到对万古霉素或利奈唑胺的耐药性。面部皮肤分离株对莫匹罗星的高水平耐药性是由 mupA 介导的。基于 WGS 和 SNP 的系统发育分析表明,11 株 mupA 阳性的表皮葡萄球菌分离株之间存在不同的系统发育。此外,在 mupA 阳性的分离株中还发现了各种抗性基因和毒力基因。在两个表皮葡萄球菌分离物中发现了携带 mupA 基因的新杂交质粒:结论:我们观察到面部皮肤源表皮葡萄球菌分离株对多种抗生素具有相当程度的耐药性,并普遍存在丰富多样的耐药基因和毒力基因。这可能会对公共卫生和表皮葡萄球菌感染构成潜在风险。
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引用次数: 0
A Retrospective Pragmatic Longitudinal Case-Series Clinical Study to Evaluate the Clinical Outcome of Triple-Frequency Ultrasound in Treatment of Cellulite. 评价三频超声治疗脂肪团临床效果的回顾性、实用、纵向病例系列临床研究。
IF 1.9 4区 医学 Q3 DERMATOLOGY Pub Date : 2024-12-06 eCollection Date: 2024-01-01 DOI: 10.2147/CCID.S488977
Irina Chervinskaya, Nadezhda I Kuprina, Ilja Kruglikov

Objective: In this single-centre, retrospective, pragmatic, longitudinal case-series clinical study triple-frequency LDM (TF-LDM) technology with frequencies of 1/3/10 MHz and 3/10/19 MHz was applied for treatment of cellulite to reveal the effect of these waves on the cellulite skin and assess the sustainability of treatment outcomes during the long-term follow-up controls.

Methods: Twenty Caucasian females with mild-to-severe gynoid lipodystrophy aged 27-53 years who received cellulite monotherapy with TF-LDM were included in this study. All participants were evaluated at three time points: baseline (T1), on the day of the last treatment (T2), and during the last follow-up (T3). Cellulite severity was assessed by six independent clinicians using the five-grade Clinician-Reported Photonumeric Cellulite Severity Scale (CR-PCSS). Patient satisfaction was evaluated using a 10-grade GAIS scale, ranging from 0 to 10 (0 - dissatisfied; 10 - fully satisfied). To objectify the treatment outcomes, 17 subjects were investigated using B-mode ultrasonography and real-time compression elastography at baseline and during follow-up.

Results: The average values of CR-PCSS (T1), CR-PCSS (T2) and CR-PCSS (T3) over all participants were 2.22±0.82, 1.18±0.77, and 0.84±0.77, respectively, which corresponded to the skin improvement between T1 and T2 of 0.93±0.27 (p < 0.0001) as well as between T1 and T3 of 1.38±0.47 (p < 0.0001). Assessment of elasticity of the dermis and adipose tissue on the basis of the 5-grade coloration scale revealed significant reinforcement of both tissues as well as of the superficial fascia at follow-up as compared to their baseline values. The obtained treatment outcomes were long-lasting and could be clearly observed even in individuals with a long-term follow-ups. Assessment of the satisfaction of participants with the treatment results revealed a high satisfaction of 8.95 ± 1.49. The method demonstrated no side effects, was pain-free, well-tolerated, and highly accepted by patients.

