Skin Color Research Articles

Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.

Filippi syndrome is a rare genetic disorder characterized by growth and neurodevelopmental delays, dysmorphism, and selective limb abnormalities. Although the syndrome was described approximately four decades ago, only a few families with molecularly confirmed diagnoses have been reported. In this article, we present three new patients of Filippi syndrome with unusual clinical and genetic aspects. These patients exhibited novel clinical features that have not previously been associated with Filippi syndrome, including renal hypoplasia/aplasia, renal cysts, renal cortical thinning, hypomelanotic, and hypermelanotic macules. All three patients had homozygous frameshift variants of the CKAP2L gene, specifically NM_152515.3: c.554_555del, c.981_982del, and c.1463_1467del, with the second being a novel variant. Given the limited number of reported Filippi syndrome patients to date and the ongoing discovery of new clinical aspects of the disease, exploring its potential connection with kidney and skin pigmentation abnormalities could be valuable for future research.

R2R3-MYB transcription factor CsMYB60 controls mature fruit skin color by regulating flavonoid accumulation in cucumber.

Skin color is an important trait that determines the cosmetic appearance and quality of fruits. In cucumber, the skin color ranges from white to brown in mature fruits. However, the genetic basis for this important trait remains unclear. We conducted a genome-wide association study of natural cucumber populations, along with map-based cloning techniques, on an F2 population resulting from a cross between Pepino (with yellow-brown fruit skin) and Zaoer-N (with creamy fruit skin). We identified CsMYB60 as a candidate gene responsible for skin coloration in mature cucumber fruits. In cucumber accessions with white to pale yellow skin color, a premature stop mutation (C to T) was found in the second exon region of CsMYB60, whereas light yellow cucumber accessions exhibited splicing premature termination caused by an intronic mutator-like element insertion in CsMYB60. Transgenic CsMYB60c cucumber plants displayed a yellow-brown skin color by promoting accumulation of flavonoids, especially hyperoside, a yellow-colored flavonol. CsMYB60c encodes a nuclear protein that primarily acts as a transcriptional activator through its C-terminal activation motif. RNA sequencing and DNA affinity purification sequencing assays revealed that CsMYB60c promotes skin coloration by directly binding to the YYTACCTAMYT motif in the promoter regions of flavonoid biosynthetic genes, including CsF3'H, which encodes flavonoid 3'-hydroxylase. The findings of our study not only offer insight into the function of CsMYB60 as dominantly controlling fruit coloration, but also highlight that intronic DNA mutations can have a similar phenotypic impact as exonic mutations, which may be valuable in future cucumber breeding programs.

Poetic inquiry into the role of mentorship for marginalized migrants

ABSTRACT This paper explores the role of mentorship on inclusivity and belonging among marginalized migrants, through the experiences of a Pakistani Muslim woman academic in Canada. Using storytelling and poetic inquiry, it examines identity shifts and cultural adaptation, calling for empathetic and inclusive mentorship. Tangled thoughts freefall in poetry, An outsider amongst new faces, Rebuilding my life on my own, I wish to be home, Empty spaces beneath my colored skin, Wearing a migrant suit upon Muslim roots, Like a dandelion in the breeze, The day I heard my own heart break, As its pieces scattered on the concrete, Then my head dropped on a mentors’ shoulder, Where I was heard and seen. Another mentor pulled me up the wobbly ladder, Another introduced me to inclusivity, See the sunlight dance thru the cracks? As I outstretch my safe space, And now my heart overflows with gratitude, For my community of mentors.

Effect of mushroom powder (Pleurotus ostreatus and Pleurotus djamor) on skin coloration and inflammation in siamese fighting fish (Betta splendens)

ABSTRACT Skin coloration and immune status are the most valued characteristics when raising Betta splendens. We evaluated the effects of enriching a cladoceran diet with Pleurotus ostreatus or P. djamor mushroom powder on coloration, response to induced injury, and growth of B. splendens. Seventeen fish per treatment (weight 0.60 ± 0.2 g) were assigned to three diets: Cladoceran powder (CP), CP enriched with P. ostreatus mushroom powder (CP + PO), and CP enriched with P. djamor mushroom powder (CP + PD). We evaluated color intensity, responses to induced injury, growth and condition factor (K) with each diet. We found that skin coloration and response to induced injury were improved with mushroom-supplemented diets. Body length and weight were higher with CP, while K was higher with CP and CP + PD diets (K = 3.29 and 2.66, respectively) than with CP + PO (K = 1.82). Our results contribute insights into the benefits of mushroom-supplemented diets for enhancing aquaculture.

