Journal of Investigative Dermatology This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Genotype –Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity
This study evaluated the genetic and clinical findings from a JEB cohort, investigati ng genotype–phenotype correlations through bioinformatic analyses and comparison with previously reported variants. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - December 27, 2023 Category: Dermatology Authors: David Wen, Manrup Hunjan, Ajoy Bardhan, Natasha Harper, Malobi Ogboli, Linda Ozoemena, Lu Liu, Jo-David Fine, Iain Chapple, Dario L. Balacco, Adrian Heagerty Tags: Original Article Source Type: research

How Foundation Models Are Shaking the Foundation of Medical Knowledge
The recent letter to the editor by Mirza et  al (2023), published in The Journal of Investigative Dermatology, showcases the successful application of publicly available chatbots (GPT-3.5, GPT-4, and Google Bard) to the dermatology board examination. Their results not only complement those of many similar studies in other medical and nonmedi cal disciplines but also demonstrate the rapid, ongoing advances in artificial intelligence (AI) (Kung et al, 2023). They highlight the swift development in the field, as evidenced by the finding that GPT-4 significantly outscored GPT-3.5, and illustrate the applicability of AI to th...
Source: Journal of Investigative Dermatology - December 27, 2023 Category: Dermatology Authors: Harald Kittler, Allan Halpern Tags: Commentary Source Type: research

Acquisition of drug resistance in basal cell nevus syndrome tumors through basal to squamous cell carcinoma transition
While basal cell carcinomas (BCCs) arise from ectopic hedgehog pathway activation and can be treated with pathway inhibitors, sporadic BCCs display high resistance rates while tumors arising in Gorlin syndrome patients with germline Patched (PTCH1) mutations are uniformly suppressed by inhibitor therapy. In rare cases, Gorlin syndrome patients on long-term inhibitor therapy will develop individual resistant tumor clones that rapidly progress, but the basis of this resistance remains unstudied. Here we report a case of an SMOi-resistant tumor arising in a Gorlin patient on suppressive SMOi for nearly a decade. (Source: Jour...
Source: Journal of Investigative Dermatology - December 27, 2023 Category: Dermatology Authors: Anna R. Jussila, Daniel Haensel, Sadhana Gaddam, Anthony E. Oro Tags: Original Article Source Type: research

Genotype-phenotype correlation in Junctional Epidermolysis Bullosa: signposts to severity
This study evaluated genetic and clinical findings from a JEB cohort, investigating genotype-phenotype correlations through bioinformatic analyses and comparison with previously reported mutations. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - December 27, 2023 Category: Dermatology Authors: David Wen, Manrup Hunjan, Ajoy Bardhan, Natasha Harper, Malobi Ogboli, Linda Ozoemena, Lu Liu, Jo-David Fine, Iain Chapple, Dario L. Balacco, Adrian Heagerty Tags: Original Article Source Type: research

Neutrophil-derived microRNA-1290 promotes keratinocyte proliferation in psoriasis
The pathological hallmark of psoriasis is the infiltration of neutrophils into the skin. Some neutrophil-derived microRNAs (miRNAs) serve as biomarkers for various diseases, but none have been reported for psoriasis. Here, we investigated the involvement of miRNAs released from neutrophils in psoriasis pathogenesis. We compared the expression of miRNAs in the sera of patients with psoriasis and healthy individuals and found that the expression of two miRNAs, miR-223 and miR-1290, was significantly upregulated in the sera of patients with psoriasis. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - December 27, 2023 Category: Dermatology Authors: Yuko Higashi, Munekazu Yamakuchi, Atsuko Ibusuki, Aoi Okubo, Tomoko Fukushige, Teruto Hashiguchi, Takuro Kanekura Tags: Original Article Source Type: research