目的:在这项单中心、回顾性、实用、纵向的病例系列临床研究中,应用频率为1/3/10 MHz和3/10/19 MHz的三频LDM (TF-LDM)技术治疗脂肪团,以揭示这些波对脂肪团皮肤的影响,并评估长期随访对照期间治疗结果的可持续性。方法:选取20例年龄在27-53岁、患有轻至重度女性甲状腺脂肪营养不良的白种女性,接受脂肪团单药TF-LDM治疗。所有参与者在三个时间点进行评估:基线(T1),最后一次治疗当天(T2)和最后一次随访期间(T3)。脂肪团严重程度由6名独立临床医生使用5级临床报告光子脂肪团严重程度量表(CR-PCSS)进行评估。采用10级GAIS量表评估患者满意度,范围从0到10(0 -不满意;10 -完全满意)。为了使治疗结果客观化,我们在基线和随访期间使用b超和实时压缩弹性成像对17例患者进行了调查。结果:所有受试者CR-PCSS (T1)、CR-PCSS (T2)和CR-PCSS (T3)的平均值分别为2.22±0.82、1.18±0.77和0.84±0.77,对应于T1与T2之间的皮肤改善为0.93±0.27 (p < 0.0001), T1与T3之间的皮肤改善为1.38±0.47 (p < 0.0001)。在5级着色量表的基础上,真皮和脂肪组织的弹性评估显示,与基线值相比,这两种组织和浅筋膜在随访中都有显著的增强。获得的治疗结果是持久的,即使在长期随访的个体中也可以清楚地观察到。参与者对治疗结果的满意度评价为8.95±1.49,满意度较高。该方法无副作用,无痛,耐受性好,患者接受度高。
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引用次数: 0
Evaluation of Very-High-Frequency Ultrasound Imaging Characteristics of Dermatofibroma. 皮肤纤维瘤的高频超声影像特征评价。
IF 1.9 4区 医学 Q3 DERMATOLOGY Pub Date : 2024-12-06 eCollection Date: 2024-01-01 DOI: 10.2147/CCID.S493437
Bin Dong, Hongsheng Xia, Ying Liu, Hailiang Tao, Yan Xia, Feifei Zhu

Background: Dermatofibroma (DF) is one of the common dermatosis, which is so challenging to diagnose that its misdiagnostic incidence is quite high. The very-high-frequency (VHF) ultrasound is particularly relevant to the diagnosis of DF. Herein, we analyze the sonographic features and application value of VHF ultrasound in the diagnosis of DF.

Methods: Clinical data from 153 patients with pathologically confirmed DF from January 2019 to December 2023 were retrospectively analyzed using high-resolution VHF ultrasound, including size, location, shape, edge, boundary, interior echo, blood supply and so on.

Results: The VHF sonographic features of DF showed that the maximum diameter of the lesions was about 7.29 ±2.85 mm (mean ± standard deviation). In addition, most lesions were located in the middle and lower part of dermis (49%), with ill-defined (84%) and irregular shape (51%), 19% of which were serrated. Forty-four percent of lesions were hypo-echoic and heterogeneous, and 8% were complicated with calcifications. Nineteen percent of lesions presented as thickened dermal epidermal junction. Dermatofibroma are mostly hypovascular on color Doppler ultrasound. Forty-three percent of lesions were detected with punctate dotted blood flow signals. The correlation analysis showed blood flow classification and maximum diameter were not relevant.

Conclusion: The DF based on VHF ultrasonographic findings is characteristic, such as <10mm, ill-defined, located in the dermis, thickened DEJ, serrated shape, punctute or no flow on Doppler, which provide crucial indicators for differential diagnosis, potentially reducing the rate of DF misdiagnosis.

背景:皮肤纤维瘤(DF)是一种常见的皮肤病,诊断难度大,误诊率高。甚高频(VHF)超声与DF的诊断特别相关。本文就甚高频超声的声像图特征及在诊断DF中的应用价值进行分析。方法:回顾性分析2019年1月至2023年12月153例病理证实的DF患者的临床资料,包括大小、位置、形状、边缘、边界、内部回声、血供等。结果:DF的VHF超声特征显示病灶最大直径约为7.29±2.85 mm(平均值±标准差)。此外,大多数病变位于真皮中下部(49%),轮廓不清(84%),形状不规则(51%),其中19%呈锯齿状。44%的病变为低回声和异质性,8%的病变合并钙化。19%的病变表现为真皮表皮连接处增厚。彩色多普勒超声显示皮肤纤维瘤多表现为低血管。43%的病变是通过点状血流信号检测到的。相关分析显示,血流分型与最大直径无相关性。结论:基于VHF超声表现的DF具有特征性,可误诊。
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引用次数: 0
The Causal Effect Between Human Microbiota and Scabies: A Study from the Genetic Perspective. 人类微生物群与疥疮的因果关系:从遗传学角度的研究。
IF 1.9 4区 医学 Q3 DERMATOLOGY Pub Date : 2024-12-06 eCollection Date: 2024-01-01 DOI: 10.2147/CCID.S491660
Qi Zheng, Yuetong Li, Wenfeng Zhu, Xiang Xu, Guoping Sheng, Lanjuan Li

Background: Previous studies have indicated that human flora may affect the development of scabies, however, no studies have proven a causal relationship between human flora and scabies, which would be detrimental to future in-depth studies on human flora and scabies.

