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.
{"title":"Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region.","authors":"Ayat Kadhi, Lamiaa Hamie, Edward Eid, Georges Nemer, Mazen Kurban","doi":"10.5826/dpc.1501a4935","DOIUrl":"https://doi.org/10.5826/dpc.1501a4935","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Objective: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":11168,"journal":{"name":"Dermatology practical & conceptual","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143031964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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.
{"title":"A Window into the Vascular Endothelium in Covid-19: Nails.","authors":"Ozge Sevil Karstarli Bakay, Niyazi Cetin, Umut Bakay, Gokhan Cinar, Sule Goksin","doi":"10.5826/dpc.1501a4927","DOIUrl":"https://doi.org/10.5826/dpc.1501a4927","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Objective: </strong>We aimed to use dermoscopy to examine the proximal nailfold capillaries and nail bed of COVID-19 patients and identify microvascular changes.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>Proximal nailfold dermoscopy is an effective, low-cost, easily accessible method that enables observation of microvascular changes in COVID-19 patients.</p>","PeriodicalId":11168,"journal":{"name":"Dermatology practical & conceptual","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143031925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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.
{"title":"Optimized Calcium Hydroxylapatite Formulation and Its Injection Technique for Hand Rejuvenation: A Retrospective Study.","authors":"Emanuele Bartoletti, Alison Favaroni, Loredana Cavalieri","doi":"10.5826/dpc.1404a283","DOIUrl":"10.5826/dpc.1404a283","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Objective: </strong>The study aimed to retrospectively evaluate the efficacy and safety of the presented formulation of Radiesse® and its injection procedure.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":11168,"journal":{"name":"Dermatology practical & conceptual","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11620197/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496845","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}
{"title":"Exogenous Pigmentation by Foreign Body Under Reflectance Confocal Microscopy Mimicking Recurrence of Lentigo Maligna.","authors":"Piscazzi Francesco, Di Giulio Sara, Ardigò Marco","doi":"10.5826/dpc.1404a234","DOIUrl":"10.5826/dpc.1404a234","url":null,"abstract":"","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/PMC11620002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799755","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}
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.
{"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}
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.
{"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}