Skin Abnormalities Research Articles

Acute Onset of Impaired Consciousness.

Mortality in patients with acute onset of impaired consciousness is high: as many as 10% do not survive. The spectrum of differential diagnoses is wide, and more than one underlying condition is found in one-third of all cases. In this article, we describe a structured approach to patients with acute onset of impaired consciousness in the emergency department. This review is based on pertinent articles retrieved by a selective search of PubMed and on the AWMF guidelines on the most common causes of impairment of consciousness. Impairments of consciousness are classified as quantitative (reduced wakefulness) or qualitative (abnormal content of consciousness). Of all such cases, 45-50% have a primary neurological cause, and approximately 20% are of metabolic or infectious origin. Some cases are due to intoxications, cardiovas - cular disorders, or psychiatric disorders. Important warning signs ("red flags") in acute onset of impaired consciousness are a hyperacute onset, pupillomotor disturbances, focal neurologic deficits, meningismus, headache, tachycardia and tachypnea (with or without fever), muscle contractions, and skin abnormalities. Patients with severely impaired consciousness should be initially treated in the shock room according to the ABCDE scheme. Acute onset of impaired consciousness is a medical emergency. Red flags must be rapidly recognized and treatment initiated immediately. Patients with severely impaired consciousness of new onset and uncertain cause, status epilepticus, lack of protective reflexes, or a new, acute neuro - logic deficit should be admitted via the resuscitation room.

Ultraviolet irradiation benefits left ventricular hypertrophy and mitochondrial morphology of cardiomyocytes in hypertensive rats.

Insufficient exposure to sunlight increases the risk of cardiovascular diseases. Hypertensive left ventricular (LV) hypertrophy exacerbates the risks of myocardial ischemia, ventricular arrhythmias, sudden cardiac death, and heart failure. This study aimed to determine the effects of ultraviolet (UV) irradiation on LV hypertrophy and mitochondrial morphology. Eighteen 7-week-old Dahl salt-sensitive (Dahl S) rats were categorized into three groups (n = 6 each) and fed sodium chloride (NaCl) diets, as follows: UV-irradiated [UVB+A (+), 8% NaCl], non-UV-irradiated [UV (-), 8% NaCl], and control [UV (-), 0.3% NaCl]. UV irradiation was administered at a low intensity of 100 mJ/cm2 for 6 days per week. Echocardiography and mitochondrial analyses were performed to evaluate LV hypertrophy and cardiomyocytes, and skin tissues were stained with hematoxylin and eosin to assess the pathological abnormalities at 12 weeks of age. LV mass was significantly reduced in the UVB+A (+) and control groups compared to that in the UV (-) group. Mitochondrial structural abnormalities in cardiomyocytes were observed only in the UV (-) group, but not in the UVB+A (+) or control group. Pathological skin abnormalities were not observed in any of the three groups. These findings suggest the potential benefits of UV irradiation in hypertensive models.

Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.

The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing methods remains crucial to provide an accurate diagnosis. In this study, we reported a Tunisian patient manifesting hypotonia and global developmental delay with visual and skin abnormalities. Exome sequencing was conducted followed by segregation analysis and, subsequently additional investigations. In silico analysis of non-synonymous variants (nsSNPs) described in COG5 in conserved positions was made. Results revealed a homozygous missense variant c.298 C > T (p.Leu100Phe) in the COG5 inherited from both parents. This variant altered both protein solubility and stability, in addition to a putative disruption of the COG5-COG7 interaction. This disruption has been confirmed using patient-derived cells in vitro in a COG5 co-immuno-precipitation, where interaction with binding partner COG7 was abrogated. Hence, we established the COG5-CDG diagnosis. Clinically, the patient shared common features with the already described cases with the report of the ichtyosis as a new manifestation. Conversely, the CADD scoring revealed 19 putatively pathogenic nsSNPs (Minor Allele Frequency MAF < 0.001, CADD > 30), 11 of which had a significant impact on the solubility and/or stability of COG5. These properties seem to be disrupted by six of the seven missense COG5-CDG variants. In conclusion, our study expands the genetic and phenotypic spectrum of COG5-CDG disease and highlight the utility of the next generation sequencing as a powerful tool in accurate diagnosis. Our results shed light on a likely molecular mechanism underlying the pathogenic effect of missense COG5 variants, which is the alteration of COG5 stability and solubility.