Methods: Mendelian randomization (MR) was used to analyze the causal effect between human microbiota and scabies, with data on intestinal flora and skin flora from two large published studies and data on scabies from the FinnGen database. Five MR analysis methods were used to increase the reliability of the results, and sensitivity analyses were conducted to increase the robustness of the results.

Results: Our results suggest that 13 intestinal flora as well as 7 skin flora can have a causal effect on scabies.

Conclusion: Overall, our results demonstrate a causal relationship between intestinal and skin flora and scabies and are consistent with previous observational findings. This will contribute to the future development of probiotic agents for the prevention or treatment of scabies.

背景:以往的研究表明,人类菌群可能影响疥疮的发展,但没有研究证明人类菌群与疥疮之间存在因果关系,这将不利于未来对人类菌群与疥疮的深入研究。方法:采用孟德尔随机化(Mendelian randomization, MR)方法分析人类微生物群与疥疮之间的因果关系,数据来自两项大型已发表研究的肠道菌群和皮肤菌群,疥疮数据来自FinnGen数据库。采用5种MR分析方法提高结果的可靠性,并进行敏感性分析以提高结果的稳健性。结果:13种肠道菌群和7种皮肤菌群可能与疥疮有因果关系。结论:总的来说,我们的研究结果表明肠道和皮肤菌群与疥疮之间存在因果关系,并且与先前的观察结果一致。这将有助于未来开发用于预防或治疗疥疮的益生菌制剂。
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引用次数: 0
Combined Abrocitinib and Acitretin Therapy for Darier's Disease: A Case Report. 阿布替尼联合阿维甲素治疗达里尔病1例
IF 1.9 4区 医学 Q3 DERMATOLOGY Pub Date : 2024-12-05 eCollection Date: 2024-01-01 DOI: 10.2147/CCID.S485694
Hui Ye, Weifeng Chen, Wenyan Liu, Junhui Zhu, Jingyao Liang, Xibao Zhang

Darier's disease (DD) is a rare chronic keratinizing skin disease characterized by dyskeratosis of epidermal cells. We report a case of DD with a medical history spanning over 20 years and recurring symptoms. Pathologically confirmed DD was treated with a combination of abrocitinib and acitretin, resulting in rapid symptom resolution within 2 weeks. No recurrence was noted in an 11-week follow-up. The mechanism may involve acitretin's inhibition of proliferation and anti-inflammation, while abrocitinib acts on IL-6 implicated in DD pathogenesis, exerting an immunomodulatory and anti-inflammatory effect, leading to rapid symptom relief. The combination of abrocitinib and acitretin is an effective therapy for DD, offering a promising new option for refractory patients.

达里尔病(DD)是一种罕见的慢性皮肤角化疾病,以表皮细胞角化异常为特征。我们报告一个有超过20年病史和反复出现症状的DD病例。病理证实的DD采用阿布替尼和阿维甲素联合治疗,2周内症状迅速缓解。随访11周未见复发。其机制可能与阿维甲素抑制增殖和抗炎有关,而阿布替尼作用于DD发病机制中涉及的IL-6,发挥免疫调节和抗炎作用,使症状迅速缓解。阿布替尼联合阿维a是一种有效的治疗DD的方法,为难治性患者提供了一个有希望的新选择。
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引用次数: 0
Compound Glycyrrhizin Promotes the Transformation of Neutrophils from Pro-Inflammatory to Anti-Inflammatory Effects in Psoriasis Vulgaris. 复方甘草酸促进寻常型银屑病中性粒细胞由促炎向抗炎转化的作用。
IF 1.9 4区 医学 Q3 DERMATOLOGY Pub Date : 2024-12-04 eCollection Date: 2024-01-01 DOI: 10.2147/CCID.S488211
Wanqun Chen, Jinwei Zhang
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引用次数: 0
Consensus Recommendations for the Reconstitution and Aesthetic Use of Poly-D,L-Lactic Acid Microspheres. 聚d - l -乳酸微球的重建和美学使用的共识建议。
IF 1.9 4区 医学 Q3 DERMATOLOGY Pub Date : 2024-12-04 eCollection Date: 2024-01-01 DOI: 10.2147/CCID.S497691
Fabiano Nadson Magacho-Vieira, Abrahao Osta Vieira, Amarilho Soares, Hellise Christine Lana Alvarenga, Iran Roger Alkimin de Oliveira Junior, João Antonio Correa Daher, João Vitor Moraes Pithon Napoli, Júlia Portocarrero de Almeida Serra, Suellen Costa Provázio

