Xeroderma Research Articles

Prevalence and Contributing Factors of Acne Vulgaris Among the General Population in the Jazan Region, Saudi Arabia: A Cross-Sectional Study.

Acne vulgaris is one of the most prevalent inflammatory conditions in the world that primarily affects teenagers. Its prevalence and the contributing factors vary across different regions and populations. Genetic predisposition, hormonal influences, dietary habits, lifestyle choices, and environmental factors are believed to be significant contributors. This was a cross-sectional study involving 419 participants from the Jazan region, Saudi Arabia. The study employed non-probability convenience sampling techniques. Data were collected through online questionnaires and analyzed using Statistical Product and Service Solutions (SPSS, version 27; IBM SPSS Statistics for Windows, Armonk, NY). The study found that acne prevalence was high, affecting more than half (66.8%) of the participants, with mild severity reported by 51.8%. Pimples were most commonly found on the face (65.2%), followed by the back (45.3%) and chest (29.6%). Participants with oily skin had twice the likelihood of acne compared to those with dry skin (OR=2.14). Increasing age was associated with a 5% decrease in acne risk per year. Significant associations were found for age (p=0.010), female gender (p=0.017), and oily skin (p<0.001) with acne development. The study found a high prevalence rate of acne vulgaris among the young population in the Jazan region, Saudi Arabia.Age, female gender, and having oily skin were predictors for developing acne vulgaris. Complications such as acne scarring and psychological impacts such as shyness underscore the significant burden of acne on social and psychological well-being. Enhanced treatment and improved quality of life necessitate heightened awareness campaigns concerning acne vulgaris, its treatments, and associated complications, as revealed by the study.

An open-labeled randomized non-comparative clinical trial on the efficacy of fairfoot ointment in Vipadika

In Ayurveda, cracked or fissured feet are often associated with an imbalance in the Vata dosha. An excess of Vata in the body can lead to various skin issues, including dry and cracked skin, not only on the feet but on other parts of the body. Fairfoot ointment, a proprietary product, is an antifungal and antiseptic combination of Jathyadi Grutham, Jeevanthyadi Yamakam and Karanja Thailam, intended for external application of cracked feet and other skin conditions like chapped lips, anal fissures etc. An open-labeled randomized non-comparative clinical trial study was conducted on 30 patients presenting with cracked feet, fissures, dry scaly skin, pain, and itching to prove the efficacy in Vipadika. The associated symptoms of pigmentation and skin elasticity were also evaluated as part of this trial. A visual analog scale (VAS) was used to quantify pain. On a Likert scale of 1 to 5, dryness, wrinkles, scaling, itching, and skin laxity were scored. At each point of examination, the amount of cracking and pigmentation were counted. The study involved four evaluations of the participants. Following pairwise analysis using the SPSS 16.0 program, data were examined using Repeated Measure ANOVA. The results of the study showed a considerable reduction in the symptoms of dryness, cracking, pain, and itching. Additionally, there was a statistically significant decline in the symptoms of skin laxity, wrinkles, sealing, and pigmentation. No adverse events were observed during the course of the experiment, suggesting that the medication is safe. Clinical findings indicate that Fairfoot ointment could be used for the improvement and treatment of patients with Vipadika.

Subjective Skin Condition and Beauty Therapy Preference of Female College Students

Purpose: We investigated the beauty therapies preferred by female college students based on their subjectively perceived skin condition and type, as well as how female college students evaluate their skin condition and type to provide optimal beauty for different skin types.Methods: Beauty students who could correctly identify beauty therapy and their own skin condition and type were chosen from those who had taken beauty therapy-related classes for more than 4 semesters, and 158 copies were used as final statistical analysis data.Results: According to the individual’s subjective skin condition and type, most female college students believe that they had combination skin with a significant difference in the oil levels between the T-zone and both cheeks, and they felt sensitive due to the lack of oil and moisture in the cheek area. In terms of subjective skin condition type and beauty therapy preference differences, massage therapy was strongly recommended for those with combination skin, Pango therapy for those with oily skin, and chocolate therapy for those who considered themselves to have dry skin. In terms of subjective skin condition type and beauty therapy satisfaction differences, those with oily skin reported being satisfied with the feeling that their face was clean, their skin was moisturized, and their skin felt tight, whereas those with oily and sensitive skin were extremely satisfied with the scent during beauty treatment.Conclusion: As a beauty therapy program reflecting these characteristics, it is deemed appropriate to improve the lactation balance by combining aromatherapy, chocolate therapy, and massage therapy.