Clpf encodes pentatricopeptide repeat protein (PPR5) and regulates pink flesh color in watermelon (Citrullus lanatus L.).

The gene controlling pink flesh in watermelon was finely mapped to a 55.26-kb region on chromosome 6. The prime candidate gene, Cla97C06G122120 (ClPPR5), was identified through forward genetics. Carotenoids offer numerous health benefits; while, they cannot be synthesized by the human body. Watermelon stands out as one of the richest sources of carotenoids. In this study, genetic generations derived from parental lines W15-059 (red flesh) and JQ13-3 (pink flesh) revealed the presence of the recessive gene Clpf responsible for the pink flesh (pf) trait in watermelon. Comparative analysis of pigment components and microstructure indicated that the disparity in flesh color between the parental lines primarily stemmed from variations in lycopene content, as well as differences in chromoplast number and size. Subsequent bulk segregant analysis (BSA-seq) and genetic mapping successfully narrowed down the Clpf locus to a 55.26-kb region on chromosome 6, harboring two candidate genes. Through sequence comparison and gene expression analysis, Cla97C06G122120 (annotated as a pentatricopeptide repeat, PPR) was predicted as the prime candidate gene related to pink flesh trait. To further investigate the role of the PPR gene, its homologous gene in tomato was silenced using a virus-induced system. The resulting silenced fruit lines displayed diminished carotenoid accumulation compared with the wild-type, indicating the potential regulatory function of the PPR gene in pigment accumulation. This study significantly contributes to our understanding of the forward genetics underlying watermelon flesh traits, particularly in relation to carotenoid accumulation. The findings lay essential groundwork for elucidating mechanisms governing pigment synthesis and deposition in watermelon flesh, thereby providing valuable insights for future breeding strategies aimed at enhancing fruit quality and nutritional value.

Understanding Mechanisms and Key Factors Influencing Melanogenesis for the Management of Melasma: An Updated Review.

Melanocytes are highly specialized dendritic cells that deliver melanin to keratinocytes in melanosomes, which are subcellular organelles where melanin is produced and stored. Mammal's skin, hair, and eyes all contain the complex pigment melanin, which gives them color and ultraviolet protection. Melanins have the potential to be free radical sinks and are strong cation chelators. Amino acid tyrosine and its metabolite, dopa, are the precursors to complex metabolic processes that end with melanin production. Melanocytes generate different types and amounts of melanin, which is defined genetically and is impacted by several extrinsic and intrinsic factors such as hormone fluctuations, inflammation, age, and ultraviolet radiation exposure, leading to the stimulation of numerous melanogenesis pathways. Melasma, a common skin pigmentation condition, is associated with the overproduction of melanin and is characterized by brown to gray-brown and black spots that mostly affect the face. The present review addresses the regulatory mechanisms and signaling pathways involved in skin pigmentation with an emphasis on the altered melanogenesis that causes melasma and hyperpigmentation. The current study also illustrates the available treatment options with cellular and molecular mechanisms for the management of melasma. Understanding the mechanism of the pigmentation process may help researchers develop new therapeutic strategies and novel drugs for the management of melasma.

Exploring the Influence of Cold Plasma on Epidermal Melanogenesis In Situ and In Vitro

Epidermal melanin synthesis determines an individual’s skin color. In humans, melanin is formed by melanocytes within the epidermis. The process of melanin synthesis strongly depends on a range of cellular factors, including the fine-tuned interplay with reactive oxygen species (ROS). In this context, a role of cold atmospheric plasma (CAP) on melanin synthesis was proposed due to its tunable ROS generation. Herein, the argon-driven plasma jet kINPen® MED was employed, and its impact on melanin synthesis was evaluated by comparison with known stimulants such as the phosphodiesterase inhibitor IBMX and UV radiation. Different available model systems were employed, and the melanin content of both cultured human melanocytes (in vitro) and full-thickness human skin biopsies (in situ) were analyzed. A histochemical method detected melanin in skin tissue. Cellular melanin was measured by NIR autofluorescence using flow cytometry, and a highly sensitive HPLC-MS method was applied, which enabled the differentiation of eu- and pheomelanin by their degradation products. The melanin content in full-thickness human skin biopsies increased after repeated CAP exposure, while there were only minor effects in cultured melanocytes compared to UV radiation and IBMX treatment. Based on these findings, CAP does not appear to be a useful option for treating skin pigmentation disorders. On the other hand, the risk of hyperpigmentation as an adverse effect of CAP application for wound healing or other dermatological diseases seems to be neglectable.

An evaluation of the effects of localised skin cooling on microvascular, inflammatory, structural, and perceptual responses to sustained mechanical loading of the sacrum: A study protocol.

