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.

Beyond the Surface: A Narrative Review Examining the Systemic Impacts of Recessive Dystrophic Epidermolysis Bullosa
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disease resulting from inadequate type VII collagen (C7). Although recurrent skin blisters and wounds are the most apparent disease features, the impact of C7 loss is not confined to the skin and mucous membranes. RDEB is a systemic disease marred by chronic inflammation, fibrotic changes, pain, itch, and anemia, significantly impacting QOL and survival. In this narrative review, we summarize these systemic features of RDEB and promising research avenues to address them. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 12, 2024 Category: Dermatology Authors: Courtney Popp, William Miller, Cindy Eide, Jakub Tolar, John A. McGrath, Christen L. Ebens Tags: Review Source Type: research

The ART(N) of Keratinocytes Leading Neurons into the Skin
Chronic itch is the most burdensome symptom among patients with atopic dermatitis (AD). Itch negatively affects sleep and QOL. Itch provokes the desire to scratch, leading to the vicious itch-scratch cycle that worsens epidermal barrier function and contributes to disease induction (St änderet al, 2024). Recent advances in immunology and neurobiology have led to the elucidation of neuro-immune mechanisms underpinning itch. The itch sensation requires the generation of action potentials initiated in sensory nerve fibers in the periphery. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 10, 2024 Category: Dermatology Authors: Lisa M. Kohl, Tina L. Sumpter Tags: Commentary Source Type: research

A Decade of Venture Investment in Artificial Intelligence in Dermatology Amidst Macroeconomic Shifts and Technological Advancements
Venture capital in dermatology has emerged as a key driver of innovation, significantly influencing the development of treatments, diagnostic tools, and patient care practices. This form of investment bridges the gap between groundbreaking research and its clinical application, fostering the creation of companies and scaling of cutting-edge technologies. The advent of artificial intelligence (AI) has led to a proliferation of startups leveraging this technology in various sectors, including medicine and dermatology, drawing substantial interest from the venture capital community. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 10, 2024 Category: Dermatology Authors: Vignesh Ramachandran, Neil K. Jairath, Seth J. Orlow Tags: News and perspectives Source Type: research

The Adaptive Immune System: A New Pseudoxanthoma Elasticum Protagonist?
Alterations in ABCC6 underpin pseudoxanthoma elasticum (PXE), a rare heritable disorder characterized by the degeneration of elastic fibers in the skin, eyes, and cardiovascular system. Given that ABCC6 is predominantly expressed in hepatocytes, research over the past 2 decades has traditionally focused on a liver-centric hypothesis underpinning PXE. However, an alternate cellular hypothesis in which resident cells in affected tissues play a prominent role has recently gained traction. Using a multipronged approach through histological, molecular, and pathological assessment, the study by Brampton et  al (2024) highlights...
Source: Journal of Investigative Dermatology - April 10, 2024 Category: Dermatology Authors: Vicky MacRae Tags: Commentary Source Type: research

Human Merkel cells as the initiator of mechanotransduction in skin: Linking the animal model to humans
Merkel cells (MCs) are required for light touch responses, and they form MC –neurite complexes with slowly adapting type I (SAI) fibers (Maricich et al., 2009). Recently, MC-Piezo2 signaling was reported to not only act as a touch detector but also to suppress itch circuitry in the spinal cord using the dry skin mouse model (Feng et al., 2018), which has shed light on pot ential new clinical and therapeutic approaches for a part of mechanical itch (Sakai& Akiyama, 2020). However, it is still unclear how well the properties of MCs align between animals and humans. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 10, 2024 Category: Dermatology Authors: Saito Sakaguchi, Moe Tsutsumi, Shinsuke Akita, Masashi Konyo, Kentaro Kajiya Tags: Letters to the Editor Source Type: research

