The recessive form of dystrophic epidermolysis bullosa (RDEB) is a debilitating disease caused by impairments in the junctions of the dermis and the basement membrane of the epidermis. Mutations in the COL7A1 gene induce multiple abnormalities, including chronic inflammation and profibrotic changes in the skin. However, the correlations between the specific mutations in COL7A1 and their phenotypic output remain largely unexplored. The mutations in the COL7A1 gene, described here, were found in the DEB register. Among them, two homozygous mutations and two cases of compound heterozygous mutations were identified. We created the panel of primary patient-specific RDEB fibroblast lines (FEB) and compared it with control fibroblasts from healthy donors (FHC). The set of morphological features and the contraction capacity of the cells distinguished FEB from FHC. We also report the relationships between the mutations and several phenotypic traits of the FEB. Based on the analysis of the available RNA-seq data of RDEB fibroblasts, we performed an RT-qPCR gene expression analysis of our cell lines, confirming the differential status of multiple genes while uncovering the new ones. We anticipate that our panels of cell lines will be useful not only for studying RDEB signatures but also for investigating the overall mechanisms involved in disease progression.
Background The COVID‐19 pandemic has raised questions regarding the management of chronic skin diseases, especially in patients on systemic treatments. Data concerning the use of biologics in adults with psoriasis are reassuring, but data specific to children are missing. Moreover, COVID‐19 could impact the course of psoriasis in children. Objectives The aim of this study was therefore to assess the impact of COVID‐19 on the psoriasis of children, and the severity of the infection in relation to systemic treatments. Methods We set up an international registry of paediatric psoriasis patients. Children were included if they were under 18 years of age, had a history of psoriasis, or developed it within 1 month of COVID‐19 and had COVID‐19 with or without symptoms. Results One hundred and twenty episodes of COVID‐19 in 117 children (mean age: 12.4 years) were reported. The main clinical form of psoriasis was plaque type (69.4%). Most children were without systemic treatment (54.2%); 33 (28.3%) were on biologic therapies, and 24 (20%) on non‐biologic systemic drugs. COVID‐19 was confirmed in 106 children (88.3%) and 3 children had two COVID‐19 infections each. COVID‐19 was symptomatic for 75 children (62.5%) with a mean duration of 6.5 days, significantly longer for children on non‐biologic systemic treatments ( P = 0.02) and without systemic treatment ( P = 0.006) when compared with children on biologics. The six children who required hospitalization were more frequently under non‐biologic systemic treatment when compared with the other children ( P = 0.01), and particularly under methotrexate ( P = 0.03). After COVID‐19, the psoriasis worsened in 17 cases (15.2%). Nine children (8%) developed a psoriasis in the month following COVID‐19, mainly a guttate form ( P = 0.01). Discussion Biologics appear to be safe with no increased risk of severe form of COVID‐19 in children with psoriasis. COVID‐19 was responsible for the development of psoriasis or the worsening of a known psoriasis for some children.
Psoriasis is chronic inflammatory skin disease that can develop at any age. Approximately 20–30% of all patients report about first rashes before the age of 18. Psoriatic arthritis is one of psoriasis comorbid conditions. Its signs can range from mild to extremely severe destructive forms. Arthralgia, joint stiffness and swelling are the most common symptoms. Early psoriatic arthritis treatment onset allows to control joint damage which usually occurs during the first 2 years of the disease. The moderate and severe course of psoriasis and psoriatic arthritis may require systemic therapy, however, there is not much data on the efficacy and toxicity of systemic agents in the pediatric practice. This article provides the review of studies on etanercept efficacy and safety in children with psoriatic arthritis.
BackgroundFragile skin is a poorly understood skin condition, particularly in the general adult population. There are currently limited epidemiological data on the prevalence of fragile skin in adults. The objectives of this study were to assess the prevalence of perceived fragile skin across different skin types in representative samples of the general adult populations in Mexico and Russia, and to identify skin characteristics associated with perceived fragile skin.MethodsTwo identical cross-sectional surveys, using a short online self-administered questionnaire, were conducted on samples of recruited individuals that were representative of the general Mexican and Russian populations. Participants responded to questions about fragile skin, with the main question being “In your opinion, do you have fragile skin (ie, skin less resistant and reacting quickly to external aggressions)?”. The survey also covered questions relating to skin appearance, skin symptoms, skin disease, dermatological procedures, and living environment and climate.ResultsOverall, 1,210 individuals in Mexico (N=606) and Russia (N=604) completed the online survey. Fragile skin was perceived in 50.0% and 45.9% of participants in Mexico and Russia, respectively. The principal skin appearance characteristics reported by individuals with perceived fragile skin were thin, easily wrinkled, and transparent; the main skin symptoms were dryness, redness, and/or itching (≥50% of individuals in Mexico), and dryness, tightness, and/or redness (>60% of individuals in Russia). Individuals with perceived fragile skin had experienced skin disease and/or undergone a dermatological procedure in the past 12 months, and they reported being exposed to stress (>80% of individuals in both surveys).ConclusionA substantial proportion of the general adult population of Mexico and Russia perceived that they had fragile skin, regardless of their skin type; fragile skin was perceived more frequently in women. These findings should assist dermatologists to extend their understanding and management of individuals with perceived fragile skin.
Reduced skin barrier properties in patients with atopic dermatitis (AtD) are largely caused by microbiome changes and extensive Staphylococcus aureus colonisation of the skin. In this regard, the integument of patients with AtD requires constant care and the use of various emollients. The inclusion of lysates of non-pathogenic microorganisms and prebiotics in the composition of emollients ensures the normalisation of the microbiome composition and the immunological barrier of the skin. The article presents the results of our own observations on the application of two cosmetic scin-care products for damaged skin with vitamin F in children with AtD complicated by a secondary infection, while the composition of one of the products is additionally enriched with ceramides and prebiotics. The safety and high efficacy of both products have been shown, however, the presence of ceramides and prebiotics in the emollient composition makes it possible to achieve a marked decrease in the degree of S. aureus colonisation of the skin.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.