Daniela Di Girolamo, Enzo Di Iorio, Caterina Missero
{"title":"Molecular and Cellular Function of p63 in Skin Development and Genetic Diseases.","authors":"Daniela Di Girolamo, Enzo Di Iorio, Caterina Missero","doi":"10.1016/j.jid.2024.08.011","DOIUrl":"https://doi.org/10.1016/j.jid.2024.08.011","url":null,"abstract":"<p><p>The transcription factor p63 is a master regulator of multiple ectodermal derivatives. During epidermal commitment, p63 interacts with several chromatin remodeling complexes to transactivate epidermal-specific genes and repress transcription of simple epithelial and nonepithelial genes. In the postnatal epidermis, p63 is required to control the proliferative potential of progenitor cells, maintain epidermal integrity, and contribute to epidermal differentiation. Autosomal dominant sequence variant in p63 cause a spectrum of syndromic disorders that affect several tissues, including or derived from stratified epithelia. In this review, we describe the recent studies that have provided novel insights into disease pathogenesis and potential therapeutic targets.</p>","PeriodicalId":94239,"journal":{"name":"The Journal of investigative dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335600","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}
Sam Kahler, Brigid Betz-Stablein, Fabian Lee, Joachim Torrano, Monika Janda, Clare Primiero, H Peter Soyer, Dilki Jayasinghe
{"title":"Estimation of Body Mass Index from 3-Dimensional Total Body Photography.","authors":"Sam Kahler, Brigid Betz-Stablein, Fabian Lee, Joachim Torrano, Monika Janda, Clare Primiero, H Peter Soyer, Dilki Jayasinghe","doi":"10.1016/j.jid.2024.06.1294","DOIUrl":"10.1016/j.jid.2024.06.1294","url":null,"abstract":"","PeriodicalId":94239,"journal":{"name":"The Journal of investigative dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335598","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}
Michael L Frisoli, Wei-Che C Ko, Nuria Martinez, Khashayar Afshari, Yuqing Wang, Manuel Garber, John E Harris
{"title":"Single-Cell RNA Sequencing Reveals Molecular Signatures that Distinguish Allergic from Irritant Contact Dermatitis.","authors":"Michael L Frisoli, Wei-Che C Ko, Nuria Martinez, Khashayar Afshari, Yuqing Wang, Manuel Garber, John E Harris","doi":"10.1016/j.jid.2024.09.008","DOIUrl":"10.1016/j.jid.2024.09.008","url":null,"abstract":"<p><p>Allergic contact dermatitis (ACD) is a pruritic skin disease caused by environmental chemicals that induce cell-mediated skin inflammation within susceptible individuals. Irritant contact dermatitis (ICD) is caused by direct damage to the skin barrier by environmental insults. Diagnosis can be challenging because both types of contact dermatitis can appear similar by visual examination, and histopathological analysis does not reliably distinguish ACD from ICD. To discover specific biomarkers of ACD and ICD, we characterized the transcriptomic and proteomic changes that occur within the skin during each type of contact dermatitis. We induced ACD and ICD in healthy human volunteers and sampled skin using a nonscarring suction blister biopsy method that collects interstitial fluid and cellular infiltrate. Single-cell RNA sequencing analysis revealed that cell-specific transcriptome differences rather than cell-type proportions best distinguished ACD from ICD. Allergy-specific genes were associated with upregulation of IFNG, and cell signaling network analysis implicated several other genes such as IL4, despite their low expression levels. We validated transcriptomic differences with proteomic assays on blister fluid and trained a logistic regression model on skin interstitial fluid proteins that could distinguish ACD from ICD and healthy control skin with 93% sensitivity and 93% specificity.</p>","PeriodicalId":94239,"journal":{"name":"The Journal of investigative dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335604","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}