Prenylated flavonoids from Sophora flavescens inhibit mushroom tyrosinase activity and modulate melanogenesis in murine melanoma cells and zebrafish.

Background: Sophora flavescens, a traditional Chinese medicine for treating conditions associated with abnormal skin pigmentation, contains flavonoids with inhibitory effects on tyrosinase. However, their mechanisms of action and their modulatory effects on melanogenesis remain unclear. Methods: Herein, a group of prenylated flavonoids was identified from S. flavescens extracts and their inhibitory activities on mushroom tyrosinase were evaluated. The anti-melanogenesis effects of these prenylated flavonoids were investigated in cellular (with murine melanoma cells) and animal (with zebrafish) models. Results: Prenylated flavonoids including isoanhydroicaritin (IAI), kurarinone (KR), and sophoraflavanone G (SG) were the major active constituents in S. flavescens extracts with anti-tyrosinase activity (IC50 = 0.7, 7.1, and 6.7μM, respectively). Enzyme kinetic assays showed that IAI, KR, and SG had a mixed type of tyrosinase inhibition, supported by data from computational docking. Notably, KR at concentrations of 5 and 10μM enhanced intracellular tyrosinase activity and stimulated melanin production in B16F10 cells, whereas SG and IAI did not exhibit significant activity. Further studies with the zebrafish model showed that IAI (80 and 160μM) inhibited melanin biosynthesis by about 30.0% while KR (20μM) stimulated melanogenesis by 36.9%. Furthermore, a zebrafish depigmentation model supported the anti-melanogenesis effect of IAI (80 and 160μM) by 33.0% and 34.4%, respectively. Conclusion: In summary, IAI was identified as a tyrosinase inhibitor with an anti-melanogenic effect and KR was an enhancer for melanin production in B16F10 cells and zebrafish. Findings from the current study suggest that IAI and KR from S. flavescens may exert contrasting effects in the modulation of melanin production, providing important insights into the development of S. flavescens as a cosmeceutical or medicinal ingredient.

Dermatopathological Analysis of Common Skin Lesions Encountered in Cadavers

This study served as a purpose for medical students to gain experience in both dermatology and pathology, which is a common barrier that prevents first and second year medical students from refining skills that are not later taught until residency. This prompted a study to develop gross differential diagnostic skills and how to analyze histopathology slides to diagnose common skin lesions to refine skills in both clinical and histology presentation. A cadaveric case series was designed to examine multiple shave biopsies on all abnormal skin lesions observed from nine cadavers used for the first year medical students gross anatomy lab during the year 2022-2023. Biopsies were stained using hematoxylin and eosin. Histopathology slides, though initially viewed by medical students, were confirmed by a pathologist at a later time. 25 samples were taken from the 9 cadavers. The most commonly encountered lesion was macular seborrheic keratosis, with nine of the 25 (32%). Seven of the sample lesions (26.9%) were melanocytic nevus. Two sample lesions (8.0%) from the same cadaver were a superficial cutaneous cyst and one sample lesion (3.8%) from a separate cadaver indicated verruca vulgaris. Common dermatological lesions were identified among the nine cadavers used for analysis. This provided opportunities to develop and refine skills in dermatopathology. A further increase in sample size is needed to gain exposure to a larger variety of lesions and to identify common dermatological lesions grossly based on differing race, age, and gender.

