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Enhancer of Zeste Homolog 2 Inhibition Induces HLA Class I Re-Expression in Merkel Cell Carcinoma
Merkel cell carcinoma (MCC) is a rare primary cutaneous neuroendocrine carcinoma with frequent metastases and poor outcomes (Dellambra et  al, 2021). MCC can be induced either by Merkel cell polyomavirus or by UV exposure, both resulting in the expression of immunogenic proteins, that is, viral antigens or neoantigens, respectively. Accordingly, immune escape mechanisms such as T-cell exhaustion through the expression of PD-1 (Afanas iev et al, 2013) and PD-L1 (Dellambra et al, 2021) in the tumor microenvironment are frequently observed in MCC tumors. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - December 2, 2023 Category: Dermatology Authors: Marie-Alice Durand, Aur élie Drouin, Kamel Bachiri, Laurine Durand, Patricia Berthon, Roland Houben, David Schrama, Etienne Coyaud, Mahtab Samimi, Antoine Touzé, Thibault Kervarrec Tags: Letters to the Editor Source Type: research

EZH2 inhibition induces HLA class I re-expression in Merkel Cell Carcinoma
Merkel cell carcinoma (MCC) is a rare primary cutaneous neuroendocrine carcinoma with frequent metastases and poor outcome (Dellambra et al. 2021). MCC can be induced either by Merkel cell polyomavirus or by UV exposure both resulting in the expression of immunogenic proteins, i.e., viral antigens or neoantigens, respectively. Accordingly, immune escape mechanisms such as T-cell exhaustion through the expression of PD-1 (Afanasiev et al. 2013) and PD-L1 (Dellambra et al. 2021) in the tumor microenvironment are frequently observed in MCC tumors. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - December 2, 2023 Category: Dermatology Authors: Marie-Alice Durand, Aur élie Drouin, Kamel Bachiri, Laurine Durand, Patricia Berthon, Roland Houben, David Schrama, Etienne Coyaud, Mahtab Samimi, Antoine Touzé, Thibault Kervarrec Tags: Letters to the Editor Source Type: research

Highly Efficient Ex  Vivo Correction of COL7A1 through Ribonucleoprotein-Based CRISPR/Cas9 and Homology-Directed Repair to Treat Recessive Dystrophic Epidermolysis Bullosa
In this study, we achieved highly efficient COL7A1 editing in primary RDEB keratinocytes and fibroblasts from 2 patients homozygous for the c.6508C>T (p.Gln2170 ∗) variant through CRISPR/Cas9-mediated homology-directed repair. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - December 1, 2023 Category: Dermatology Authors: Camille Berthault, Sonia Gaucher, Olivier Gouin, Alain Schmitt, Mei Chen, David Woodley, Matthias Titeux, Alain Hovnanian, Araksya Izmiryan Tags: Original Article Source Type: research

Highly efficient ex-vivo correction of COL7A1 through RNP-based CRISPR/Cas9 and Homology-Directed Repair to treat recessive dystrophic epidermolysis bullosa
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare and severe genetic skin disease responsible for blistering of the skin and mucosa after minor trauma. RDEB is caused by a wide variety of mutations in COL7A1 encoding C7, the major component of anchoring fibrils (AFs) which form key attachment structures for dermal-epidermal adherence.Here, we achieved highly efficient COL7A1 editing in primary RDEB keratinocytes (RDEB-K) and fibroblasts (RDEB-F) from two patients homozygous for the c.6508C>T (p.Gln2170*) mutation through CRISPR/Cas9-mediated Homology-Directed Repair. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - December 1, 2023 Category: Dermatology Authors: Camille Berthault, Sonia Gaucher, Olivier Gouin, Alain Schmitt, Mei Chen, David Woodley, Matthias Titeux, Alain Hovnanian, Araksya Izmiryan Tags: Original Article Source Type: research

Fibronectin promotes wound healing in an atopic human skin xenografting model
Atopic dermatitis (AD) is a chronic, inflammatory skin disease characterized by dry and itchy lesions that can be localized or extend over large portions of the body. Skin lesions in AD patients have increased expression of Th2 cytokines, and IL-4 promotes the pathogenesis of AD and skin fibrotic remodeling. Human skin biopsies and primary keratinocytes stimulated with IL-4 demonstrate diminished epidermal differentiation complex (EDC) gene expression (Howell et al., 2007). Our previous reports have shown that mutations of EDC genes and increased Th2 responses cooperate to exacerbate diminished barrier function in the Stat...
Source: Journal of Investigative Dermatology - November 30, 2023 Category: Dermatology Authors: Wenwu Zhang, Nahid Akhtar, Jennifer Zhao, Dan F. Spandau, Mark H. Kaplan Tags: Letters to the Editor Source Type: research