Poly-D,L-lactic acid (PDLLA) microspheres, marketed globally as Aesthefill® (Regen Biotech, Seoul, South Korea), are recognized for their biocompatible and biostimulatory properties, positioning them as a preferred option in aesthetic medicine. This article presents consensus recommendations from Brazilian experts on the reconstitution and clinical application of PDLLA for facial and non-facial treatments. Developed using a modified Delphi method with contributions from leading dermatologists and plastic surgeons, the consensus outlines protocols for reconstitution, injection techniques, and patient management. Key recommendations include reconstitution with 7-8 mL of sterile water for injection, the addition of lidocaine to improve patient comfort, and a preference for targeting the superficial subcutaneous layer. Dosing guidelines are specifically tailored to each treatment area and the desired degree of correction, underscoring the importance of personalized treatment plans. Maintenance treatments are advised at biennial intervals or at shorter intervals for patients exhibiting accelerated collagen degradation. The consensus also highlights the need for proper training and patient screening to minimize adverse effects, such as nodules and granulomas. This comprehensive guide aims to standardize the use of PDLLA, prioritizing patient safety and optimizing outcomes. While clinical trials evaluating PDLLA's aesthetic indications remain limited, these evidence-based guidelines bridge the gap by offering practical protocols grounded in clinical expertise. Further research is encouraged to validate these recommendations and explore new applications for PDLLA in aesthetic medicine.

聚d -l -乳酸(PDLLA)微球在全球以Aesthefill®(Regen Biotech, Seoul, South Korea)的名称上市,因其生物相容性和生物刺激特性而得到认可,使其成为美容医学的首选。本文介绍了巴西专家对面部和非面部治疗中PDLLA的重建和临床应用的共识建议。采用改进的德尔菲法,由领先的皮肤科医生和整形外科医生共同开发,共识概述了重建,注射技术和患者管理的协议。主要建议包括用7- 8ml无菌注射水重建,添加利多卡因以改善患者舒适度,并优先针对浅表皮下层。剂量指南是专门针对每个治疗领域和期望的矫正程度量身定制的,强调个性化治疗计划的重要性。对于胶原蛋白降解加速的患者,建议每两年进行一次维持治疗,或每隔更短的时间进行一次。共识还强调需要适当的培训和患者筛查,以尽量减少不良反应,如结节和肉芽肿。本综合指南旨在规范PDLLA的使用,优先考虑患者安全和优化结果。虽然评估PDLLA美学适应症的临床试验仍然有限,但这些以证据为基础的指南通过提供基于临床专业知识的实用方案来弥合差距。鼓励进一步的研究来验证这些建议,并探索PDLLA在美容医学中的新应用。
{"title":"Consensus Recommendations for the Reconstitution and Aesthetic Use of Poly-D,L-Lactic Acid Microspheres.","authors":"Fabiano Nadson Magacho-Vieira, Abrahao Osta Vieira, Amarilho Soares, Hellise Christine Lana Alvarenga, Iran Roger Alkimin de Oliveira Junior, João Antonio Correa Daher, João Vitor Moraes Pithon Napoli, Júlia Portocarrero de Almeida Serra, Suellen Costa Provázio","doi":"10.2147/CCID.S497691","DOIUrl":"10.2147/CCID.S497691","url":null,"abstract":"<p><p>Poly-D,L-lactic acid (PDLLA) microspheres, marketed globally as Aesthefill<sup>®</sup> (Regen Biotech, Seoul, South Korea), are recognized for their biocompatible and biostimulatory properties, positioning them as a preferred option in aesthetic medicine. This article presents consensus recommendations from Brazilian experts on the reconstitution and clinical application of PDLLA for facial and non-facial treatments. Developed using a modified Delphi method with contributions from leading dermatologists and plastic surgeons, the consensus outlines protocols for reconstitution, injection techniques, and patient management. Key recommendations include reconstitution with 7-8 mL of sterile water for injection, the addition of lidocaine to improve patient comfort, and a preference for targeting the superficial subcutaneous layer. Dosing guidelines are specifically tailored to each treatment area and the desired degree of correction, underscoring the importance of personalized treatment plans. Maintenance treatments are advised at biennial intervals or at shorter intervals for patients exhibiting accelerated collagen degradation. The consensus also highlights the need for proper training and patient screening to minimize adverse effects, such as nodules and granulomas. This comprehensive guide aims to standardize the use of PDLLA, prioritizing patient safety and optimizing outcomes. While clinical trials evaluating PDLLA's aesthetic indications remain limited, these evidence-based guidelines bridge the gap by offering practical protocols grounded in clinical expertise. Further research is encouraged to validate these recommendations and explore new applications for PDLLA in aesthetic medicine.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":"17 ","pages":"2755-2765"},"PeriodicalIF":1.9,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11626391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
A Novel Nonsense Mutation of the ATP2C1 Gene in an 18-Year-Old-Female with Papular Acantholytic Dyskeratosis of the Anogenital Area. 一种新的无义突变的ATP2C1基因的18岁女性丘疹棘溶解性角化不良的肛门生殖器区。
IF 1.9 4区 医学 Q3 DERMATOLOGY Pub Date : 2024-12-04 eCollection Date: 2024-01-01 DOI: 10.2147/CCID.S498588
Shuqi Huang, Moath Abbas Abdalla Alhadidi, Nanfei Feng, Chuan Wan