Article Review: Moringa Plant (Moringa oleifera Lamk.) as a New Candidate for Anti-Acne

Acne is an abnormal skin condition caused by excessive production of oil glands (sebaceous glands), which causes blockage of hair follicle ducts and skin pores. Acne occurs due to various factors, one of which is bacterial infection. The bacteria that cause acne are Propionibacterium acnes, Staphylococcus epidermidis, and Staphylococcus aureus. The moringa plant (Moringa oleifera Lamk.) is also known to have potential antibacterial activity against bacteria that cause acne. This research aims to determine the benefits of moringa plant as a new candidate for anti-acne. This research uses the Systematic Literature Review method by collecting data through databases such as Publish or Perish, PubMed, and Google Scholar. The results of this review article show that Moringa oleifera Lamk. leaf extract has been proven to have potential as a new candidate for anti-acne, which is characterised by the formation of an inhibition zone. Moringa leaf 96% ethanol extract using the well method best inhibits the growth of Propionibacterium acnes bacteria. Moringa leaf 96% ethanol extract using the disc diffusion method is more effective on Staphylococcus aureus bacteria. Moringa leaf 70% ethanol extract using the well method is more effective on Staphylococcus epidermidis bacteria.

The Protective Effects of Silkworm (Bombyx mori) Pupae Peptides on UV-Induced Skin Photoaging in Mice.

Silkworm (Bombyx mori) pupae are popular edible insects with high nutritional and therapeutic value. Currently, there is growing interest in the comprehensive application of silkworm pupae. In this study, peptides that exhibited anti-photoaging activity were obtained from silkworm pupae protein, aiming to investigate the protective effects and potential mechanisms of silkworm pupae peptides (SPPs) on skin photoaging. The results showed that SPPs were composed of 900 short peptides and could effectively alleviate skin photoaging progression. They significantly eliminated excessive production of ROS and MDA; meanwhile, they also renovated the antioxidant enzyme activities. The biomarkers related to collagen synthesis and degradation, including hydroxyproline, interstitial collagenase, and gelatinase, demonstrated that SPPs could suppress collagen degradation. Histopathological results showed that SPPs could reduce the inflammatory infiltrate and the thickness of the dermis and epidermis, as well as increase the collagen bundles and muscle fibers. The histopathological and biochemical results confirmed that SPPs could alleviate photoaging by inhibiting abnormal skin changes, reducing oxidative stress, and immune suppression. Overall, these data prove the protective effects of SPPs against the photoaging process, suggesting their potential as an active ingredient in skin photoaging prevention and therapy.

Recombinant scFv-Fc Anti-kallikrein 7 Antibody-Loaded Thermosensitive Hydrogels Against Skin Desquamation Disorders.

Human tissue kallikrein-related peptidase 7 (KLK7) is a serine protease implicated in the physiology of skin desquamation, and its uncontrolled activity can lead to chronic diseases such as psoriasis, atopic dermatitis, and Netherton syndrome. For this reason, kallikrein 7 has been identified as a potential therapeutic target. This work aimed to evaluate Pluronic (PL) hydrogels as topical carriers of four specific scFv-Fc antibodies to inhibit KLK7. The hydrogels comprised PL F127 (30% w/v) alone and a binary F127/P123 (28-2% w/v) system. Each formulation was loaded with 1 μg/mL of each antibody and characterized by physicochemical and pharmaceutical techniques, considering antibody-micelle interactions and hydrogel behavior as smart delivery systems. Results showed that the antibodies were successfully loaded into the PL-based systems, and the sol-gel transition temperature was shifted to high values after the P123 addition. The antibodies released from the gels preserved their rheological properties (G' > G'', 35- to 41-fold) and inhibitory activity against KLK7, even after 24 h. This work presented potential agents targeting KLK7 that may provide strategies for treating skin abnormalities.

