Journal Of Investigative Dermatology

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Table of Contents

Thu, 2019-08-01 00:00

Subscription Information

Thu, 2019-08-01 00:00

Editorial Board

Thu, 2019-08-01 00:00

Cells to Surgery Quiz: August 2019

Thu, 2019-08-01 00:00
Editorial note: Welcome to the Journal of Investigative Dermatology (JID) Cells to Surgery Quiz. In this monthly online-only quiz, the first question (“What is your diagnosis?”) relates to the clinical image shown, while additional questions concern the findings reported in the JID article by Bhat et al. (2019) (https://doi.org/10.1016/j.jid.2018.10.024).

Clinical Snippets

Thu, 2019-08-01 00:00
Two papers in this issue highlight gene therapy for skin fragility diseases. March and colleagues employed the transcription activator-like effector nuclease to disrupt dominant-negative epidermolytic ichthyosis–causing mutations in keratin 10 (KRT10) alleles in keratinocytes, showing abrogation of disease phenotypes in a murine model. Takashima and colleagues employed a different nuclease system, CRISPR/Cas9, to co-opt non-homologous end-joining to correct a common frameshift mutation in one of the alleles of the collagen type VII (COL7A1) gene, restoring COL7A1 expression in recessive dystrophic epidermolysis bullosa fibroblast cell lines and COL7A1 function and distribution in vivo.

Editors’ Picks

Thu, 2019-08-01 00:00
Using shotgun metagenomic sequencing in a longitudinal prospective study, Kalan and colleagues examined the strain-level diversity of the microbiota in neuropathic diabetic foot ulcers, which are chronic wounds that cause considerable morbidity and mortality in the increasing population of patients with diabetes. These investigators identified Staphylococcus aureus strains that were present in a majority of the wounds, as well as those that were exclusively associated with unhealed wounds. Strains associated with poor wound healing harbored antibiotic resistance genes and genes encoding enterotoxins.

SnapshotDx Quiz: August 2019

Thu, 2019-08-01 00:00
Editorial note: Welcome to the Journal of Investigative Dermatology (JID) Snapshot Dx Quiz. In this monthly online-only quiz, the first question (“What is your diagnosis?”) relates to the clinical image shown, while additional questions concern the findings reported in the JID article by Hochfeld et al. (2019) (https://doi.org/10.1016/j.jid.2018.06.182).

Research Techniques Made Simple:Teledermatology in Clinical Trials

Thu, 2019-08-01 00:00
Telemedicine is well established as a means of providing high-quality healthcare at a distance, particularly to patients in underserved populations. Technologies in teledermatology can be used to complement traditional methodologies of clinical trials, expanding accessibility of trials to people typically unable to participate in research. Tools of communication technology may enhance many aspects of clinical trials in dermatology, from recruitment and retention of participants to collection of real-time data.

Gene Therapy for Skin Fragility Diseases: The New Generation

Thu, 2019-08-01 00:00
Ex vivo gene therapy is a promising approach to treat devastating skin fragility diseases. March et al. and Takashima et al. report that programmable nucleases—TALENs and CRISPR/Cas9—can safely and efficiently correct genetic defects in cultured adult skin cells, paving the way for broader clinical applications of gene therapies in dermatology.

MicroRNA-34 family enhances wound inflammation by targeting LGR4

Wed, 2019-07-31 00:00
Venous ulcers (VU) are the most common type of human chronic non-healing wounds and stalled in a constant and excessive inflammatory state. The molecular mechanisms underlying the chronic wound inflammation remains elusive. Moreover, little is known about the role of regulatory RNAs, such as microRNAs (miRNAs), in the pathogenesis of VU. We found that both miR-34a and miR-34c were upregulated in the wound-edge epidermal keratinocytes of VU compared with normal wounds or the skin. In keratinocytes, miR-34a and miR-34c promoted inflammatory chemokine and cytokine production.

Frequent and persistent PLCG1 mutations in Sézary cells directly enhance PLCγ1 activity and stimulate NFκB, AP-1 and NFAT signaling. Short title: Gain-of-function PLCG1 mutations in Sézary Syndrome

Wed, 2019-07-31 00:00
Phospholipase C Gamma 1 (PLCG1) is frequently mutated in primary cutaneous T-cell lymphoma (CTCL). This study functionally interrogated 9 PLCG1 mutations (p.R48W, p.S312L, p.D342N, p.S345F, p.S520F, p.R1158H, p.E1163K, p.D1165H and the in-frame indel p.VYEEDM1161V) identified in Sézary Syndrome, the leukemic variant of CTCL. The mutations were demonstrated in diagnostic samples and persisted in multiple tumor compartments over time, except in patients who achieved a complete clinical remission. In basal conditions, the majority of the mutations confer PLCγ1 gain-of-function activity through increased inositol phosphate production and downstream activation of NFκB, AP-1 and NFAT transcriptional activity.

Exome-wide rare loss-of-function variant enrichment study of 21,347 Han Chinese individuals identifies four susceptibility genes for psoriasis

Wed, 2019-07-31 00:00
Most psoriasis-related genes or loci identified by genome-wide association studies (GWASs) represent common clusters and are located in noncoding regions of the human genome, providing only limited evidence for the roles of rare coding variants in psoriasis. Two exome-wide case-control genotyping data sets (11,245 cases and 11,177 controls) were obtained from our previous study. Quality controls were established for each data set, and the markers remaining in each set were annotated using ANNOVAR.

First glimpse of epigenetic effects on pemphigus foliaceus

Wed, 2019-07-31 00:00
Pemphigus foliaceus (PF) is an autoimmune disease, sporadic across the globe, but endemic in Brazil. A significant proportion of PF autoantibodies target desmosomal glycoproteins (principally desmoglein-1), associated with painful blisters in the granular skin layer (Spindler et al. 2007). Epigenetic mechanisms have been implicated in autoimmune skin diseases. Among them, dysregulated DNA and histone methylation contribute to systemic lupus erythematosus (SLE) (Hung et al. 2018), psoriasis (Manczinger et al.

The phytocannabinoid (-)-cannabidiol (CBD) operates as a complex, differential modulator of human hair growth: Anti-inflammatory submicromolar versus hair growth inhibitory micromolar effects

Mon, 2019-07-29 00:00
Most cases of excessive hair loss and unwanted hair growth (effluvium, alopecia, hirsutism, hypertrichosis) result in part from major disturbances in the cyclic transformation of hair follicles (HFs), namely in their switch from active growth and pigmented hair shaft production (anagen) to apoptosis-driven HF involution (catagen) (Oh et al. 2016; Paus and Cotsarelis 1999). It is now clear that this switch also underlies profound neuroendocrine controls that still await systematic therapeutic targeting (Paus et al.

Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production

Fri, 2019-07-26 00:00
The skin permeability barrier is indispensable for maintaining water inside the body and preventing the invasion of pathogens and allergens; abnormalities lead to skin disorders such as atopic dermatitis and ichthyosis. Acylceramide is an essential lipid for skin barrier formation, and CYP4F22 is a fatty acid ω-hydroxylase involved in its synthesis. Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis, although the symptoms vary among mutation sites and types. Here, we generated knockout mice deficient in Cyp4f39, the mouse ortholog of human CYP4F22, to investigate the effects of completely abrogating the function of the fatty acid ω-hydroxylase involved in acylceramide production on skin barrier formation.

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