This study protocol aims to investigate how localised cooling influences the skin's microvascular, inflammatory, structural, and perceptual tolerance to sustained mechanical loading at the sacrum, evaluating factors such as morphology, physiology, and perceptual responses. The protocol will be tested on individuals of different age, sex, skin tone and clinical status, using a repeated-measure design with three participants cohorts: i) young healthy (n = 35); ii) older healthy (n = 35); iii) spinal cord injured (SCI, n = 35). Participants will complete three testing sessions during which their sacrum will be mechanically loaded (60 mmHg; 45 min) and unloaded (20 min) with a custom-built thermal probe, causing pressure-induced ischemia and post-occlusive reactive hyperaemia. Testing sessions will differ by the probe's temperature, which will be set to either 38°C (no cooling), 24°C (mild cooling), or 16°C (strong cooling). We will measure skin blood flow (via Laser Doppler Flowmetry; 40 Hz); pro- and anti-inflammatory biomarkers in skin sebum (Sebutape); structural skin properties (Optical Coherence Tomography); and ratings of thermal sensation, comfort, and acceptance (Likert Scales); throughout the loading and unloading phases. Changes in post-occlusive reactive hyperaemia will be considered as the primary outcome and data will be analysed for the independent and interactive effects of stimuli's temperature and of participant group on within- and between-subject mean differences (and 95% Confidence Intervals) in peak hyperaemia, by means of a 2-way mixed model ANOVA (or Friedman). Regression models will also be developed to assess the relationship between absolute cooling temperatures and peak hyperaemia. Secondary outcomes will be within- and between-subject mean changes in biomarkers' expression, skin structural and perceptual responses. This analysis will help identifying physiological and perceptual thresholds for the protective effects of cooling from mechanically induced damage underlying the development of pressure ulcers in individuals varying in age and clinical status.

[Analysis of ADAR gene variants in a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria in conjunct with developmental delay].

To explore the clinical characteristics and genetic etiology for a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria (DSH) in conjunct with developmental delay. A child who had presented at the First Affiliated Hospital of Zhengzhou University on May 28 2021 for abnormal skin pigmentation of the extremities and growth retardation for over 2 years was selected as the study subject. Clinical data of the child and his pedigree (11 individuals from three generations) was collected. The child was subjected to whole exome sequencing, and candidate variant was verified by Sanger sequencing. The child, a two-year-and-seven-month-old male, had hyper- and hypopigmentation on his hands, feet and face, in addition with delayed development. All members of his pedigree had typical presentation of DSH. A heterozygous c.2657G>A variant was found in exon 8 of the ADAR gene in the child, his mother, and elder sister. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted as likely pathogenic (PM1+PM2_Supporting+PP1+PP3). The c.2657G>A variant of the ADAR gene probably underlay the DSH in this pedigree.

Mechanisms governing melon fruit skin pigmentation: Insights from transcriptome sequencing and whole-genome bisulfite sequencing analyses

Fruit skin color is a critical agronomic trait determining fruit quality, but the mechanisms governing melon (Cucumis melo L.) fruit skin pigmentation remain inadequately characterized. We performed cytological, transcriptomic, and whole-genome bisulfite sequencing (WGBS) comparative analyses on two near-isogenic lines (NILs) at different developmental stages: the green-skinned (GS) and white-skinned (WS) melon. The enriched functions among the 536 identified differentially expressed genes (DEGs) were related to chloroplast development, pigment metabolism, and photosynthetic pathway. The genes in these pathways were downregulated in the WS line, potentially contributing to the decreased chlorophyll content and abnormal chloroplast development in WS. WGBS analysis revealed that the levels of genomic DNA methylation in WS progressively exceeded those in GS as the fruits developed. The integrated analysis of the transcriptome and methylome identified DMR-associated DEGs (CHLI, CRD1, PORA, and HCAR) involved in chlorophyll metabolism. Notably, PORA exhibited downregulated expression and was hypermethylated in WS fruits during two developmental stages, showing a coordinated expression with the chlorophyll contents in developing WS and GS fruits. Furthermore, we identified a transcription factor gene, MELO3C011576, that was closely associated with the expression of PORA and chlorophyll levels across three developmental stages in both NILs. We speculate that PORA positively regulates chlorophyll biosynthesis in the two NILs, with its expression may be co-controlled by DNA methylation and transcription factors.