Successful treatment of retinopathy of prematurity in oculocutaneous albinism with OCA2 variants: a case report and review of literature

BackgroundOculocutaneous albinism (OCA) is a group of autosomal recessive hereditary disorders that affect melanin biosynthesis, resulting in abnormalities in hair, skin, and eyes. Retinopathy of prematurity (ROP) is a proliferative retinopathy mainly observed in premature infants with low birth weight and early gestational age, but it can also affect full-term infants or children with normal weight, particularly in developing countries. The coexistence of ROP and OCA is rare. There is limited documentation regarding treatment approaches, with few studies reporting positive outcomes with laser treatment due to the absence of melanin pigment. This study discusses the treatment challenges in a female infant diagnosed with ROP and OCA, and underscores the importance of genetic analysis in guiding therapeutic decisions for this rare comorbid condition.Case presentationThe study presents a case of ROP occurring concurrently with OCA. Genetic testing revealed two variants, c.727C > T (p.R243C) and c.1832 T > C (p.L611P), in the OCA2 gene, inherited from the patient's mother and father, respectively. The identified mutations were consistent with a diagnosis of OCA2, classified as a subtype of OCA. The patient initially received intravitreal anti-vascular endothelial growth factor (anti-VEGF) injection, followed by laser photocoagulation therapy for a recurrent event. A favorable outcome was observed during the 2-month follow-up period.ConclusionsThe co-occurrence of ROP and OCA is a rare phenomenon, and this is the first recorded case in the Chinese population. The current case supports the use of laser as the primary treatment modality for ROP in OCA2 patients with partial pigmentation impairment. Furthermore, genetic analysis can aid in predicting the effectiveness of laser photocoagulation in this patient population.

Associations between Celiac Disease, Extra-Gastrointestinal Manifestations, and Gluten-Free Diet: A Narrative Overview.

Millions of children and adults worldwide suffer from undiagnosed and untreated celiac disease (CeD). The clinical picture of CeD is highly heterogeneous and comprises manifestations that can affect almost the whole body. This narrative overview is aimed at characterizing diseases and complaints that are associated with unrecognized CeD and that frequently involve sites other than the gastrointestinal (G.I.) tract, i.e., dental, otorhinolaryngological, and ocular complications; skin and hair abnormalities; afflictions of the bones, joints, and muscles; cardiovascular affectations; kidney diseases; neuro-psychiatric disorders; and gynecological-obstetrical manifestations. The association between CeD and extra-GI manifestations is frequently overlooked, which leads to a delay in diagnosis. Most CeD-mediated disorders can be treated with a strict gluten-free diet (GFD), but some of them are irreversible unless CeD is diagnosed in time. Some manifestations can be classified as risk factors for CeD, and CeD screening tests for affected patients should be selectively considered. Apart from gastroenterologists, specialists in other medical disciplines can play an important role in identifying people with unrecognized CeD and may help prevent its progress and long-term complications. Further comprehensive investigations are necessary to clarify the pathogenesis of extra-GI manifestations and the effect of a GFD.

AT2R Activation Improves Wound Healing in a Preclinical Mouse Model.

Abnormal skin healing resulting in chronic wounds or hypertrophic scarring remains a major healthcare burden. Here, the antifibrotic angiotensin II type 2 receptor (AT2R) signaling pathway was modulated to determine its impact on cutaneous wound healing. Balb/c mice received two splinted full-thickness wounds. Topical treatments with the selective AT2R agonist compound 21 (C21) and/or selective antagonist PD123319 or saline vehicle were administered until sacrifice on post-wounding days 7 or 10. The rate of wound re-epithelialization was accelerated by PD123319 and combination treatments. In vitro, C21 significantly reduced human fibroblast migration. C21 increased both collagen and vascular densities at days 7 and 10 post-wounding and collagen I:III ratio at day 10, while PD123319 and combination treatments decreased them. Genes associated with regeneration and repair were upregulated by C21, while PD123319 treatment increased the expression of genes associated with inflammation and immune cell chemotaxis. C21 treatment reduced wound total leukocyte and neutrophil staining densities, while PD123319 increased these and macrophage densities. Overall, AT2R activation with C21 yields wounds that mature more quickly with structural, cellular, and gene expression profiles more closely approximating unwounded skin. These findings support AT2R signal modulation as a potential therapeutic target to improve skin quality during wound healing.

