Xuemeng Min, Qin Zeng, Shucui Wang, Xiaoqin Yang, Linting Huang, Ming Li, Zhen Zhang, Yali Yang
{"title":"Efficacy of Q-switched alexandrite laser therapy in a Chinese patient with LEOPARD syndrome.","authors":"Xuemeng Min, Qin Zeng, Shucui Wang, Xiaoqin Yang, Linting Huang, Ming Li, Zhen Zhang, Yali Yang","doi":"10.1684/ejd.2025.4957","DOIUrl":"https://doi.org/10.1684/ejd.2025.4957","url":null,"abstract":"","PeriodicalId":11968,"journal":{"name":"European Journal of Dermatology","volume":"35 5","pages":"429-431"},"PeriodicalIF":1.5,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145586326","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}
Jorge Martín-Nieto González, Belén Rodríguez Sánchez, Luis Jiménez Briones, Simon Goller, Cesar Silva Ferreira, Paloma García Piqueras
{"title":"Journal Club. Genetic pathways in melanoma: molecular foundations and clinical implications.","authors":"Jorge Martín-Nieto González, Belén Rodríguez Sánchez, Luis Jiménez Briones, Simon Goller, Cesar Silva Ferreira, Paloma García Piqueras","doi":"10.1684/ejd.2025.4972","DOIUrl":"https://doi.org/10.1684/ejd.2025.4972","url":null,"abstract":"","PeriodicalId":11968,"journal":{"name":"European Journal of Dermatology","volume":"35 5","pages":"442-444"},"PeriodicalIF":1.5,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145586335","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}
{"title":"An unusual manifestation of subcutaneous small lymphocytic lymphoma/chronic lymphocytic leukaemia arising from the right cheek.","authors":"Sadanori Furudate, Haruka Nakagawa, Yuna Katsuoka, Yoshihide Asano","doi":"10.1684/ejd.2025.4969","DOIUrl":"https://doi.org/10.1684/ejd.2025.4969","url":null,"abstract":"","PeriodicalId":11968,"journal":{"name":"European Journal of Dermatology","volume":"35 5","pages":"440-441"},"PeriodicalIF":1.5,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145586276","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}
{"title":"Rare coexistence of generalized pustular psoriasis and discoid lupus erythematosus with worsening of lupus lesions after bimekizumab therapy: a case report.","authors":"Tomoki Sakiyama, Kodai Furuta","doi":"10.1684/ejd.2025.4967","DOIUrl":"https://doi.org/10.1684/ejd.2025.4967","url":null,"abstract":"","PeriodicalId":11968,"journal":{"name":"European Journal of Dermatology","volume":"35 5","pages":"432-433"},"PeriodicalIF":1.5,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145586455","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}
Hypohidrotic ectodermal dysplasia (HED) is the most common form of ectodermal dysplasia in the general population. The clinical manifestations of HED include fever due to hypohidrosis, hypotrichosis, dental hypoplasia, and characteristic aged facial features, along with multisystem involvement. Over 20 genes have been implicated in HED, with EDA being the most frequent pathogenic gene. To expand the mutational spectrum of HED and explore the association between EDA mutations and hypotrichosis. Whole-exome sequencing, target gene sequencing, and Sanger sequencing were performed with prediction of protein structure. We identified five novel variants and five structural variants (with large indels and copy number variation). Copy number variation was validated through targeted sequencing and quantitative PCR. Patients harbouring deletion, nonsense, and splice-site mutations exhibited more severe phenotypes. We report a series of HED cases with mutations in EDA, EDAR, and NFKBIA, expanding the mutational spectrum of EDA, with analysis of genotype-phenotype correlations associated with EDA mutations. We propose that focal alopecia may serve as an easily observable clinical marker for disease severity stratification. Mutations disrupting critical structural domains or altering spatial conformation of the EDA protein may underlie these severe clinical manifestations by impairing protein stability or functional interactions.