Antioxidant Effectiveness Test of Kapok Leaf Extract Moisturizer (Ceiba Pentandra (L.) Gaertn.) with DPPH Method

Dry skin can often cause psychological discomfort. Moisturizer is a preparation that is used to improve dry skin. Kapok plant (Ceiba pentandra L. Gaertn) can be used as an active ingredient of moisturizer and can be used as a treatment, where the chemical content in kapok leaves are flavonoids, saponins, alkaloids, phenolic compounds, tannins and terpenoids as antioxidants. This study aims to determine the antioxidant activity of kapok leaf extract and moisturizer preparations with DPPH method using UV-Vis spectrophotometer, physical quality of preparations and antioxidant activity of moisturizer preparations using DPPH method. Kapok leaf extract was made in various concentrations, namely 20 ppm, 40 ppm and 60 ppm. The IC50 value of kapok leaf extract is 67.4007 ppm which has strong antioxidant activity. Then variations in the concentration of kapok leaf extract were put into the formulation of moisturizer preparations, the results of moisturizer preparations of kapok leaf extract and vitamin C met the requirements of the physical quality test. The moisturizer preparation was continued and tested for antioxidant activity using the DPPH method with ascorbic acid as a comparison. The results of the IC50 value on the kapuk leaf extract moisturizer preparation are 110.065 ppm which is classified as having moderate antioxidant activity and while the vitamin C moisturizer preparation is 9.8417 ppm which is classified as having very strong antioxidant activity.

Efficiency of 7-dehydrocholesterol vitamin-D3 complex cream for xerosis and pruritus in elderly women

Background: Xerosis and pruritus (XP) are the most common skin conditions in the elderly, manifesting clinically as roughness, scales, fissures, and mild-to-severe itching. Vitamin D improves skin hydration, transepidermal water loss (TEWL), and regulates the immune system. We aimed to determine the efficiency of topical 7-dehydrocholesterol (DHC)-vitamin D3 complex cream in elderly patients with XP. Methods: An experimental phase III study was performed on elderly women with XP from December 2021 to March 2022 at the Geriatric Dermatology Clinic of Dr. Mohammad Hoesin General Hospital, Palembang. Inclusion criteria were age older than 55 years, healthy or with comorbidity. The exclusion criteria include the use of moisturizer within two weeks before the study. DHC-vitamin D3 cream was applied on subject’s volar arms once a day. Overall dry skin score (ODSS), visual analog scale (VAS) for pruritus and adverse effects, skin hydration, TEWL, sebum level, serum vitamin D level, and dermatology life quality index (DLQI) were assessed at baseline and after 4 weeks. Statistical analysis was done with Wilcoxon and paired T-test. Results:Eighteen elderly women were included. Most subjects were 60 to 74 years old (83,3%). Half the subjects (50%) had comorbidity. There was a significant difference in skin hydration (p Conclusion: Topical 7-DHC vitamin D3 complex cream is proven to improve skin barriers, increase serum vitamin D levels, well-tolerated, and provided satisfaction and comfort in elderly women with XP.

Hubungan Suhu dan Kelembapan Ruangan Terhadap Sick Building Syndrome (SBS) di UPTD Balai Pengujian dan Sertifikasi Mutu Barang (BPSMB) Samarinda