Using network pharmacology to discover potential drugs for hypertrophic scars.

Hypertrophic scarring is a disease of abnormal skin fibrosis caused by excessive fibroblast proliferation. Existing drugs have not achieved satisfactory therapeutic effects. To explore the molecular pathogenesis of hypertrophic scars and screen effective drugs for their treatment. Existing human hypertrophic scar RNA sequencing data were utilized to search for hypertrophic scar-related gene modules and key genes through weighted gene co-expression network analysis (WGCNA). Candidate compounds were screened in a compound library. Potential drugs were screened by molecular docking and verified in human hypertrophic scar fibroblasts and a mouse mechanical force hypertrophic scar model. WGCNA showed that hypertrophic scar-associated gene modules influence focal adhesion, the transforming growth factor (TGF)-β signalling pathway and other biologic pathways. Integrin β1 (ITGB1) is the hub protein. Among the candidate compounds obtained by computer virtual screening and molecular docking, crizotinib, sorafenib and SU11274 can inhibit the proliferation and migration of human hypertrophic scar fibroblasts and profibrotic gene expression. Crizotinib had the best effect on hypertrophic scar attenuation in mouse models. At the same time, mouse ITGB1 small interfering RNA can also inhibit mouse scar hyperplasia. ITGB1 and TGF-β signalling pathways are important for hypertrophic scar formation. Crizotinib could be a potential treatment drug for hypertrophic scars.

Study on the relationship between peripheral nerve fiber types and levodopa usage in Parkinson's disease.

<p>The aim of this study is to comprehensively determine the types of affected fibers in Parkinson&rsquo;s disease (PD) patients by employing nerve conduction studies (NCS), sympathetic skin response (SSR) examinations, and current perception threshold (CPT) testing and to analyze the correlation between levodopa use and nerve involvement.</p>. <p>This retrospective study included 36 clinically diagnosed PD patients who were recruited between January 2018 and April 2019. All patients underwent NCS, SSR testing, and CPT sensory examinations. Additionally, the PD patients were assessed for disease staging using the Hoehn and Yahr (H-Y) scale.&nbsp;</p>. <p>Fifteen patients were included in the tremor-dominant subtype, ten patients in the rigid-dominant subtype, and eleven patients in the mixed subtype. Eleven patients were using levodopa, while twenty-five patients had never used any anti-Parkinson&rsquo;s medication. Ten patients (28%) showed abnormal sympathetic skin responses (SSR). The CPT examination revealed sensory abnormalities in twenty-four patients (67%), with eighteen patients (75%) experiencing sensory hypersensitivity and six patients (25%) experiencing sensory hypoesthesia. Twelve patients (33%) had normal CPT results. Among the patients with abnormal CPT findings, seven cases (29%) involved large myelinated fiber damage, twenty-two cases (92%) involved small myelinated fiber damage, and nineteen cases (79%) involved unmyelinated fiber damage. The rate of sensory abnormalities was 64% (7/11) in the levodopa group and 68% (17/25) in the non-levodopa group, with no statistically significant difference between the two groups.&nbsp;</p>. <p>The incidence of abnormal CPT findings in PD patients was higher than that of abnormal SSR responses, suggesting that nerve fiber damage primarily affects small fiber nerves (SFN).</p>.