Norihiro Yoshimoto, Ken Muramastsu, Takamasa Ito, Miao Zheng, Kentaro Izumi, Ken Natsuga, Hiroaki Iwata, Yoshinori Hasegawa, Hideyuki Ujiie
{"title":"Type XVII Collagen-Specific CD4<sup>+</sup> T Cells Induce Bullous Pemphigoid by Producing IL-5.","authors":"Norihiro Yoshimoto, Ken Muramastsu, Takamasa Ito, Miao Zheng, Kentaro Izumi, Ken Natsuga, Hiroaki Iwata, Yoshinori Hasegawa, Hideyuki Ujiie","doi":"10.1016/j.jid.2024.08.026","DOIUrl":"10.1016/j.jid.2024.08.026","url":null,"abstract":"<p><p>Bullous pemphigoid is an autoimmune subepidermal blistering disease caused by anti-type XVII collagen (COL17) antibodies. Bullous pemphigoid has some immunological features such as eosinophilic infiltration and the deposition of IgE autoantibodies in the skin; however, the mechanism behind such features remains largely unclear. We focused on the autoantigen-specific CD4<sup>+</sup> T cells, which are considered to regulate immune response. We established COL17-specific CD4<sup>+</sup> T cell lines in vitro. Wild-type mice were immunized with synthesized peptides that include a pathogenic epitope of COL17, and lymphocytes were subjected to a limiting dilution assay. We established 5 T cell lines and examined the pathogenicity by transferring them with COL17-primed B cells into Rag-2<sup>-/-</sup>/COL17-humanized mice that express human COL17 but not mouse COL17 in the skin. Notably, 3 lines induced bullous pemphigoid-like skin changes associated with subepidermal separation and eosinophilic infiltration histologically and the production of anti-COL17 antibodies. The other 2 lines did not induce such phenotypes. RNA-sequencing analysis revealed that T helper 2 cytokines, particularly IL-5, were highly expressed in the pathogenic T-cell lines. Anti-IL-5 antibody administration significantly reduced the skin changes and attenuated the production of autoantibodies. Thus, the production of IL-5 is critical for COL17-specific CD4<sup>+</sup> T cells to induce bullous pemphigoid phenotypes in vivo.</p>","PeriodicalId":94239,"journal":{"name":"The Journal of investigative dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335605","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}
Irene Soler-Sáez, Alcida Karz, Marta R Hidalgo, Borja Gómez-Cabañes, Adolfo López-Cerdán, José F Català-Senent, Kylie Prutisto-Chang, Nicole M Eskow, Benjamin Izar, Torben Redmer, Swaminathan Kumar, Michael A Davies, María de la Iglesia-Vayá, Eva Hernando, Francisco García-García
{"title":"Unveiling Common Transcriptomic Features between Melanoma Brain Metastases and Neurodegenerative Diseases.","authors":"Irene Soler-Sáez, Alcida Karz, Marta R Hidalgo, Borja Gómez-Cabañes, Adolfo López-Cerdán, José F Català-Senent, Kylie Prutisto-Chang, Nicole M Eskow, Benjamin Izar, Torben Redmer, Swaminathan Kumar, Michael A Davies, María de la Iglesia-Vayá, Eva Hernando, Francisco García-García","doi":"10.1016/j.jid.2024.09.005","DOIUrl":"10.1016/j.jid.2024.09.005","url":null,"abstract":"<p><p>Melanoma represents a critical clinical challenge owing to its unfavorable outcomes. This type of skin cancer exhibits unique adaptability to the brain microenvironment, but its underlying molecular mechanisms are poorly understood. Recent findings have suggested that melanoma brain metastases may share biological processes similar to those found in various neurodegenerative diseases. To further characterize melanoma brain metastasis development, we explore the relationship between the transcriptional profiles of melanoma brain metastases and the neurodegenerative diseases Alzheimer's disease, Parkinson's disease, and multiple sclerosis. We take an in silico approach to unveil a neurodegenerative signature of melanoma brain metastases compared with those of melanoma nonbrain metastasis (53 dysregulated genes were enriched in 11 functional terms, such as associated terms to the extracellular matrix and development) and with those of nontumor-bearing brain controls (195 dysregulated genes, mostly involved in development and cell differentiation, chromatin remodeling and nucleosome organization, and translation). Two genes, ITGA10 and DNAJC6, emerged as key potential markers being dysregulated in both scenarios. Finally, we developed an open-source, user-friendly web tool (https://bioinfo.cipf.es/metafun-mbm/) that allows interactive exploration of the complete results.