Samarinda is one of the cities in East Kalimantan, in Samarinda itself there are many office buildings that use AC coolers. One of the office buildings in Samarinda is the Quality Testing and Certification Center of East Kalimantan’s Building (UPTD. Balai Pengujian dan Sertifikasi Mutu Barang Provinsi Kalimantan Timur). Room temperature and humidity greatly affect the level of worker productivity, but not many people understand the existence of sick building syndrome (SBS). The purpose of this study was to determine the characteristics of employees regarding SBS complaints based on age and length of work and to find out the description of room temperature and humidity at UPTD BPSMB. The type of research used is non-probability sampling with a descriptive approach. The sample in this study were UPTD BPSMB Samarinda employees with a sample size of 20 people. The sampling technique was determined by purposive sampling method. The results of this study showed that the most commonly experienced symptoms were dry skin (50%), drowsiness (40%), dry lips and fatigue (20%), eye irritation, headaches, and difficulty concentrating (15%). From the results of the cross-tabulations that were carried out, it was found that there was no relationship between temperature and SBS, age and SBS, and duration of work with SBS, Still, there was a relationship between humidity and SBS. It is suggested to the UPTD BPSMB to monitor the room at least once a month to see the temperature and humidity conditions of the room so that employees can work comfortably and can increase employee productivity.

Severe Atopic Dermatitis Treated by Wet Wrapping: An Observation at the Dermatology Hospital of Bamako (Mali)

Introduction: Wet wrapping is a local care technique adapted to the treatment of severe forms of eczema. It is a good alternative for AD resistant to the usual local treatments. We report a case. Observation: A 5-month-old infant, with a personal history of allergic rhinitis has been seen in a dermatological for diffuse skin eruption and pruritus evolving in flare-ups since 4 months, without improvement after several courses of dermocorticoids, anti-H1, and emollient from several doctors. Clinical examination revealed erythematous plaques surmounted by vesicles with a crumbled border located on the convexities and extension face of the limbs and in the folds behind the ears and diffuse skin xerosis. The examination of the other devices was unremarkable. The evaluated SCORAD was 59.8. We carried out the treatment by the wet wrapping technique, a clear regression of the cutaneous lesions and pruritus with the decrease of the SCORAD from 59.8 to 8.8 in 1 month of treatment. Discussion: This observation further illustrates the effectiveness of the Wet wrapping technique in the management of recalcitrant atopic dermatitis. In resource-poor countries, Wet wrapping may be an alternative for recalcitrant forms of atopic dermatitis. For fostering critical nurse observation as a source of research topics, we propose four strategies. First, cultivating awareness through a culture of evidence-based practice and critical reflection on common practice. Second, stimulating persistence in addressing moral dilemmas concerning better care despite resistance. Third, facilitating interprofessional learning in an open culture, where diverse perspectives are valued, and it is psychologically safe to bring them in. Fourth, overcoming funding disparities and facilitating nurse-led research, acknowledging the underrepresentation of nurses in funding agencies. These measures aim to empower nurses to observe critically, use their unique perspectives, and bring in research topics.

Delivery of small hydrophilic molecules across the stratum corneum: Identification of model systems and parameters to study topical delivery of free amino acids

Free amino acids (FAAs) constitute the largest component (∼40 %) of the so-called natural moisturizing factors of the skin. Their level declines in dry skin conditions and one strategy to overcome this problem may involve the topical delivery of FAAs through appropriate strategy. The objective of the present study was therefore to identify alternative skin models and study the corneocyte-water partition coefficients (KCOR/W) and permeation coefficient (KP) of 18 FAAs. The KCOR/W was studied using standard protocols and the permeation studies were conducted using Franz diffusion cell. The results indicate that the FAAs have high partitioning behavior to the corneocytes. The KCOR/W values of the human COR and that of pig ear skin were better correlated with each other than that of keratin isolated from chicken feathers. The presence of lipid in the stratum corneum (SC), initial concentration of the FAAs, and permeation enhancers affect the KCOR/W. The FAAs have low permeation into the SC which suggests the need for permeation enhancers in designing dosage form containing these compounds. Even though the investigated mathematical models show good prediction of the Kp values, better prediction could be obtained by considering factors such as the possible entrapment of the FAAs by the CORs.

Frequency and Determinants of Depression in Hypothyroidism Patients at a Tertiary Care Hospital in the Western Region of Saudi Arabia.