OIPFST: AI-based Fitzpatrick skin tone labelling utilizing skin lesions

OIPFST: AI-based Fitzpatrick skin tone labelling utilizing skin lesions

Analytic validation of convolutional neural network-based classification of pigmented skin lesions (PSLs) using unseen PSL hyperspectral data for clinical applications

Analytic validation of convolutional neural network-based classification of pigmented skin lesions (PSLs) using unseen PSL hyperspectral data for clinical applications

An Unknown 18th-Century Flemish Dyers Manuscript from Antwerp (1778–1802)

This paper presents a historical analysis of a rare dyer’s manuscript, preserved within the Museum of Industry in Ghent, Belgium. The manuscript, originating from a dyer in late 18th-century Antwerp, includes an extensive collection of recipes. The study will enable researchers to better grasp the practices of traditional dyeing techniques and materials in the region during that time. The manuscript focuses primarily on the dyeing of woolen fabrics. Approximately 90 of the 132 recipes utilize red dyes. Recipes for dying orange, brown, black, blue, and green colors are also described. The document mentions the use of madder, brazilwood, redwood, and cochineal. To create a variety of red shades, the dyer describes how fabrics were treated with different mordanting compounds, with alum and tin as the main ingredients, and how the dyeing solutions were prepared. The resulting colors include ‘madder red’, ‘formal red’, ‘crimson’, ‘scarlet’, ‘Turkish red’, ‘fire color’ and ‘flesh color’. In addition to the dyeing recipes, the manuscript contains various accounting documents and correspondences between the dyer, customers, and suppliers. Lastly, over 100 original, colored samples are attached to the described recipes. In this paper, the artifact’s contents will be disclosed, comprising recipes with attached samples and correspondence. Findings resulting from archive research will be included, contextualizing and placing the dyer in their urban and social context. The paper concludes by discussing its potential limitations and provides avenues for possible future research.

Artificial Intelligence in Dermatology: A Systematic Review of Its Applications in Melanoma and Keratinocyte Carcinoma Diagnosis.

Limited access to dermatologic care may pose an obstacle to the early detection and intervention of cutaneous malignancies. The role of artificial intelligence (AI) in skin cancer diagnosis may alleviate potential care gaps. The aim of this systematic review was to offer an in-depth exploration of published AI algorithms trained on dermoscopic and macroscopic clinical images for the diagnosis of melanoma, basal cell carcinoma, and cutaneous squamous cell carcinoma (cSCC). Adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines, a systematic review was conducted on peer-reviewed articles published between January 1, 2000, and January 26, 2023. Among the 232 studies in this review, the overall accuracy, sensitivity, and specificity of AI for tumor detection averaged 90%, 87%, and 91%, respectively. Model performance improved with time. Despite seemingly impressive performance, the paucity of external validation and limited representation of cSCC and skin of color in the data sets limits the generalizability of the current models. In addition, dermatologists coauthored only 12.9% of all studies included in the review. Moving forward, it is imperative to prioritize robustness in data reporting, inclusivity in data collection, and interdisciplinary collaboration to ensure the development of equitable and effective AI tools.

Efficacy of antimalarials in oral lichen planus: A systematic review.

To evaluate whether hydroxychloroquine (HCQ) or chloroquine (CQ) are effective for the treatment of oral lichen planus (OLP). A literature search was conducted in four databases. Clinical studies investigating the effect of HCQ/CQ in patients with OLP were included. Eleven studies were included. Four were RCTs and seven quasi-experimental studies. The studies included 390 patients diagnosed with OLP, of which 326 and 7 received HCQ and CQ, respectively. 46 patients received topical dexamethasone, 5 placebo and 6 griseofulvin as controls. Five studies assessed pain, and all of them obtained pain reduction with the use of HCQ. Six studies reported objective clinical improvement of OLP with the use of HCQ. Five studies that used a subjective scale obtained that 24%-100% of the patients achieved a complete/almost complete improvement of OLP lesions and its symptomatology. The most frequent side effects were vision problems, gastric discomfort, rash, nauseas, headaches, skin pigmentation, and elevated kidney function. 17 patients had to withdraw from the studies. Current evidence is scarce to confirm HCQ as a therapeutic option for OLP. More RCTs are needed to compare its efficacy with topical corticosteroids and to evaluate whether HCQ reduces relapses of OLP.

Photothermal Radiometry Data Analysis by Using Machine Learning

Photothermal techniques are infrared remote sensing techniques that have been used for biomedical applications, as well as industrial non-destructive testing (NDT). Machine learning is a branch of artificial intelligence, which includes a set of algorithms for learning from past data and analyzing new data, without being explicitly programmed to do so. In this paper, we first review the latest development of machine learning and its applications in photothermal techniques. Next, we present our latest work on machine learning for data analysis in opto-thermal transient emission radiometry (OTTER), which is a type of photothermal technique that has been extensively used in skin hydration, skin hydration depth profiles, skin pigments, as well as topically applied substances and skin penetration measurements. We have investigated different algorithms, such as random forest regression, gradient boosting regression, support vector machine (SVM) regression, and partial least squares regression, as well as deep learning neural network regression. We first introduce the theoretical background, then illustrate its applications with experimental results.