Delayed collagen production without myofibroblast formation contributes to reduced scarring in adult skin micro-wounds
In adult mammals, wound healing predominantly follows a fibrotic pathway, culminating in scar formation. However, cutaneous micro-wounds generated via fractional photothermolysis, a modality that produces a constellation of microthermal zones (MTZs), exhibit a markedly different healing trajectory. Our study delineates the cellular attributes of these MTZs, underscoring a temporally limited, subclinical inflammatory milieu concomitant with rapid re-epithelialization within 24 hours. This wound closure is facilitated by the activation of genes associated with keratinocyte migration and differentiation. (Source: Journal of I...
Source: Journal of Investigative Dermatology - November 28, 2023 Category: Dermatology Authors: Chen-Hsiang Kuan, Kang-Yu Tai, Shao-Chi Lu, Yueh-Feng Wu, Pei-Shan Wu, Nellie Kwang, Wei-Hung Wang, Sabrina Mai-Yi Fan, Shiou-Han Wang, Hsiung-Fei Chien, Hong-Shiee Lai, Miao-Hsia Lin, Maksim V. Plikus, Sung-Jan Lin Tags: Original Article Source Type: research

Association of the complement system with subclinical atherosclerosis in psoriasis: findings from an observational cohort study
Psoriasis is a chronic and inflammatory disease that affects the skin and joints, and is associated with multiple co-morbidities and cardiovascular risk factors. Consequently, patients with psoriasis have an increased risk of cardiovascular diseases like atherosclerosis, a chronic pathology that shares common inflammatory and immune-response mechanisms with psoriasis, including vascular inflammation and complement activation. To better understand the relationship between atherosclerosis and psoriasis, a proteomics study followed by a bioinformatics analysis was carried out, with a subsequent validation step using ELISA and...
Source: Journal of Investigative Dermatology - November 28, 2023 Category: Dermatology Authors: Laura Mourino-Alvarez, In és Perales-Sanchez, Emilio Berna-Rico, Carlota Abbad-Jaime de Aragon, Nerea Corbacho-Alonso, Tamara Sastre Oliva, Cristina Juarez-Alia, Asunción Ballester-Martinez, Maria Castellanos-Gonzalez, Mar Llamas-Velasco, Pedro Jaen, Jo Tags: Original Article Source Type: research

Deciphering Tumor Cell Evolution in Cutaneous T-Cell Lymphomas: Distinct Differentiation Trajectories in Mycosis Fungoides and S ézary Syndrome
Cutaneous T-cell lymphomas are a heterogeneous group of neoplasms originating in the skin, with mycosis fungoides (MF) and S ézary syndrome (SS) representing the most common variants. The cellular origin of cutaneous lymphomas has remained controversial due to their immense phenotypic heterogeneity that obfuscates lineage reconstruction based on classical surface biomarkers. To overcome this heterogeneity and reconstruct the differentiation trajectory of malignant cells in MF and SS, T-cell receptor sequencing was performed in parallel with targeted transcriptomics at the single-cell resolution among cutaneous samples in ...
Source: Journal of Investigative Dermatology - November 28, 2023 Category: Dermatology Authors: Tony T. Jiang, Simon Cao, Oleg Kruglov, Aman Virmani, Larisa J. Geskin, Louis D. Falo, Oleg E. Akilov Tags: Original Article Source Type: research

Restoring Endoplasmic Reticulum Calcium Stores in Aged Epidermis Improves the Epidermal Calcium Gradient and Enhances Filaggrin Expression
Aging impairs epidermal differentiation and barrier function, making aged skin susceptible to dryness, dermatitis and infection. Here, we show that pharmacologically enhancing endoplasmic reticulum Ca2+ stores with CDN 1163, a small molecular SERCA2b allosteric activator, corrects age-related defects in Ca2+ storage in aged keratinocytes, partially corrects the abnormal Ca2+ gradient seen in aged epidermis, and enhances filaggrin expression in aged skin samples. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - November 28, 2023 Category: Dermatology Authors: Anna Celli, Marquel Pitchford, Nandou Lu, Andrew E. Mayes, Richard L. Evans, Theodora M. Mauro Tags: Letters to the Editor Source Type: research

