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Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region.
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2025-01-01 DOI: 10.5826/dpc.1501a4935
Ayat Kadhi, Lamiaa Hamie, Edward Eid, Georges Nemer, Mazen Kurban

Introduction: Genodermatoses refer to a group of heterogenous rare genetic diseases with cutaneous expression. Several genodermatoses present with multisystem involvement that can range from mild to life-threatening conditions leading to increased morbidity and mortality.

Objective: Given the paucity in the literature in the field of genodermatoses, especially in the Middle East and North Africa (MENA) region, and building upon the first established genodermatoses database based in Lebanon, this study aimed to decipher the genetic basis of two different types of skin-inherited diseases (androgenic alopecia and vitiligo).

Methods: We conducted a pilot study on two subjects with androgenic alopecia and vitiligo to investigate the possibility of a digenic inheritance model as a potential underlying mechanism for these conditions. Whole exome sequencing (WES) and Gene Expression Omnibus (GEO) DataSets were employed to validate the methodology and provide a foundation for future, larger-scale studies.

Results: We identified two gene variants FOXC1(p.His484Tyr) and SMARCD1 (p.Arg351Cys) responsible for androgenic alopecia and HPS1(p.Ser566Ter) and ITK (p.Pro521Leu) responsible for vitiligo. Further analysis using GEO DataSets confirmed the association between the genes involved in each each disease.

Conclusion: This study identified novel candidate disease genes and inheritance model that could explain the underlying phenotypes that could open the door for a better-guided genomic approach for personalized treatment and early diagnosis.

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引用次数: 0
Real-life Experience of Bimekizumab in 27 Obese Patients with Plaque-type Psoriasis: A 24-week Multicenter Retrospective Study.
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2025-01-01 DOI: 10.5826/dpc.1501a4893
Zeno Fratton, Vincenzo Maione, Stefano Bighetti, Luca Bettolini, Giuseppe Stinco, Enzo Errichetti
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引用次数: 0
In Vivo Characterization of the Inflammatory Infiltrate in Discoid Lupus Erythematosus (DLE) by Line-Field Confocal Optical Coherence Tomography (LC-OCT).
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2025-01-01 DOI: 10.5826/dpc.1501a5089
Pierfrancesco Benvenuto, Vittorio Tancredi, Andrea Ronchi, Camila Scharf, Elisabetta Fulgione, Elvira Moscarella
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引用次数: 0
A Window into the Vascular Endothelium in Covid-19: Nails.
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2025-01-01 DOI: 10.5826/dpc.1501a4927
Ozge Sevil Karstarli Bakay, Niyazi Cetin, Umut Bakay, Gokhan Cinar, Sule Goksin

Introduction: Endothelial damage is associated with acute and long-term coronavirus disease 2019 (COVID-19) complications. Proximal nailfold capillaries and nail beds give important clues to microvascular changes associated with endothelial dysfunction.

Objective: We aimed to use dermoscopy to examine the proximal nailfold capillaries and nail bed of COVID-19 patients and identify microvascular changes.

Methods: A prospective study was designed to evaluate the dermoscopic features of proximal nail fold capillaries and nail bed in mild-to-moderate COVID-19 patients and healthy controls between June 2022 and December 2023. The patients underwent their initial dermoscopic examination two weeks after the onset of symptoms, followed by a follow-up evaluation 10-14 months later.

Results: The study included 46 patients with mild-to-moderate COVID-19 and 62 healthy controls. The presence of avascular areas (P <0.001), meandering capillaries (P = 0.016), microhemorrhages (P = 0.007), and enlarged capillaries (P = 0.009) in the proximal nail fold was significantly higher in COVID-19 patients than in healthy controls. The capillary architecture was disorganized (P = 0.002) and density reduced (P <0.001) in COVID-19 patients compared to healthy controls. In the follow-up examination, microvascular changes were observed to have regressed.

Conclusions: Proximal nailfold dermoscopy is an effective, low-cost, easily accessible method that enables observation of microvascular changes in COVID-19 patients.