Several studies have reported a strong association between depression and hypothyroidism, including from several regions of Saudi Arabia. However, studies on the frequency of depression among patients with hypothyroidism from the Western region of Saudi Arabia is limited. To determine the frequency and risk factors of depression among patients with hypothyroidism in the Western Region of Saudi Arabia. This cross-sectional study was conducted at a tertiary care hospital in Jeddah, Saudi Arabia, and included adult patients diagnosed with hypothyroidism. After contacting the patients through phone calls and obtaining their consent, a questionnaire weblink was sent. The first part of the questionnaire elicited details regarding demographics and history of hypothyroidism, while the second part comprised the Arabic version of the Patient Health Questionnaire-9 to evaluate depression. A total of 100 patients completed the survey, of which 80% were found to have depression (mild: 35%, moderate: 26%, moderate to severe: 12, severe: 7%). There was no significant association between depression and gender, age group, employment status, and marital status. In the bivariate analysis, a significant association was found between depression and reporting fatigue (P < 0.001), constipation (P < 0.001), hair loss (P = 0.002), cold intolerance (P = 0.014), dry skin (P = 0.028), memory problems (P = 0.029), and menorrhagia (P = 0.037). However, in the multivariate analysis, only reporting fatigue was found to be significantly associated with depression (P = 0.040; OR = 15.215). This study found that the prevalence of depression was very high among patients with hypothyroidism in the Western region of Saudi Arabia, and that fatigue is an independent risk factor of depression.

Heat and moisture transfer through skin-clothing microclimate

The microclimate between clothing and human skin plays an important role in the heat and moisture exchange between body and ambient environment, which is essential to the thermo-physiological comfort. Despite extensive research on microclimate heat transfer, the sweating process accompanying heat transfer has often been neglected, and the investigation of transport mechanisms is limited. In this study, the heat and moisture transfer from skin to environment was experimentally and numerically simulated with focus on factors such as microclimate thickness (0 mm ∼ 40 mm), tilt angle (0° ∼ 90°), and airflow direction (parallel and normal to the fabric surface). The skin was represented by a surface with uniform temperature in experiments and numerical simulations, and the fabric was modeled as an air-permeable porous medium in the numerical simulations. The experimentally validated numerical model provided detailed distributions of temperature, vapor concentration, and airflow patterns in the microclimate for both dry and wet skins. The airflow of natural convection featured multiple circulation cells, and their circulation times were calculated and then related to the microclimate transport performance. It was found that natural convection dominates the heat and moisture transfer in thicker microclimates. It was also found that normal airflow was more effective in facilitating the heat and moisture transfer as compared to parallel airflow. The results are useful for developing high-performance clothing optimized for thermal regulation and moisture management, improving comfort and safety in different conditions.

Edukasi Dan Skrining Gula Darah Dan Anemia Dalam Rangka Mencegah Terjadinya Kulit Kering Pada Kelompok Lanjut Usia

Xerosis or dry skin occurs when the skin loses moisture, causing itching, cracking and dullness. This condition is common in the elderly due to physiological changes such as decreased activity of the sebaceous and sweat glands, as well as impaired skin barrier function. Anemia and uncontrolled blood sugar levels can worsen dry skin conditions in the elderly. Therefore, this community service activity was carried out with the aim of increasing awareness of the elderly about the importance of maintaining healthy skin related to anemia and blood sugar. This activity includes education about preventing and managing dry skin, controlling blood sugar, and treating anemia. This activity uses the PDCA method to ensure that the activity process runs systematically and can be evaluated. The results of the activity showed that the majority of participants experienced mild anemia and a small number had abnormal blood sugar. This shows that intervention and health education are needed for the elderly group to improve their quality of life by maintaining hydration of their skin.