</p>","PeriodicalId":94239,"journal":{"name":"The Journal of investigative dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335606","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}
Manuela Pigors, Stephanie Goletz, Yao Wang, Shirin Emtenani, Christoph M Hammers, Maike M Holtsche, Sabrina Patzelt, Bianca Opelka, Felix H Stang, Inke R König, Christiane Radzimski, Lars Komorowski, Monique Aumailley, Cristina Has, Enno Schmidt
{"title":"Anti-Laminin β4 IgG Drives Tissue Damage in Anti-p200 Pemphigoid and Shows Interactions with Laminin α3 and γ1/2 Chains.","authors":"Manuela Pigors, Stephanie Goletz, Yao Wang, Shirin Emtenani, Christoph M Hammers, Maike M Holtsche, Sabrina Patzelt, Bianca Opelka, Felix H Stang, Inke R König, Christiane Radzimski, Lars Komorowski, Monique Aumailley, Cristina Has, Enno Schmidt","doi":"10.1016/j.jid.2024.08.004","DOIUrl":"https://doi.org/10.1016/j.jid.2024.08.004","url":null,"abstract":"<p><p>Laminin β4 was recently identified as a structural component of the dermal-epidermal junction and autoantigen of anti-p200 pemphigoid. In this study, we provided further evidence of the pathogenic effect of anti-laminin β4 IgG and identified potential binding partners of laminin β4. We showed that laminin β4 immune complexes led to activation of normal leukocytes and dose-dependent ROS release. Using cryosections of normal skin, we demonstrated that anti-laminin β4 patient serum IgG but not anti-laminin γ1 IgG, which are also detectable in patients with anti-p200 pemphigoid, cause dermal-epidermal separation in the presence of leukocytes. Proximity ligation assay and indirect immunofluorescence staining suggested that laminin β4 localizes closely to laminin α3 and γ2 in primary keratinocytes. Subsequent coimmunoprecipitation experiments using epidermal extracts confirmed the interaction of laminin β4 with the α3 and γ2 chains and indicated additional affinity to laminin γ1. The laminin β4-α3/β4-γ1 protein complexes were also detected using mass spectrometry. In conclusion, this study showed that anti-laminin β4 IgG can exert tissue damage in the skin, supporting their pathogenic role in anti-p200 pemphigoid. Our data further provide strong evidence for an interaction of laminin β4 with laminin α3, whereas its association to the laminin γ1 and γ2 chains is ambiguous.</p>","PeriodicalId":94239,"journal":{"name":"The Journal of investigative dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335595","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}
{"title":"Cutaneous T-Cell Lymphoma and Dupilumab Use: A Multifactorial and Complex Story.","authors":"Marie Beylot-Barry, Delphine Staumont-Salle","doi":"10.1016/j.jid.2024.08.015","DOIUrl":"https://doi.org/10.1016/j.jid.2024.08.015","url":null,"abstract":"","PeriodicalId":94239,"journal":{"name":"The Journal of investigative dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335597","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}
{"title":"The Skinny on Dermal Fat and Its Anti-Inflammatory Role in Psoriasis.","authors":"Yoshiaki Matsushima, Sam T Hwang, Scott I Simon","doi":"10.1016/j.jid.2024.07.031","DOIUrl":"https://doi.org/10.1016/j.jid.2024.07.031","url":null,"abstract":"","PeriodicalId":94239,"journal":{"name":"The Journal of investigative dermatology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142305327","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}