Ethanol embolization of arteriovenous malformations in the buttock: ten-year experiences in diagnoses and treatment options

BackgroundClinically, arteriovenous malformations in the buttocks (bAVMs) are extremely rare. Our study aimed to evaluate the efficacy and safety of ethanol embolotherapy in managing bAVMs.ResultsA total of 32 patients with bAVMs (14 females and 18 males) from 2012 to 2021 were included in this study. All patients underwent complete clinical and imaging examinations. Further, the AVMs lesions were analyzed according to Schöbinger staging and Yakes classification. Each patient had undergone a multistage ethanol embolization. The amelioration of clinical symptoms and devascularization on angiography were evaluated at regular follow-ups. In the present cohort, the 11–20 age group had the most patients (15/32; 46.88%). A total of 124 embolization procedures were performed (average 3.88 procedures per patient), and the average dose of absolute ethanol was 18.96 mL per procedure. Thirteen patients with dominant draining veins underwent additional coil deployment before ethanol embolization (13/32; 40.63%). During follow-ups, clinical improvement was found in 23 of 27 who presented with a pulsating mass (85.19%), 17 of 20 with abnormal local skin temperature (85%), 5 of 6 with bleeding (83.33%), and 5 of 5 patients treated for pain (100%). More than 75% angiographic devascularization was achieved in 18 patients (18/32; 56.25%). Finally, 12 out of 13 patients (92.31%) reduced from Schöbinger Stage III to a lower grade, and ten patients exhibited a complete response (10/32; 31.23%). There was a single serious complication of local necrosis, while neither paranesthesia nor infection was observed postoperatively.ConclusionsEthanol embolization assisted with coils can treat bAVMs effectively and safely. The Yakes classification contributed to the optimal ethanol embolotherapy of bAVMs.

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.

Does sensitive skin lie in epidermal barrier impairment or abnormalities? Results from an observational study assessing biophysical parameters.

The pathophysiology of sensitive skin is largely unknown and no univocal data on the role of the epidermal barrier impairment have been identified. The aim of this study was to assess whether subjects with or without sensitive skin differ for some biophysical skin parameters, which reflect skin barrier integrity or skin hyperactivity. This observational, cross-sectional study included adult volunteers not affected with chronic inflammatory skin diseases who attended the Unit of Dermatology and the Center of Cosmetology of the University of Ferrara, Ferrara, Italy, between March 2021 and November 2022. All subjects, subdivided into those with or without sensitive skin, based on either Lactic Acid Stinging Test (LAST) result or a questionnaire-based skin sensitivity score ≥4, were tested for transepidermal water loss (TEWL), skin elasticity and hydrations and dermographism. One hundred and eighty-seven subjects were included. No significant differences in terms of TEWL, elasticity and hydration levels were recorded between subjects with sensitive skin and those without, subdivided according to both the LAST result and the questionnaire score. Dermographism was elicited more in subjects with sensitive skin than in the others, although without statistical significance. The study failed to find significant biophysical differences between sensitive and non-sensitive skin. Therefore, the role of skin barrier impairment does not appear to be a necessary condition in determining an abnormal skin sensitivity to potentially unpleasant and irritating stimuli. These findings indirectly support the relevance of a peripheral sensory neural hyperactivity in the pathophysiology of sensitive skin.

Intervention for critical aortic stenosis in Hutchinson-Gilford progeria syndrome.