LGG-54. PEDIATRIC LOW-GRADE GLIOMAS TREATED WITH MEK INHIBITORS

Abstract BACKGROUND Low-grade gliomas (LGG) represent the most common brain tumor in children. It is well known that these tumors present mutations involving the BRAF gene, causing activation of the MAPK/ERK pathway. MEK inhibitors have now become an important treatment option over the recent years, slowing the growth of cancer cells. METHODS Retrospective analysis of 23 patients with LGG that were treated with MEK inhibitors at Nicklaus Children’s Hospital between 2015-2022. RESULTS Of the 23 patients; 6 were males and 17 were females, with a median age at diagnosis of 9.5 years of age. BRAF V600E mutation was present in 52% of patients (9/17). Other mutations found were: BRAF, BRAF KIAA1549, p.Q61K, and FGFR. Six patients had known associations with NF1. 7 of 23 patients had not received any prior treatment before MEK therapy, 8 underwent partial or total resection only prior, 4 had previous chemotherapy treatment, 3 underwent resection with chemotherapy, and 1 patient had both chemotherapy and proton radiation prior to MEK therapy. Targeted therapies included Trametinib (17/23), Dabrafenib (9/23), Selumetinib (5/23), and Binimetinib (1/23). Of the 9 patients with BRAF V600E mutation, 7/9 were given dual targeted therapies whereas only two were treated with only one inhibitor. The average length of therapy was one year. Most reported side effects were dermatologic manifestations such as dry skin or acne (9/23). Five patients showed objective improvement, 16 patients had stable residual disease, one had local recurrence, and one patient expired. Currently 12 patients are off therapy and 10 remain on treatment. Of the patients with BRAF V600E mutation, 4 had clinical and/or radiologic response, 1 patient expired due to disease progression and 1 has stable disease. CONCLUSION MEK inhibitors as a treatment of pediatric low-grade gliomas demonstrated promise as a therapeutic approach, so far proving to slow progression of disease in some cases. However, long-term side effects and toxicity remain unknown. Further large-scale prospective analysis would be helpful in future studies.

Ocular Changes in Cystic Fibrosis: A Review.

Cystic fibrosis (CF), also known as mucoviscidosis, is the most common autosomal recessive genetic disease in the Caucasian population, with an estimated frequency of 1:2000-3000 live births. CF results from the mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene localized in the long arm of chromosome 7. The product of CFTR gene expression is CFTR protein, an adenosine triphosphate (ATP)-binding cassette (ABC) transporter that regulates the transport of chloride ions (Cl-) across the apical cell membrane. Primary manifestations of CF include chronic lung and pancreas function impairment secondary to the production of thick, sticky mucus resulting from dehydrated secretions. It is well known that CF can cause both anterior and posterior ocular abnormalities. Conjunctival and corneal xerosis and dry eye disease symptoms are the most characteristic manifestations in the anterior segment. In contrast, the most typical anatomical and functional changes relating to the posterior segment of the eye include defects in the retinal nerve fiber layer (RNFL), vascular abnormalities, and visual disturbances, such as reduced contrast sensitivity and abnormal dark adaptation. However, the complete background of ophthalmic manifestations in the course of CF has yet to be discovered. This review summarizes the current knowledge regarding ocular changes in cystic fibrosis.

Frictional Properties of Soaps with the Addition of Ground Hazelnut Shells.

The search for new technologies and related new biological materials for use in the cosmetics industry requires many studies and analyses of not only chemical but also physical properties. This study attempts to assess the properties of soap produced with the addition of crushed hazelnut shells. This additive is intended to improve the friction properties of the soap, which in turn enhances the quality of removing impurities from the skin. Friction tests for wet and dry skin were performed on an appropriately designed measuring station using the Texture Analyser XT plus device. The obtained results indicate an increase in dynamic friction value compared to the control sample. This work proposes an unconventional use of ground hazelnut shells as one of the additives in soap production to improve its quality.

Induction of Semaphorin 3A by Resveratrol and Pinostilbene via Activation of the AHR-NRF2 Axis in Human Keratinocytes.