Genetic variants associated with sweat gland phenotypes in 6,210 Han Chinese individuals
Sweat glands are widely distributed across human skin, playing an essential role in thermoregulation and body temperature maintenance, while sweat gland dysfunction is associated with various skin disorders, such as hyperhidrosis and anhidrosis (Asahina et al., 2015). Sweat gland density (SGD) varies significantly between and within ethnic groups (Lee et al., 2010). Despite the estimated heritability of SGD up to 0.66 (Scobbie and Sofaer, 1987), the underlying genetic factors and mechanisms responsible for this variation remain largely unexplored. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 10, 2024 Category: Dermatology Authors: Wenyan Chen, Jinxi Li, Ke Xu, Junyu Luo, Mengran Wang, Yu Liu, Fudi Wang, Siyuan Du, Wenjie Xu, Jieyu Ge, Yi Li, Bingfei Fu, Jingze Tan, Yajun Yang, Jiucun Wang, Xiangyang Xue, Li Jin, Zhaohui Yang, Fan Liu, Sijia Wang Tags: Letters to the Editor Source Type: research

Commensal skin bacteria exacerbate inflammation and delay skin barrier repair
The skin microbiome can both trigger beneficial immune stimulation and pose a potential infection threat. Previous studies have shown that colonization of mouse skin with the model human skin commensal Staphylococcus epidermidis is protective against subsequent excisional wound or pathogen challenge. However, less is known about concurrent skin damage and exposure to commensal microbes, despite growing interest in interventional probiotic therapy. Here, we address this open question by applying commensal skin bacteria at a high dose to abraded skin. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 9, 2024 Category: Dermatology Authors: Veda D. Khadka, Laura Markey, Magalie Boucher, Tami D. Lieberman Tags: Original Article Source Type: research

Lipid nanoparticles efficiently deliver the base editor ABE8e for COL7A1 correction in dystrophic epidermolysis bullosa fibroblasts in vitro.
Lipid nanoparticles (LNPs) have been widely approved and used on a global scale for delivery of mRNA. LNPs can package and deliver mRNA encoding gene editors, including adenine base editors (ABEs), which convert A •T base pairs to G•C base pairs without double-stranded DNA breaks or donor DNA (Gaudelli et al. 2017). ABE is a potential treatment approach for the inherited blistering disease dystrophic epidermolysis bullosa (DEB). DEB results from pathogenic variants in COL7A1, leading to dysfunctional or a bsent type VII collagen (C7), a major component of anchoring fibrils (AFs) that adhere the dermal-epidermal junctio...
Source: Journal of Investigative Dermatology - April 5, 2024 Category: Dermatology Authors: Ina Guri-Lamce, Yara Alrokh, Carina Graham, Ruhina Maeshima, Emanuel Rognoni, Matthew Caley, Łukasz Łaczmański, Stephen L. Hart, John A. McGrath, Joanna Jacków-Malinowska Tags: Letters to the Editor Source Type: research

Systemic inflammation, the peripheral blood transcriptome and primary melanoma
Peripheral blood transcriptomes from 383 newly-diagnosed melanoma patients were subjected to differential gene expression analysis. The hypotheses were that impaired systemic immunity is associated with poorer prognosis (thicker tumors and fewer tumor infiltrating lymphocytes (TILs)) and evidence of systemic inflammation (high-sensitivity C-reactive protein (hsCRP) and fibrinogen levels). Higher fibrinogen levels were associated with thicker primaries. In single gene analysis hsCRP levels were significantly associated with higher blood CD274 expression, (coding for PD-L1), but each was independently prognostic, with hsCRP ...
Source: Journal of Investigative Dermatology - April 5, 2024 Category: Dermatology Authors: Juliette Randerson-Moor, John Davies, Mark Harland, J érémie Nsengimana, Theophile Bigirumurame, Christopher Walker, Jon Laye, Elizabeth S, Appleton, Graham Ball, Graham P. Cook, D Timothy Bishop, Robert J. Salmond, Julia Newton-Bishop Tags: Original Article Source Type: research

Dermatologists ’ perspectives and usage of large language models in practice- an exploratory survey
To the Editor: The advent of artificial intelligence (AI) presents multiple avenues for the application of new technologies to medicine, including the use of computer vision to interpret clinical images and large-language models (LLMs) to analyze and synthesize text-based healthcare data (Rajpurkar and Lungren 2023). Nevertheless, healthcare systems must assess best practices in incorporating these technologies into clinical practice. Physicians must balance the analytical strengths of AI technologies with their shortcomings, such as ethical considerations surrounding AI-induced medical errors and their potential to perpet...
Source: Journal of Investigative Dermatology - April 4, 2024 Category: Dermatology Authors: Haiwen Gui, Shawheen J. Rezaei, Daniel Schlessinger, Jason Weed, Jenna Lester, Shannon Wongvibulsin, Dom Mitchell, Justin Ko, Veronica Rotemberg, Ivy Lee, Roxana Daneshjou Tags: Letters to the Editor Source Type: research