WTAP-Mediated N6-Methyladenosine of RNAs Facilitate the Pathophysiology of Atopic Dermatitis
N6-methyladenosine (m6A) is the most abundant dynamic and reversible internal chemical modification of RNA in eukaryotic cells and is essential in multiple pathophysiological processes. However, it has not been reported in atopic dermatitis (AD). We used Arraystar m6A-mRNA epitranscriptomic microarray to screen for differentially expressed genes (DEGs) and their m6A levels, and m6A-related enzymes in patients with AD. We confirmed that the m6A RNA methyltransferase Wilms tumor 1-associated protein (WTAP) and two candidate DEGs (S100 calcium-binding protein A9 [S100A9] and serpin peptidase inhibitor, clade B (ovalbumin), me...
Source: Journal of Investigative Dermatology - November 27, 2023 Category: Dermatology Authors: Lina Tan, Xue Chen, Siyu Yan, Aiyuan Guo, Lihua Gao, Lu Zhou, Yanping Zhou, Jinrong Zeng, Jianyun Lu Tags: Original Article Source Type: research

Variants in the TERT gene increase the occurrence of solar lentigines by modifying telomerase expression exclusively in the skin
Solar lentigines (SL) are a characteristic of the aging skin. There is a huge interindividual variability in the number of SL that are determined by a combination of genetic and environmental factors. While sun exposure represents the most important environmental factor (Bastiaens et al., 2004), the search for genetic susceptibility variants is still ongoing. Recently, a genome-wide association study (GWAS) in two Chinese cohorts (n=5,918) reported TERT (telomerase reverse transcriptase; top SNP rs2853672, p=5.68E-42) and OCA2 (oculocutaneous albinism II; rs1800414, p=4.67E-8) as two previously unreported genome-wide signi...
Source: Journal of Investigative Dermatology - November 26, 2023 Category: Dermatology Authors: Laura Deecke, Olena Ohlei, Jan Homann, Jessica Stagge, Valerija Dobricic, Elisabeth Steinhagen-Thiessen, Klaus Berger, Ilja Demuth, Victoria Hagelstein, Lars Bertram, Christina M. Lill Tags: Letters to the Editor Source Type: research

Characterization of patient-derived GNAQ mutated endothelial cells from capillary malformations
Capillary malformations (port-wine stains) are congenital skin lesions that are characterized by dilated capillaries and post-capillary venules. Capillary malformations are caused by altered functioning of the vascular endothelium. Somatic genetic mutations have predominantly been identified in the endothelial cells of capillary malformations, providing an opportunity for the development of targeted therapies. However, there is currently limited in-depth mechanistic insight in the pathophysiology and a lack of pre-clinical research approaches. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - November 25, 2023 Category: Dermatology Authors: Ginger Beau Langbroek, Merel L.E. Stor, Vera Janssen, Annett de Haan, Sophie E.R. Horbach, Mariona Graupera, Carel J.M. van Noesel, Chantal M.A.M. van der Horst, Albert Wolkerstorfer, Stephan Huveneers Tags: Original Article Source Type: research

Comment on Xia et  al “Outcome measures for alopecia areata”
In a recent publication in the Journal of Investigative Dermatology, Xia et  al (2023) collated the existing clinician-reported outcome measures (ClinROMs) and patient-reported outcome measures for the assessment of alopecia areata (AA) and reported the frequency of usage of various outcome measures, through a systematic scoping review. The following issues can be drawn fr om the study of Xia et al (2023) that require further debate. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - November 24, 2023 Category: Dermatology Authors: Emadodin Darchini-Maragheh, Rodney Sinclair Tags: Letters to the Editor Source Type: research

Response to Surber and Osterwalder
We thank Surber and Osterwalder for emphasizing the limitations and widespread misunderstanding of the SPF rating system for sunscreen products, as required by the Food and Drug Administration (FDA) and its European and far-Eastern counterparts. Of note, however, their Figure 1. “Definition of the sun protection factor” is mislabeled, as the SPF is by definition the sun exposure time for sunscreen-protected skin to develop delayed erythema divided by that of unprotected skin (Pathak et al, 1983). (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - November 24, 2023 Category: Dermatology Authors: Barbara A. Gilchrest, Xuefei Bai Tags: Letters to the Editor Source Type: research

Comment on Xia et al. ” Outcome measures for alopecia areata”
In a recent publication in the Journal of Investigative Dermatology, Xia and colleagues collated the existing clinician-reported outcome measures (ClinROMs) and patient-reported outcome measures (PROMS) for the assessment of alopecia areata (AA) and reported the frequency of usage of various outcome measures, through a systematic scoping review (Xia et al., 2023). The following issues can be drawn from the study of Xia et al. that require further debate. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - November 24, 2023 Category: Dermatology Authors: Emadodin Darchini-Maragheh, Rodney Sinclair Tags: Letters to the Editor Source Type: research