Semaphorin 3A (SEMA3A), a nerve-repellent factor produced by keratinocytes, has an inhibitory effect on nerve extension to the epidermis. Epidermal innervation is involved in pruritus in inflammatory skin diseases such as atopic dermatitis (AD) and dry skin. We previously reported that tapinarof, a stilbene molecule, upregulates SEMA3A in human keratinocytes. We also showed that this mechanism is mediated via the aryl hydrocarbon receptor (AHR), a ligand-activated transcription factor, and the nuclear factor erythroid 2-related factor 2 (NRF2) axis. Since some stilbenes activate AHR and NRF2, we attempted to identify other stilbenes that upregulate SEMA3A. We analyzed normal human epidermal keratinocytes (NHEKs) treated with 11 types of stilbenes and examined SEMA3A expression. We found that resveratrol and pinostilbene, antioxidant polyphenols, upregulated SEMA3A and increased nuclear AHR and NRF2 expression. In addition, AHR knockdown by small interfering RNA (siRNA) transfection abolished the NRF2 nuclear expression. Furthermore, AHR and NRF2 knockdown by siRNA transfection abrogated resveratrol- and pinostilbene-induced SEMA3A upregulation. Finally, we confirmed that resveratrol and pinostilbene increased SEMA3A promoter activity through NRF2 binding using ChIP-qPCR analysis. These results suggest that resveratrol and pinostilbene upregulate SEMA3A via the AHR-NRF2 axis in human keratinocytes.

Targeting S. aureus Extracellular Vesicles: A New Putative Strategy to Counteract Their Pathogenic Potential.

Long-term inflammatory skin disease atopic dermatitis is characterized by dry skin, itching, and eczematous lesions. During inflammation skin barrier protein impairment promotes S. aureus colonisation in the inflamed skin, worsening AD patient's clinical condition. Proteomic analysis revealed the presence of several immune evasion proteins and virulence factors in S. aureus extracellular vesicles (EVs), suggesting a possible role for these proteins in the pathophysiology of atopic dermatitis. The objective of this study is to assess the efficacy of a wall fragment obtained from a patented strain of C. acnes DSM28251 (c40) and its combination with a mucopolysaccharide carrier (HAc40) in counteract the pathogenic potential of EVs produced by S. aureus ATCC 14458. Results obtained from in vitro studies on HaCaT keratinocyte cells showed that HAc40 and c40 treatment significantly altered the size and pathogenicity of S. aureus EVs. Specifically, EVs grew larger, potentially reducing their ability to interact with the target cells and decreasing cytotoxicity. Additionally, the overexpression of the tight junctions mRNA zona occludens 1 (ZO1) and claudin 1 (CLDN1) following EVs exposure was decreased by HAc40 and c40 treatment, indicating a protective effect on the epidermal barrier's function. These findings demonstrate how Hac40 and c40 may mitigate the harmful effects of S. aureus EVs. Further investigation is needed to elucidate the exact mechanisms underlying this interaction and explore the potential clinical utility of c40 and its mucopolysaccharide carrier conjugate HAc40 in managing atopic dermatitis.

Skin appendage abnormalities in hypothyroidism: understanding and management

Introduction and purpose Thyroid ailments are frequently encountered in medical practice, often intertwined with a variety of conditions that may or may not share common underlying factors. Among the organs profoundly influenced by these disorders is the skin, which manifests a diverse array of clinical presentations. However, the exact changes in the structure of skin appendages have not been well studied. Changes in hair structure or nail findings may be helpful in early diagnosis of thyroid disorders and therefore are important for dermatologist education. Hair loss can be a very uncomfortable and embarrassing ailment. Many diseases, nutritional deficiencies, stress and other factors can affect the hair condition and even induce its falling out. This review seeks to explore the numerous skin disorders arising directly or indirectly from thyroid irregularities, offering an updated understanding of the interplay between thyroid function and skin health. State of Knowledge It is well-established in scientific literature that thyroid gland disorders, particularly hypothyroidism, induce metabolic deceleration, influencing the inadequate nourishment of skin appendages, resulting in skin dryness and fragility. Patients commonly report pallor, cold intolerance, and deteriorating hair and nail quality. Conclusion We noticed strong correlation between hair loss and the autoimmune process during the dysfunction of thyroid. Euthyroidism plays an important role in hair cycle and any changes can disturb its proper development. In Hashimoto disease elevated levels of antibodies negatively influence hair cycle by excessively inducing telogen phase. Moreover, the blood vessels of the skin constrict disrupting the blood flow which affects hair follicles.