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引用次数: 0
Optimized Calcium Hydroxylapatite Formulation and Its Injection Technique for Hand Rejuvenation: A Retrospective Study. 用于手部年轻化的优化羟基磷灰石钙配方及其注射技术:回顾性研究
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-10-30 DOI: 10.5826/dpc.1404a283
Emanuele Bartoletti, Alison Favaroni, Loredana Cavalieri

Introduction: Hand rejuvenation treatment is in high demand in cosmetic medicine. Radiesse®, a commercially available formulation of calcium hydroxylapatite (CaHA), is safe, biocompatible, and provides long-lasting results.

Objective: The study aimed to retrospectively evaluate the efficacy and safety of the presented formulation of Radiesse® and its injection procedure.

Methods: The hands of 58 women were treated employing Radiesse® diluted with lidocaine. The treatment was performed using a blunt cannula following the proximal-to-distal fanning technique at two entry points on the dorsum of the hands. The patients received 1-4 treatments over a follow-up period of up to five years.

Results: The hands of 58 females were evaluated using the Merz Hand Grading Scale (MHGS) and treated with the presented CaHA formulation. After the first treatment, 55 patients (94.8%) achieved a 1-point improvement, and 19 patients (32.8%) did not receive further treatment, being satisfied with the results. The remaining 39 women (67.2%) received 2-4 follow-up treatments. At the end of the treatment(s), 46 women (79%) achieved a final improvement of one point, and 12 women (21%) a final improvement of two points. Three minor adverse events were registered.

Conclusions: Radiesse® diluted with lidocaine is an excellent choice for hand rejuvenation. The formulation and technique proved to be safe and efficient. In our experience, a blunt cannula should be employed for optimal vein correction. The treatment was highly satisfying, although planning a second treatment during the 1-month follow-up visit is recommended to best achieve long-lasting results.

简介手部年轻化治疗在美容医学中需求量很大。Radiesse®是一种市售的羟基磷灰石钙(CaHA)制剂,安全、生物相容性好且效果持久:本研究旨在回顾性评估 Radiesse® 配方及其注射过程的有效性和安全性:方法:使用稀释了利多卡因的 Radiesse® 对 58 名女性的双手进行治疗。治疗使用钝套管,按照从近端到远端的扇形技术,在手背的两个切入点进行。患者在长达五年的随访期内接受了 1-4 次治疗:结果:58 位女性患者的手部接受了梅尔兹手部分级量表(MHGS)评估,并接受了所介绍的 CaHA 配方治疗。在第一次治疗后,55 名患者(94.8%)的手部状况得到了 1 分的改善,19 名患者(32.8%)对治疗效果感到满意,没有再接受治疗。其余 39 名妇女(67.2%)接受了 2-4 次后续治疗。治疗结束后,46 名妇女(79%)的病情最终改善了 1 点,12 名妇女(21%)的病情最终改善了 2 点。共发生了三起轻微不良反应:用利多卡因稀释的 Radiesse® 是手部年轻化的最佳选择。配方和技术证明是安全高效的。根据我们的经验,为了达到最佳的静脉矫正效果,应使用钝插管。治疗效果非常令人满意,但建议在一个月的随访期间进行第二次治疗,以达到最佳的持久效果。
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引用次数: 0
Ecthyma Gangrenosum Secondary to Panton-Valentine Leukocidin-Secreting Staphylococcus aureus in an Immunocompetent Patient. 一名免疫功能正常的患者因分泌潘通-瓦伦丁白细胞介素的金黄色葡萄球菌而继发的疽性外皮藓
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-10-30 DOI: 10.5826/dpc.1404a233
François-Xavier Blanchet, Marion Delannoy, Christine Forasassi, Juliette Fontaine, Fabienne Carre, Dorothée Chopin, Hester Colboc
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引用次数: 0
Exogenous Pigmentation by Foreign Body Under Reflectance Confocal Microscopy Mimicking Recurrence of Lentigo Maligna. 反射共聚焦显微镜下异物引起的外源性色素沉着,模仿复发的白斑。
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-10-30 DOI: 10.5826/dpc.1404a234
Piscazzi Francesco, Di Giulio Sara, Ardigò Marco
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引用次数: 0
Anti-IL-17/23 Drugs for the Treatment of Moderate-to-Severe Hidradenitis Suppurativa in Patients With Concomitant Psoriasis: A Multicenter Retrospective Study. 抗il -17/23药物治疗伴发银屑病患者的中重度化脓性汗腺炎:一项多中心回顾性研究
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-10-30 DOI: 10.5826/dpc.1404a250
Luigi Gargiulo, Luciano Ibba, Alessandra Narcisi, Silvia Giordano, Carlo A Maronese, Fabrizio Martora, Federica Repetto, Giovanni Paolino, Anna Balato, Martina Burlando, Paolo Dapavo, Valentina Dini, Claudio Guarneri, Angelo V Marzano, Matteo Megna, Santo R Mercuri, Antonio Costanzo, Mario Valenti