Hutchinson-Gilford Progeria Syndrome (HGPS) is an ultra-rare genetic premature aging disease that is historically fatal in teenage years, secondary to severe accelerated atherosclerosis. The only approved treatment is the farnesyltransferase inhibitor lonafarnib, which improves vascular structure and function, extending average untreated lifespan of 14.5 years by 4.3 years (30%). With this longer lifespan, calcific aortic stenosis (AS) was identified as an emerging critical risk factor for cardiac death in older patients. Intervention to relieve critical AS has the potential for immediate improvement in healthspan and lifespan. However, HGPS patient-device size mismatch, pervasive peripheral arterial disease, skin and bone abnormalities, and lifelong failure to thrive present unique challenges to intervention. An international group of experts in HGPS, pediatric and adult cardiology, cardiac surgery, and pediatric critical care convened to identify strategies for successful treatment. Candidate procedures were evaluated by in-depth examination of 4 cases that typify HGPS clinical pathology. Modified transcatheter aortic valve replacement (TAVR) and left ventricular Apico-Aortic Conduit (AAC) placement were deemed high risk but viable options. Two cases received TAVR and 2 received AAC post-summit. Three were successful and 1 patient died perioperatively due to cardiovascular disease severity, highlighting the importance of intervention timing and comparative risk stratification. These breakthrough interventions for treating critical aortic stenosis in HGPS patients could rewrite the current clinical perspective on disease course by greatly improving late-stage quality of life and increasing lifespan. Expanding worldwide medical and surgical competency for this ultra-rare disease through expert information-sharing could have high impact on treatment success.

Vogt-Koyanagi-Harada Disease: A Narrative Review.

Vogt-Koyanagi-Harada (VKH) disease is an idiopathic immune-related sickness that affects multiple systems and melanocytes in organs such as the uvea, ear, and meninges. The primary cause of activity is cellular immunological responses. Vogt-Koyanagi disease is identified primarily by skin abnormalities and anterior uveitis. Harada's illness is distinguished by neurological symptoms and exudative retinal detachments, which are associated with the HLA-DR4 and HLA-DRw53 genes.Pigmented races, such as Hispanics and Native Americans, are more likely to have VKH disease. Clinical features are blurred vision, floaters, alopecia, vitiligo, diffuse choroidal inflammation with disc edema, and exudative retinal detachment. Differential diagnoses include posterior scleritis, uveal effusion syndrome, central serous chorioretinopathy, and sympathetic ophthalmitis. The investigations used are optical coherence tomography (OCT), fundus fluorescein angiography (FA), and B-scan ultrasonography (USG). Treatment is done by using systemic steroids, cycloplegics, and immunosuppressants.

Role of Dermal Factors Involved in Regulating the Melanin and Melanogenesis of Mammalian Melanocytes in Normal and Abnormal Skin.

Mammalian melanin is produced in melanocytes and accumulated in melanosomes. Melanogenesis is supported by many factors derived from the surrounding tissue environment, such as the epidermis, dermis, and subcutaneous tissue, in addition to numerous melanogenesis-related genes. The roles of these genes have been fully investigated and the molecular analysis has been performed. Moreover, the role of paracrine factors derived from epidermis has also been studied. However, the role of dermis has not been fully studied. Thus, in this review, dermis-derived factors including soluble and insoluble components were overviewed and discussed in normal and abnormal circumstances. Dermal factors play an important role in the regulation of melanogenesis in the normal and abnormal mammalian skin.

Filaggrin Gene, Chromosome band 9q34.3, SPINK5, ALCAM and Transepidermal Water Loss

Background Epidermal integrity and transepidermal water loss (TEWL) are highly correlated and crucial to healthy skin. Aim Review recent on the genetic control of transepidermal water loss and understand the resulting skin abnormalities due to negative gene control. Methods Searched scientific web pages, Pubmed, Science direct, Google Scholar, for recent (year: 2010 to 2020) experimental data. (N=7 scientific studies were analyzed) Results Relevance of these studies relates to major topics in the genetics of transepidermal water loss, but few concluded that genetic markers such as filaggrin, 9q34.3, and ALCAM correlates with transepidermal water loss. These genetic markers suggest that they can increase water diffusion and decrease when the markers are detected. It is crucial to understand how TEWL is controlled in order for sufficient barrier function. Conclusion The dependence on water regulator proteins such as aquaporins and tight junction proteins decreases as skin matures, and the level of these proteins and TEWL relate to gestation age. Molecular control of TEWL through such proteins is an indication of healthy skin. Further elaboration on these proteins and genes discussed should help understand their regulatory patterns to protect the stratum corneum.