Investigating the Genetic Cause of Ichthyosis Disease in a Family with Exome Sequencing

Background: Ichthyosis is a diverse skin disease characterized by dry skin and itching, particularly affecting the hands. Most forms of this condition are hereditary. Objectives: In this study, we investigated potential new mutations associated with this disease using the new technique of whole-exome sequencing. Methods: In this study, after collecting the patient's blood sample in an EDTA tube and extracting DNA using the salting-out method, next-generation sequencing was performed using the WES method. Following the analysis of the results and identification of the candidate gene, PCR technique and Chromas software were used to confirm the findings. Results: The results indicated the presence of a new variant, NM_001099287: Exon 6:c.C1083A: p.Y361X, in the NIPAL4 gene in a heterozygous form in the parents and a homozygous form in the patient. This variant occurred as a nucleotide substitution in the exon 6 region of the NIPAL4 mRNA sequence. Conclusions: Using the WES technique, it is possible to investigate the presence of new variants related to ichthyosis in a short time and at a low cost.

Ayurvedic Management of Palmo-Plantar Psoriasis(~Ek kushta) : A Case Report

Psoriasis is a chronic variant of Psoriasis that characterstically affects the skin of the palms and soles and produces significant functional disability. It features hyperkeratotic, pustular skin lesions. Palmoplantar Pustulosis is a possibly related to dermatosis characterized by small sterile pustules that may be a type of Palmoplantar Psoriasis. As such they are associated with substantial impairment in quality of life. The exact cause of Palmoplantar Psoriasis is unkown. However, it is caused by a combination of genetic and enviornmental factors. In the present case study, female of age 40yrs visit in Ayurveda OPD had complaint of severe itching, redness and pain in skin lesions, transient white, brown, or red macule, localized at bilateral sole region and palm region since 2yrs. She had associated complaint of loss of appetite, headache, dizziness, disturbed sleep and irregular bowel evacuation since 2yrs. She took allopathic treatment but does’nt get any improvement so she decided to switch on Ayurveda management for better cure and preventive care. On the basis of clinical presentation patient was diagnosed with Vicharchika, type of Kushtha Roga so the line of management is based on Kushtha Chikitsa. After 2months of drug intervention Panchtikt Ghrita 10ml, OD in morning, in combination with Mahakalyanak Ghrita in dose of 5ml HS(at bed time) and Cap.Stresscom 2tab at night, patient get significant relief in symptoms ie. dryness and peeling of skin, pain and bleeding with severe itching. Size of lesions is reduced. This is effective in reducing the progression of disease and improve quality of life of patient.

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature

BackgroundHypohidrotic ectodermal dysplasia (HED) is a genetic disorder that results in the abnormal development of structures derived from ectodermal tissue. This rare condition predominantly affects the hair, nails, eccrine glands, and teeth. While HED can be caused by various genes, the EDA, EDAR, EDARADD, and WNT10A genes account for approximately 90% of cases. Notably, HED forms associated with variants in the EDA, EDAR, or EDARADD genes may exhibit similar phenotypes due to defects in a common signaling pathway. Proper interaction among the products of these genes is crucial for the activation of the nuclear factor (NF-κB) signaling pathway, which subsequently regulates the transcription of targeted genes. The EDARADD gene, in particular, harbors one of the rarest reported variants associated with HED.Case presentationFive-and two-years-old brothers born into consanguineous parents were examined at our outpatient medical genetics clinic at Sanliurfa Training and Research Hospital, Turkey. Both displayed the same classical phenotypic features of HED. The elder had a very sparse dark and brittle hair, sparse eyebrows and eyelashes, conical upper and lower premolar teeth with hypodontia, widely spaced teeth, very dry skin, mildly prominent forehead, and periorbital wrinkles. The younger one showed the same, but less severe, clinical features. After thorough examination and patient history evaluation, targeted next-generation sequencing analysis yielded the novel homozygous insertion variant c.322_323insCGGGC p.(Arg108ProfsTer7) in EDARADD. The mutation has not been reported to date in the literature.ConclusionsIn this report, we present two siblings exhibiting classical HED symptoms and a novel insertion variant of the EDARADD gene, which leads to a frameshift introducing a stop codon. Both brothers inherited such mutation from their parents, who were heterozygous carriers of the same variant. The present study may shed light about the pathogenic mechanisms underlying HED, and expand the spectrum of EDARADD gene variants associated with this condition.