{"title":"Hypohidrotic ectodermal dysplasia: association between EDA mutations and hypotrichosis - a case series.","authors":"Yue Li, Qin Zeng, Qiao-Yu Cao, An-Qi Zhao, Ming Li, Ning-Wen Zhu","doi":"10.1684/ejd.2025.4949","DOIUrl":"10.1684/ejd.2025.4949","url":null,"abstract":"<p><p>Hypohidrotic ectodermal dysplasia (HED) is the most common form of ectodermal dysplasia in the general population. The clinical manifestations of HED include fever due to hypohidrosis, hypotrichosis, dental hypoplasia, and characteristic aged facial features, along with multisystem involvement. Over 20 genes have been implicated in HED, with EDA being the most frequent pathogenic gene. To expand the mutational spectrum of HED and explore the association between EDA mutations and hypotrichosis. Whole-exome sequencing, target gene sequencing, and Sanger sequencing were performed with prediction of protein structure. We identified five novel variants and five structural variants (with large indels and copy number variation). Copy number variation was validated through targeted sequencing and quantitative PCR. Patients harbouring deletion, nonsense, and splice-site mutations exhibited more severe phenotypes. We report a series of HED cases with mutations in EDA, EDAR, and NFKBIA, expanding the mutational spectrum of EDA, with analysis of genotype-phenotype correlations associated with EDA mutations. We propose that focal alopecia may serve as an easily observable clinical marker for disease severity stratification. Mutations disrupting critical structural domains or altering spatial conformation of the EDA protein may underlie these severe clinical manifestations by impairing protein stability or functional interactions.</p>","PeriodicalId":11968,"journal":{"name":"European Journal of Dermatology","volume":"35 5","pages":"401-407"},"PeriodicalIF":1.5,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145586355","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}
Elisa Zavattaro, Chiara Airoldi, Federica Veronese, Edoardo Cammarata, Mauro Alaibac, Marco Ardigò, Giuseppe Argenziano, Stefano Astorino, Francesco Bellinato, Luca Bianchi, Maurizio Congedo, Claudia Costa, Alessandra D'amore, Alessandro Di Stefani, Maria Concetta Fargnoli, Caterina Foti, Pasquale Frascione, Giampiero Girolomoni, Vieri Grandi, Fabrizio Guarneri, Francesco Lacarrubba, Srena Lembo, Caterina Longo, Angelo Valerio Marzano, Giuseppe Micali, Steven P Nisticò, Annmaria Offidani, Bianca M Piraccini, Pietro Quaglino, Marco Romanelli, Franco Rongioletti, Pietro Rubegni, Camilla Salvini, Massimiliano Scalvenzi, Paolo Sena, Luca Stingeni, Carlo F Tomasini, Marina Venturini, Paola Savoia
Sun exposure is the main external risk factor for skin cancer, affecting melanoma and non-melanoma differently. Although increased awareness of sun-induced skin damage and appropriate photoprotection has helped to reduce melanoma incidence, inadequate sun protection persists, influenced by geographical, social, and cultural factors. Italy's varying climates -from the colder north to the warmer south- impact sun exposure behaviours. This study examined sun protection habits from the 2023 "Save your skin" campaign to identify at-risk groups and support targeted education. Participants completed anonymous questionnaires on sun exposure, sunscreen use, and skin cancer history. Among 1,773 participants, 45% spent 2-4 weeks per year in the sun on holiday, 26% experienced occupational sun exposure, and 33% used tanning beds. Despite darker skin types, only 26% tanned easily; severe sunburn rates were consistent across regions. Central and southern participants reported more sun exposure on holiday than northern participants (p < 0.001); work-related sun exposure was more common in the south. Tanning bed use was higher in the north (p < 0.001). Although 62.46% always used sunscreen, only 32.51% applied it correctly. Misconceptions about sunscreen were widespread, and actinic damage was more frequent among those with lower photoprotection awareness. Inadequate sun protection is widespread in Italy, with regional differences in sun exposure and tanning bed use. Misconceptions about sunscreen are common, and the rate of proper application is low. The higher incidence of actinic damage among those with less photoprotection knowledge highlights the need for targeted education to improve sun safety and reduce skin cancer risk.
{"title":"From north to south: exploring Italian sun-exposure habits through the \"Save your skin\" campaign.","authors":"Elisa Zavattaro, Chiara Airoldi, Federica Veronese, Edoardo Cammarata, Mauro Alaibac, Marco Ardigò, Giuseppe Argenziano, Stefano Astorino, Francesco Bellinato, Luca Bianchi, Maurizio Congedo, Claudia Costa, Alessandra D'amore, Alessandro Di Stefani, Maria Concetta Fargnoli, Caterina Foti, Pasquale Frascione, Giampiero Girolomoni, Vieri Grandi, Fabrizio Guarneri, Francesco Lacarrubba, Srena Lembo, Caterina Longo, Angelo Valerio Marzano, Giuseppe Micali, Steven P Nisticò, Annmaria Offidani, Bianca M Piraccini, Pietro Quaglino, Marco Romanelli, Franco Rongioletti, Pietro Rubegni, Camilla Salvini, Massimiliano Scalvenzi, Paolo Sena, Luca Stingeni, Carlo F Tomasini, Marina Venturini, Paola Savoia","doi":"10.1684/ejd.2025.4945","DOIUrl":"https://doi.org/10.1684/ejd.2025.4945","url":null,"abstract":"<p><p>Sun exposure is the main external risk factor for skin cancer, affecting melanoma and non-melanoma differently. Although increased awareness of sun-induced skin damage and appropriate photoprotection has helped to reduce melanoma incidence, inadequate sun protection persists, influenced by geographical, social, and cultural factors. Italy's varying climates -from the colder north to the warmer south- impact sun exposure behaviours. This study examined sun protection habits from the 2023 \"Save your skin\" campaign to identify at-risk groups and support targeted education. Participants completed anonymous questionnaires on sun exposure, sunscreen use, and skin cancer history. Among 1,773 participants, 45% spent 2-4 weeks per year in the sun on holiday, 26% experienced occupational sun exposure, and 33% used tanning beds. Despite darker skin types, only 26% tanned easily; severe sunburn rates were consistent across regions. Central and southern participants reported more sun exposure on holiday than northern participants (p < 0.001); work-related sun exposure was more common in the south. Tanning bed use was higher in the north (p < 0.001). Although 62.46% always used sunscreen, only 32.51% applied it correctly. Misconceptions about sunscreen were widespread, and actinic damage was more frequent among those with lower photoprotection awareness. Inadequate sun protection is widespread in Italy, with regional differences in sun exposure and tanning bed use. Misconceptions about sunscreen are common, and the rate of proper application is low. The higher incidence of actinic damage among those with less photoprotection knowledge highlights the need for targeted education to improve sun safety and reduce skin cancer risk.</p>","PeriodicalId":11968,"journal":{"name":"European Journal of Dermatology","volume":"35 5","pages":"361-368"},"PeriodicalIF":1.5,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145586332","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}
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