JEADV clinical practice最新文献

Poor adherence to therapies in dermatology remains a prevalent issue associated with treatment failure, poor clinical outcomes, and reduced quality of life. The aim of this review is to summarize the current literature on medical adherence specifically in dermatology, including ways to measure treatment adherence, factors contributing to nonadherence, interventions to increase adherence, and the impact of adherence on patient outcomes. We conducted a MEDLINE search between the years 2006 and 2023 using the following term: [adherence AND dermatology AND treatment]. The search was limited to English article types: clinical study, clinical trial, observational study, and randomized controlled trials in human subjects. The literature search yielded 323 articles. 52 of these articles met the inclusion criteria and were reviewed to define, measure, understand, and suggest means to increase adherence in dermatology. Additional articles were added from in text citations. Adherence can be measured using subjective and objective methods. Patient-, treatment-, and disease-centered factors are important to consider when prescribing medications and implementing interventions to increase adherence. Reducing treatment adverse reactions, simplifying treatment regimens, and eHealth, education, communication, and psychological interventions are associated with improved adherence and disease outcomes. Understanding and enhancing adherence is crucial because of its impact on costs, treatment efficacy, and healthcare outcomes.

POT1 variants have been identified in familial melanoma (FM) as well as a number of other germline and somatic malignancies. The functional validation of variants identified from the screening of patients with melanoma gene susceptibility panels is key to understanding the clinical significance of identified variants. Here we report a novel, likely pathogenic POT1 missense variant (p.G95V) in FM and investigate its functional impact. We demonstrate loss of function owing to the inability of the mutant POT1 protein to bind telomeric DNA compared to its wild-type counterpart. This study provides important functional validation of a novel POT1 variant in FM.

Transient acantholytic dermatosis (TAD) is a relatively common skin disease that typically affects older individuals, which shows clinical and histologic similarities to autosomal dominant Darier disease. TAD was recently shown to be caused by somatic ATP2A2 damaging variants. In this study, we performed Sanger sequencing and droplet digital PCR (ddPCR) in a Japanese elderly male with TAD to identify ATP2A2 somatic mosaicism occurring during embryogenesis for the first time and mutant allelic fraction (MAF). Sanger sequencing revealed a known heterozygous substitution c.1645C>T, p.Arg549* in ATP2A2 from blood and the affected skin containing the epidermis and dermis, whereas the signals of the mutated allele were weaker, suggesting that discrepancy of signal intensities demonstrates the presence of somatic mosaicism. By ddPCR, the normal and mutant allele were identified in genomic DNAs and the MAFs were 20.1% (affected skin) and 14.7% (blood), respectively. In the present case, somatic mosaicisms observed in ectodermal (epidermis) and mesodermal (dermis and blood) origin DNA can be explained by a mutational event during the early-stage differentiation of embryonic epiblast in embryogenesis, and mutant embryonic cells somewhat preferentially differentiate to form the epidermis, rather than the dermis and blood. Disrupted intracellular Ca²⁺ homoeostasis through clinical deterioration together with ATP2A2 somatic mosaicism in this patient might result in transient skin eruptions.

Skin of colour, defined as Fitzpatrick skin types IV–VI, is especially susceptible to hyperpigmentation concerns such as melasma and postinflammatory hyperpigmentation (PIH). Treating hyperpigmentation in skin of colour is challenging due to increased risk of PIH, which can be induced by the treatments. Isobutylamido-Thiazolyl-Resorcinol (ITR), a tyrosinase inhibitor, has previously been identified as an effective and safe solution for hyperpigmentation, inhibiting melanin production without common side effects. This review evaluates available evidence on ITR's efficacy and safety for the management of hyperpigmentation in skin types IV–VI. Three publications reporting four studies were reviewed. Two randomised controlled trials assessed the efficacy and tolerability of ITR for the management of melasma in patients with skin of colour, whereas one randomised clinical trial and one observational real-world study explored therapeutic benefits for patients with acne-related PIH. A total of 234 participants completed the four reviewed studies, of which 232 were skin of colour. In a randomised vehicle-controlled trial, ITR significantly improved Melasma Area and Severity Index scores and quality of life over 24 weeks of application compared to baseline and vehicle. A comparative clinical trial showed ITR, alone or with hyaluronic acid, effectively reduced melasma. A randomised vehicle-controlled study in patients with acne-related PIH showed ITR significantly reduced PIH visibility as compared to baseline and vehicle. An observational real-world study confirmed effective PIH reduction by ITR in a real-life setting. All studies showed good tolerability of the examined ITR-containing formulations. The results collectively support ITR as a safe and effective cosmetic solution in skin of colour. ITR emerges as a reliable hyperpigmentation management option for this patients groups, backed by robust methodologies. Future research should include more patients with Fitzpatrick skin type VI and explore potential benefits of combining ITR and laser treatments in skin of colour to reduce PIH risk.