Introduction: Psoriasis and hidradenitis suppurativa (HS) are chronic inflammatory diseases with significant overlap in their immunologic pathways, which involve cytokines such as tumor necrosis factor-alfa, interleukin (IL)-17, and IL-23. Current treatment options for HS are limited, as only adalimumab and secukinumab are approved for severe cases. Given the overlapping pathogenetic features between HS and psoriasis, anti-IL-17 and anti-IL-23 drugs could represent valuable treatments for the management of HS.

Objectives: We sought to evaluate the effectiveness and safety of anti-IL-17 and anti-IL-23 drugs in patients with HS and concomitant moderate-to-severe plaque psoriasis.

Methods: We conducted a multicenter retrospective study in 11 Italian Dermatology Units. The effectiveness of the drugs was evaluated by assessing the percentage of patients achieving HS Clinical Response (HiSCR) each week.

Results: We enrolled 41 patients with at least 16 weeks of follow-up, with 17 of them completing 52 weeks of treatment. The most commonly prescribed anti-IL drug was secukinumab (27 patients), followed by ixekizumab (5) and guselkumab (5). The HiSCR was achieved by 39%, 74.3%, and 77.8% of patients after 16, 32, and 52 weeks, respectively. No severe adverse events (AEs) or AEs leading to discontinuation were observed during the study. The most common AE was nasopharyngitis (four patients).

Conclusion: In this real-world study, we highlight the effectiveness of anti-IL-23 and anti-IL-17 drugs in the treatment of concomitant plaque psoriasis and severe HS. Longer and larger studies are needed to further evaluate the long-term effectiveness and safety of these treatments in patients affected by HS.