Optimization of Process Parameters for Microwave Drying of Yellow- and Purple-Fleshed Potatoes

AbstractThe main objective of the present work was to study the optimization of microwave drying of potatoes that have different flesh colors. The effects of independent variables of microwave power (300, 450, 600 W), slice thickness (2–4, 6 mm), and steam blanching time (2, 5, 8 min) on the color, total phenolic content (TPC), antioxidant activity, starch ratio, and total monomeric anthocyanin content (TMA) were investigated by using the Response Surface Methodology (RSM). Before drying, potato slices that had different thicknesses were blanched in steam at 90 °C for indicated times. Optimization was applied to improve bioactive compounds, starch ratio, and color. The optimum drying parameters were determined as 300 W, 6 mm, and 8 min for purple-fleshed potatoes, and 450 W, 6 mm, and 2 min for yellow-fleshed potatoes. This study is beneficial to the development of the processing of potatoes in the food industry and provides more insights into the application of microwave drying technology.

Polyglutamate: Unleashing the Versatility of a Biopolymer for Cosmetic Industry Applications

Polyglutamic acid (PGA), a biopolymer comprising repeating units of glutamic acid, has garnered significant attention owing to its versatile applications. In recent years, microbial production processes have emerged as promising methods for the large-scale synthesis of PGA, offering advantages such as sustainability, efficiency, and tailored molecular properties. Beyond its industrial applications, PGA exhibits unique properties that render it an attractive candidate for use in the cosmetic industry. The biocompatibility, water solubility, and film-forming characteristics of PGA make it an ideal ingredient for cosmetic formulations. This article explores the extensive potential cosmetic applications of PGA, highlighting its multifaceted role in skincare, haircare, and various beauty products. From moisturizing formulations to depigmentating agents and sunscreen products, PGA offers a wide array of benefits. Its ability to deeply hydrate the skin and hair makes it an ideal ingredient for moisturizers, conditioners, and hydrating masks. Moreover, PGA’s depigmentating properties contribute to the reduction in hyperpigmentation and uneven skin tone, enhancing the overall complexion. As the demand for sustainable and bio-derived cosmetic ingredients escalates, comprehending the microbial production and cosmetic benefits of PGA becomes crucial for driving innovation in the cosmetic sector.

Skin colour: A window into human phenotypic evolution and environmental adaptation.

As modern humans ventured out of Africa and dispersed around the world, they faced novel environmental challenges that led to geographic adaptations including skin colour. Over the long history of human evolution, skin colour has changed dramatically, showing tremendous diversity across different geographical regions, for example, the majority of individuals from the expansive lands of Africa have darker skin, whereas the majority of people from Eurasia exhibit lighter skin. What adaptations did lighter skin confer upon modern humans as they migrated from Africa to Eurasia? What genetic mechanisms underlie the diversity of skin colour observed in different populations? In recent years, scientists have gradually gained a deeper understanding of the interactions between pigmentation gene and skin colour through population-based genomic studies of different groups around the world, particularly in East Asia and Africa. In this review, we summarize our current understanding of 26 skin colour-related pigmentation genes and 48 SNPs that influence skin colour. Important pigmentation genes across three major populations are described in detail: MFSD12, SLC24A5, PDPK1 and DDB1/CYB561A3/TMEM138 influence skin colour in African populations; OCA2, KITLG, SLC24A2, GNPAT and PAH are key to the evolution of skin pigmentation in East Asian populations; and SLC24A5, SLC45A2, TYR, TYRP1, ASIP, MC1R and IRF4 significantly contribute to the lightening of skin colour in European populations. We summarized recent findings in genomic studies of skin colour in populations that implicate diverse geographic environments, local adaptation among populations, gene flow and multi-gene interactions as factors influencing skin colour diversity.

Comprehensive Evaluation of the Regulation of Skin Pigment Deposition by Active Ingredients Based on Whitening Products

This study was mainly about different whitening products. Analysed their different product ingredients and the essentials of daily skincare. By looking at the results of the study show that there are differences in how individuals respond to whitening products due to differences in the combination of ingredients. Considered both internal and external will having different influences. Therefore, to determine the products to realise the optimal result, we should also consider our individual needs and preferences. Only by fully understanding and making informed choices based on our needs and preferences can we ensure the best results in our skincare routine.