MCPIP1 Controls the Effects of Myeloid Cells on Skin Carcinogenesis and Hair Growth
MCPIP1 or Regnase-1 is an RNase with anti-inflammatory properties (Matsushita et  al, 2009). Expression of MCPIP1, encoded by the gene ZC3H12A, is impaired in several types of cancer (Miekus et al, 2019). Because the immune system is a key element in the etiology of cancers, we hypothesized that MCPIP1 of myeloid cells is important in the crosstalk between the immune system an d cells of developing tumors. To test this hypothesis, we used mice lacking MCPIP1 in cells of myeloid origin (ie, Mcpip1MKO mice), including macrophages and granulocytes, in a chemical carcinogenesis model of epithelial skin cancer. (Source: Journ...
Source: Journal of Investigative Dermatology - December 26, 2023 Category: Dermatology Authors: Weronika Szukala, Izabela Rumienczyk, Michal Mikula, Krzysztof Goryca, Leopold Eckhart, Joanna Koziel, Jolanta Jura, Agata Lichawska-Cieslar Tags: Letters to the Editor Source Type: research

Role of Antigenic Stimulation in Cutaneous T-Cell Lymphomas
Cutaneous T-cell lymphoma (CTCL) involves a clonal expansion of malignant cells accumulating in the skin, a primary barrier site. CTCL has long been hypothesized to be caused or perpetuated by chronic antigen stimulation due to unknown exposures. These antigenic triggers, defined as any element that may cause activation of malignant T cells through TCR signaling, have been hypothesized to range from chemicals to microbes. This review covers current evidence supporting chemical and microbial stimuli that may act as antigenic triggers of CTCL and summarizes novel areas of investigation, in which the potential antigenicity of...
Source: Journal of Investigative Dermatology - December 26, 2023 Category: Dermatology Authors: Megan E. Gumina, Madeline J. Hooper, Xiaolong A. Zhou, Sergei B. Koralov Tags: Review Source Type: research

MCPIP1 controls effects of myeloid cells on skin carcinogenesis and hair growth
Monocyte chemotactic protein-induced protein-1 (MCPIP1), or Regnase-1, is an RNase with anti-inflammatory properties (Matsushita et al. 2009). Expression of MCPIP1, encoded by the gene ZC3H12A, is impaired in several types of cancer (Miekus et al. 2019). As the immune system is a key element in the etiology of cancers, we hypothesized that MCPIP1 of myeloid cells is important in the crosstalk between the immune system and cells of developing tumors. To test this hypothesis, we used mice lacking Mcpip1 in cells of myeloid origin (Mcpip1MKO), including macrophages and granulocytes, in a chemical carcinogenesis model of epith...
Source: Journal of Investigative Dermatology - December 26, 2023 Category: Dermatology Authors: Weronika Szukala, Izabela Rumienczyk, Michal Mikula, Krzysztof Goryca, Leopold Eckhart, Joanna Koziel, Jolanta Jura, Agata Lichawska-Cieslar Tags: Letters to the Editor Source Type: research

Fibroblast Subpopulations in Systemic Sclerosis: Functional Implications of Individual Subpopulations and Correlations with Clinical Features
In this study, we integrated single-cell RNA-sequencing and bulk RNA-sequencing data as well as clinical information to study the role of individual fibroblast populations in systemic sclerosis (SSc). SSc skin demonstrated an increased abundance of COMP+, COL11A1+, MYOC+, CCL19+, SFRP4/SFRP2+, and PRSS23/SFRP2+ fibroblasts signatures and decreased proportions of CXCL12+ and PI16+ fibroblast signatures in the Prospective Registry of Early Systemic Sclerosis and Genetics versus Environment in Scleroderma Outcome Study cohorts. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - December 23, 2023 Category: Dermatology Authors: Honglin Zhu, Hui Luo, Brian Skaug, Tracy Tabib, Yi-Nan Li, Yongguang Tao, Alexandru-Emil Matei, Marka A. Lyons, Georg Schett, Robert Lafyatis, Shervin Assassi, J örg H.W. Distler Tags: Original Article Source Type: research