The molecular evolution of melanoma distant metastases
We examined the genomic diversity in melanoma progression in matched primary melanomas, lymph node and distant metastases from 17 patients. Fluorescence in situ hybridization (FISH) analysis revealed cancer cell fractions with monotonic copy number alterations (CNAs), including PHIP gain and PTEN loss, in the metastatic cascade. By contrast, the cancer cell fraction with CNAs for BPTF and MITF was reduced in lymph node metastases but increased in distant metastases. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 4, 2024 Category: Dermatology Authors: Vladimir Bezrookove, Sara Kianian, Lea McGeever, Robyn Jones, Chongshan Caressi, Mehdi Nosrati, Kevin B. Kim, Stanley P. Leong, James R. Miller, Pierre-Yves Desprez, Mohammed Kashani-Sabet Tags: Original Article Source Type: research

Accelerated Closure of Diabetic Wounds by Efficient Recruitment of Fibroblasts upon Inhibiting a 14-3-3/ROCK Regulatory Axis
Chronic non-healing wounds negatively impact on quality of life and are a significant financial drain on health systems. The risk of infection that exacerbates co-morbidities in patients necessitates regular application of wound care. Understanding mechanisms underlying impaired wound healing are therefore a key priority to inform effective new generation treatments. Here, we demonstrate that 14-3-3-mediated suppression of signaling through ROCK is a critical mechanism that inhibits the healing of diabetic wounds. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 4, 2024 Category: Dermatology Authors: M. Zahied Johan, Natasha T. Pyne, Natasha Kolesnikoff, Valentina Poltavets, Zahra Esmaeili, Joanna M. Woodcock, Angel F. Lopez, Allison J. Cowin, Stuart M. Pitson, Michael S. Samuel Tags: Original Article Source Type: research

ASH2L mediates epidermal differentiation and hair follicle morphogenesis via H3K4me3 modification
The processes of epidermal development in mammals are regulated by complex molecular mechanisms, such as histone modifications. Histone H3 lysine K4 (H3K4) methylation mediated by COMPASS methyltransferase is associated with gene activation, but its effect on epidermal lineage development remains unclear. Therefore, we constructed a mouse model of specific ASH2L (COMPASS methyltransferase core subunit) deletion in epidermal progenitor cells and investigated its effect on the development of mouse epidermal lineage. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 4, 2024 Category: Dermatology Authors: Qirui Wang, Siyi Zeng, Yimin Liang, Renpeng Zhou, Danru Wang Tags: Original Article Source Type: research

E3 ubiquitin ligase NEDD4L negatively regulates skin tumorigenesis by inhibiting of IL-6/GP130 signaling pathway
In this study, protein expression levels of NEDD4L and GP130 were measured in tumor tissues from patients with cutaneous squamous cell carcinoma (cSCC). (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 3, 2024 Category: Dermatology Authors: Huan Liu, Ning Wang, Run Yang, Jing Luan, Meng Cao, Cui Zhai, Shan Wang, Mengqian Wei, Duorong Wang, Jiayue Qiao, Yuqian Liu, Wenting She, Na Guo, Bo Liao, Xingchun Gou Tags: Original Article Source Type: research

Neutrophil-driven M2-like macrophages are critical for skin fibrosis in a systemic sclerosis model
In this study, we elucidated that CD206hiMHCIIlo M2-like macrophages constitute the predominant pathogenic immune cell population in the fibrotic skin of a bleomycin (BLM)-induced SSc mouse model. These cells emerged as pivotal contributors to the profibrotic response by orchestrating the production of TGF- β1 through a MerTK signaling-dependent manner. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 3, 2024 Category: Dermatology Authors: Pixia Gong, Yayun Ding, Wen Li, Jie Yang, Xiao Su, Ruifeng Tian, Yipeng Zhou, Tingting Wang, Junjie Jiang, Rui Liu, Jiankai Fang, Chao Feng, Changshun Shao, Yufang Shi, Peishan Li Tags: Original Article Source Type: research