Papular acantholytic dyskeratosis (PAD), often found to occur in the vulvar or anogenital area, is an exceedingly rare skin condition that usually presents in adulthood and features multiple smooth skin-colored or grayish-white papules with or without pruritus. Although the pathogenesis of PAD is unknown, PAD may be associated with mutations in ATP2C1 and ATP2A2 genes. Here, we report on an 18-year-old female patient with multiple gray-white flat papules in the anogenital area. Skin biopsy revealed hyperkeratosis of the epidermis, acantholysis, formation of fissures or lacunae, and disappearance of desmosomes. Whole exon sequencing (WES) of the patient indicated mutations in the ATP2C1 gene.

丘疹性棘溶性角化不良(PAD),常见于外阴或肛门生殖器区域,是一种极其罕见的皮肤病,通常出现在成年期,特征为多个光滑的皮肤颜色或灰白色丘疹,伴或不伴瘙痒。虽然PAD的发病机制尚不清楚,但PAD可能与ATP2C1和ATP2A2基因突变有关。在这里,我们报告一位18岁的女性患者在肛门生殖器区域有多个灰白色扁平丘疹。皮肤活检显示表皮角化过度,棘层松解,形成裂隙或腔隙,桥粒消失。患者的全外显子测序(WES)显示ATP2C1基因突变。
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引用次数: 0
Tuberous Sclerosis Complex Presenting as Periungual Fibromas: A Rare Case Report and Literature Review. 结节性硬化症以趾周纤维瘤表现:一例罕见病例报告及文献复习。
IF 1.9 4区 医学 Q3 DERMATOLOGY Pub Date : 2024-12-03 eCollection Date: 2024-01-01 DOI: 10.2147/CCID.S488272
Ying Li, Zhipeng Wang, Yanhua Yang, Xiaoyan Xu

Background: Tuberous sclerosis complex (TSC) is a rare autosomal-dominant disorder involving multiple organs including skin, brain, heart, lung, kidney and liver. It usually occurs as early as birth or even in utero, with rare cases diagnosed in their adulthood. Here, we present a rare adult case of TSC presenting as periungual fibromas (PF).