Fibroblast subpopulations in Systemic Sclerosis – Functional implications of individual subpopulations and correlations with clinical features
Fibroblasts constitute a heterogeneous population of cells. Here, we integrated scRNA-seq and bulk RNA-seq data as well as clinical information to study the role of individual fibroblast populations in Systemic Sclerosis (SSc). SSc skin demonstrated increased abundance of COMP+, COL11A1+, MYOC+, CCL19+, SFRP4/SFRP2+ and PRSS23/SFRP2+ fibroblasts signatures, and decreased proportions of CXCL12+ and PI16+ fibroblast signatures in the PRESS and GENISOS cohorts. Numerical differences were confirmed by multicolor immunofluorescence for selected fibroblast populations. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - December 23, 2023 Category: Dermatology Authors: Honglin Zhu, Hui Luo, Brian Skaug, Tracy Tabib, Yi-Nan Li, Yongguang Tao, Alexandru-Emil Matei, Marka A. Lyons, Georg Schett, Robert Lafyatis, Shervin Assassi, J örg H.W. Distler Tags: Original Article Source Type: research

Erratum
Correction to "Genetic Analysis of MPO Variants in Four Psoriasis Subtypes in Patients from Germany" (https://doi.org/10.1016/j.jid.2021.01.017) (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - December 22, 2023 Category: Dermatology Tags: Erratum Source Type: research

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Correction to "Genetic Analysis of MPO Variants in Four Psoriasis Subtypes in Patients from Germany" (https://doi.org/10.1016/j.jid.2021.01.017) (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - December 22, 2023 Category: Dermatology Tags: Corrigendum Source Type: research

CD69 Is Indispensable for Development of Functional Local Immune Memory in Murine Contact Hypersensitivity
In this study, by inducing contact hypersensitivity (CHS) in CD69KO (CD69-deficient) and CD103-deficient mice, where different degrees of TRM cell contribution are observed by repeated challenges on the right ear and a single challenge on the left ear, we found that the deficiency of CD69 but not CD103 leads to impaired CHS upon repeated antigen challenges, even although TRM cells –like CD8 T cells developed at the challenged site of CD69KO. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - December 20, 2023 Category: Dermatology Authors: Shuichi Nakai, Miki Kume, Yutaka Matsumura, Hanako Koguchi-Yoshioka, Shoichi Matsuda, Manabu Fujimoto, Rei Watanabe Tags: Original Article Source Type: research

CD69 is indispensable for the development of functional local immune memory in murine contact hypersensitivity
Local immune memory develops at the site of antigen exposure and facilitates a rapid and strong local adaptive defense upon re-exposure. Resident memory T cells (TRM) play a role in local immune memory, and their cell-surface molecules CD69 and CD103 promote their tissue residency. However, the contribution of these molecules to skin immune memory remains unclear. Here, by inducing CHS in CD69-deficient (CD69KO) and CD103-deficient mice, where different degrees of TRM contribution are observed by repeated challenges on the right ear and a single challenge on the left ear, we found that the deficiency of CD69 but not CD103,...
Source: Journal of Investigative Dermatology - December 20, 2023 Category: Dermatology Authors: Shuichi Nakai, Miki Kume, Yutaka Matsumura, Hanako Koguchi-Yoshioka, Shoichi Matsuda, Manabu Fujimoto, Rei Watanabe Tags: Original Article Source Type: research

A20 Haploinsufficiency: A Systematic Review of 177 Cases
A20 haploinsufficiency is an autoinflammatory disease caused by defective inactivation of the NF- κB pathway. We conducted a systematic literature review of articles reporting patients with TNFAIP3 sequence variants from 2016 to August 2023 following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Data from 177 patients from 65 articles were retrieved (10 8 women). The principal features were mucosal ulcers (n = 129); fever (n = 93) followed by gastrointestinal (n = 81); skin features (n = 76); autoimmunity (n = 61), including thyroiditis (n = 25) and lupus (n = 16); and join...
Source: Journal of Investigative Dermatology - December 19, 2023 Category: Dermatology Authors: In ès Elhani, Quentin Riller, Guilaine Boursier, Véronique Hentgen, Frédéric Rieux-Laucat, Sophie Georgin-Lavialle Tags: Original Article Source Type: research