银屑病和化脓性汗腺炎(HS)是两种免疫途径有明显重叠的慢性炎症性疾病,涉及肿瘤坏死因子- α、白细胞介素(IL)-17、IL-23等细胞因子。目前HS的治疗选择是有限的,因为只有阿达木单抗和secukinumab被批准用于严重病例。鉴于HS与银屑病之间的重叠发病特征,抗il -17和抗il -23药物可能是治疗HS的有价值的治疗方法。目的:我们试图评估抗il -17和抗il -23药物在HS合并中重度斑块型银屑病患者中的有效性和安全性。方法:我们在意大利11个皮肤科进行了一项多中心回顾性研究。通过评估每周达到HS临床反应(HiSCR)的患者百分比来评估药物的有效性。结果:我们招募了41例患者,随访至少16周,其中17例完成了52周的治疗。最常用的抗il药物是secukinumab(27例),其次是ixekizumab(5例)和guselkumab(5例)。在16周、32周和52周后,分别有39%、74.3%和77.8%的患者达到HiSCR。研究期间未观察到严重不良事件(ae)或导致停药的ae。最常见的AE是鼻咽炎(4例)。结论:在现实世界的研究中,我们强调了抗il -23和抗il -17药物治疗伴发斑块型银屑病和严重HS的有效性。需要更长时间和更大规模的研究来进一步评估这些治疗对HS患者的长期有效性和安全性。
{"title":"Anti-IL-17/23 Drugs for the Treatment of Moderate-to-Severe Hidradenitis Suppurativa in Patients With Concomitant Psoriasis: A Multicenter Retrospective Study.","authors":"Luigi Gargiulo, Luciano Ibba, Alessandra Narcisi, Silvia Giordano, Carlo A Maronese, Fabrizio Martora, Federica Repetto, Giovanni Paolino, Anna Balato, Martina Burlando, Paolo Dapavo, Valentina Dini, Claudio Guarneri, Angelo V Marzano, Matteo Megna, Santo R Mercuri, Antonio Costanzo, Mario Valenti","doi":"10.5826/dpc.1404a250","DOIUrl":"10.5826/dpc.1404a250","url":null,"abstract":"<p><strong>Introduction: </strong>Psoriasis and hidradenitis suppurativa (HS) are chronic inflammatory diseases with significant overlap in their immunologic pathways, which involve cytokines such as tumor necrosis factor-alfa, interleukin (IL)-17, and IL-23. Current treatment options for HS are limited, as only adalimumab and secukinumab are approved for severe cases. Given the overlapping pathogenetic features between HS and psoriasis, anti-IL-17 and anti-IL-23 drugs could represent valuable treatments for the management of HS.</p><p><strong>Objectives: </strong>We sought to evaluate the effectiveness and safety of anti-IL-17 and anti-IL-23 drugs in patients with HS and concomitant moderate-to-severe plaque psoriasis.</p><p><strong>Methods: </strong>We conducted a multicenter retrospective study in 11 Italian Dermatology Units. The effectiveness of the drugs was evaluated by assessing the percentage of patients achieving HS Clinical Response (HiSCR) each week.</p><p><strong>Results: </strong>We enrolled 41 patients with at least 16 weeks of follow-up, with 17 of them completing 52 weeks of treatment. The most commonly prescribed anti-IL drug was secukinumab (27 patients), followed by ixekizumab (5) and guselkumab (5). The HiSCR was achieved by 39%, 74.3%, and 77.8% of patients after 16, 32, and 52 weeks, respectively. No severe adverse events (AEs) or AEs leading to discontinuation were observed during the study. The most common AE was nasopharyngitis (four patients).</p><p><strong>Conclusion: </strong>In this real-world study, we highlight the effectiveness of anti-IL-23 and anti-IL-17 drugs in the treatment of concomitant plaque psoriasis and severe HS. Longer and larger studies are needed to further evaluate the long-term effectiveness and safety of these treatments in patients affected by HS.</p>","PeriodicalId":11168,"journal":{"name":"Dermatology practical & conceptual","volume":"14 4","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11619969/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799683","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
Disseminated Superficial Actinic Porokeratosis Treated with Topical Simvastatin: Evaluation of Therapeutic Response with Dermoscopy. 局部辛伐他汀治疗弥散性浅浅光化性角化症:皮肤镜下治疗反应的评价。
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-10-30 DOI: 10.5826/dpc.1404a247
Horacio Cabo, Emilia Cohen Sabban, Rosario Peralta, Gabriel Salerni
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引用次数: 0
Onychoscopy in Palmoplantar Psoriasis: A Comparative Study of Nonpustular Palmoplantar Psoriasis and Palmoplantar Pustulosis. 掌跖银屑病的虹膜镜检查:非脓疱性掌跖银屑病与掌跖脓疱病的比较研究。
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-10-30 DOI: 10.5826/dpc.1404a227
Ahu Yorulmaz

Introduction: Palmoplantar psoriasis is classified as nonpustular palmoplantar psoriasis (NPPP) or palmoplantar pustulosis (PPP).

Objective: We sought to shed light on the phenotypic diversity of nail psoriasis and conducted a thorough study of the dermoscopic features of nail lesions from patients with NPPP and PPP.

Methods: A prospective study included 35 patients with NPPP and 20 patients with PPP who had findings of nail psoriasis in at least three of their nails. Demographic and clinical data, such as general characteristics, history, a thorough dermatological examination, and musculoskeletal assessment, were recorded. Each patient had their nails evaluated with videodermoscopy. The statistical analysis was carried out using SPSS software, including descriptive and analytical statistics.

Results: Dermoscopic patterns of nail lesions in both groups differed from those seen in psoriasis vulgaris. Trachyonychia was the most common dermoscopic pattern among NPPP patients. Nail bed pustules were found in 75% of the PPP patients, and they were the most common dermoscopic finding identifying PPP nail lesions. In comparison to the NPPP group, patients with PPP had a higher frequency of psoriatic arthritis (PsA) and higher palmoplantar psoriasis and nail psoriasis severity scores. In the PPP group, all patients with PsA had pustules.