Case presentation: A 67-year-old gentleman showed recurrence of multiple periungual polypoid tumors on all the toes of the right foot when presenting to our department. On physical examination, there were polypoid and verrucous protrusions on the nail fold side of the proximal toe. Computed tomography scan indicated multiple subependymal nodules and renal cyst. Pathological analysis for the polypoid tissues showed fibroepithelial-like lesions, epidermal hyperkeratosis, and acanthosis. Therefore, the patient was diagnosed with TSC presenting as PF.

Conclusion: We reported a rare case of TSC diagnosed in the adulthood based on the presence of PF, subependymal nodules, and renal cyst.

背景:结节性硬化症(TSC)是一种罕见的常染色体显性疾病,累及多器官,包括皮肤、脑、心、肺、肾和肝。它通常发生在出生甚至子宫内,极少数病例在成年后被诊断出来。在此,我们报告一例罕见的成人TSC,表现为骨趾周围纤维瘤(PF)。病例介绍:一位67岁的男士在我科就诊时,发现右脚所有脚趾的足趾周围多发息肉样肿瘤复发。体格检查:趾近端甲襞侧可见息肉样及疣状突起。计算机断层扫描显示室管膜下多发结节及肾囊肿。息肉样组织的病理分析显示纤维上皮样病变,表皮角化过度和棘层增生。结论:我们报告了一例罕见的TSC在成年期诊断为PF、室管膜下结节和肾囊肿。
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引用次数: 0
A Novel Mutation of the ADAR1 Gene in a Chinese Family with Dyschromatosis Symmetrica Hereditaria and Literature Review. 中国对称遗传性色素异常症家族ADAR1基因的新突变及文献综述。
IF 1.9 4区 医学 Q3 DERMATOLOGY Pub Date : 2024-11-30 eCollection Date: 2024-01-01 DOI: 10.2147/CCID.S475880
Hongping Ge, Na Zhang, Xinru Chen, Meiyan Wang, Tianhui Ye

Background: Dyschromatosis symmetrica hereditaria (DSH) is a rare genetic skin condition characterized by pigmented macules on the hands, feet, and sometimes the face. The ADAR1 gene is responsible for this autosomal dominant disorder.

Objective: This study aimed to analyze a three-generation Chinese family with DSH, identify a novel ADAR1 gene mutation, and conduct a comprehensive literature review of Chinese DSH families to enhance understanding of the genetic basis and clinical manifestations.

Methods: Clinical reports, mutation analysis, and literature reviews were conducted. A literature search was performed using PubMed.

Results: A novel heterozygous nonsense mutation, c.763C>T (p.Q255X), in the ADAR1 gene was identified in the proband and five other affected individuals. Literature review findings revealed prevalent mutation sites and clinical data in Chinese DSH families over the past two decades.

Limitations: The number of databases searched was limited, and the treatment outcomes for patients were not deemed satisfactory.

Conclusion: This study provides valuable insights into the genetic basis and clinical features of DSH in Chinese families, shedding light on prevalent mutation sites and clinical data. Further research is needed to explore the relationship between gene mutations and clinical phenotypes and advance therapeutic interventions for DSH.

背景:遗传性对称色素沉着症(DSH)是一种罕见的遗传性皮肤病,其特征是手、脚、有时脸部出现色素斑。ADAR1基因是导致这种常染色体显性疾病的原因。目的:本研究旨在对一个中国DSH三代家族进行分析,发现一个新的ADAR1基因突变,并对中国DSH家族进行全面的文献综述,以加深对遗传基础和临床表现的认识。方法:进行临床报告、突变分析和文献复习。使用PubMed进行文献检索。结果:在该先证者及其他5例ADAR1基因中发现了一种新的杂合无义突变c.763C>T (p.Q255X)。文献综述结果揭示了过去二十年来中国DSH家族中普遍存在的突变位点和临床数据。局限性:检索的数据库数量有限,患者的治疗结果并不令人满意。结论:本研究为中国家庭DSH的遗传基础和临床特征提供了有价值的见解,揭示了流行的突变位点和临床数据。需要进一步研究基因突变与临床表型之间的关系,并提出DSH的治疗干预措施。
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引用次数: 0
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Clinical, Cosmetic and Investigational Dermatology
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