Conclusions: Nail psoriasis has a heterogeneous presentation and various clinical manifestations in NPPP, PPP, and psoriasis vulgaris. The differences in dermoscopic patterns of nail lesions among NPPP, PPP, and psoriasis vulgaris reflect the diseases' distinct characteristics. A thorough dermoscopic examination of the nails may reveal information about both the underlying pathophysiological pathways and the overall course of psoriasis.

掌跖牛皮癣分为非脓疱性掌跖牛皮癣(NPPP)和掌跖脓疱病(PPP)。目的:我们试图揭示甲牛皮癣的表型多样性,并对NPPP和PPP患者指甲病变的皮肤镜特征进行了深入的研究。方法:一项前瞻性研究纳入了35例NPPP患者和20例PPP患者,这些患者至少有3个指甲出现指甲牛皮癣。记录了人口统计学和临床数据,如一般特征、病史、彻底的皮肤病学检查和肌肉骨骼评估。每位患者都用可视皮肤镜检查指甲。采用SPSS软件进行统计分析,包括描述性统计和分析性统计。结果:两组甲损的皮肤镜模式与寻常型银屑病不同。甲骨裂是NPPP患者最常见的皮肤镜类型。75%的PPP患者发现甲床脓疱,这是诊断PPP指甲病变最常见的皮肤镜检查结果。与NPPP组相比,PPP患者出现银屑病关节炎(PsA)的频率更高,掌跖牛皮癣和指甲牛皮癣的严重程度评分也更高。PPP组所有PsA患者均有脓疱。结论:甲型银屑病在NPPP、PPP和寻常型银屑病中具有异质表现和多种临床表现。NPPP、PPP和寻常型银屑病甲损的皮肤镜模式差异反映了该疾病不同的特点。对指甲进行彻底的皮肤镜检查可以揭示潜在的病理生理途径和牛皮癣的整个病程。
{"title":"Onychoscopy in Palmoplantar Psoriasis: A Comparative Study of Nonpustular Palmoplantar Psoriasis and Palmoplantar Pustulosis.","authors":"Ahu Yorulmaz","doi":"10.5826/dpc.1404a227","DOIUrl":"10.5826/dpc.1404a227","url":null,"abstract":"<p><strong>Introduction: </strong>Palmoplantar psoriasis is classified as nonpustular palmoplantar psoriasis (NPPP) or palmoplantar pustulosis (PPP).</p><p><strong>Objective: </strong>We sought to shed light on the phenotypic diversity of nail psoriasis and conducted a thorough study of the dermoscopic features of nail lesions from patients with NPPP and PPP.</p><p><strong>Methods: </strong>A prospective study included 35 patients with NPPP and 20 patients with PPP who had findings of nail psoriasis in at least three of their nails. Demographic and clinical data, such as general characteristics, history, a thorough dermatological examination, and musculoskeletal assessment, were recorded. Each patient had their nails evaluated with videodermoscopy. The statistical analysis was carried out using SPSS software, including descriptive and analytical statistics.</p><p><strong>Results: </strong>Dermoscopic patterns of nail lesions in both groups differed from those seen in psoriasis vulgaris. Trachyonychia was the most common dermoscopic pattern among NPPP patients. Nail bed pustules were found in 75% of the PPP patients, and they were the most common dermoscopic finding identifying PPP nail lesions. In comparison to the NPPP group, patients with PPP had a higher frequency of psoriatic arthritis (PsA) and higher palmoplantar psoriasis and nail psoriasis severity scores. In the PPP group, all patients with PsA had pustules.</p><p><strong>Conclusions: </strong>Nail psoriasis has a heterogeneous presentation and various clinical manifestations in NPPP, PPP, and psoriasis vulgaris. The differences in dermoscopic patterns of nail lesions among NPPP, PPP, and psoriasis vulgaris reflect the diseases' distinct characteristics. A thorough dermoscopic examination of the nails may reveal information about both the underlying pathophysiological pathways and the overall course of psoriasis.</p>","PeriodicalId":11168,"journal":{"name":"Dermatology practical & conceptual","volume":"14 4","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11619982/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799690","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}
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Dermatology practical & conceptual
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