The latest medical research on Dermatology
The research magnet gathers the latest research from around the web, based on your specialty area. Below you will find a sample of some of the most recent articles from reputable medical journals about dermatology gathered by our medical AI research bot.
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Request AccessExpert Panel Review of Skin and Hair Dermatophytoses in an Era of Antifungal Resistance.
American Journal of Clinical DermatologyDermatophytoses are fungal infections of the skin, hair, and nails that affect approximately 25% of the global population. Occlusive clothing, livi...
Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation.
British Journal of DermatologyInherited hyperpigmented skin disorders comprise a group of entities with considerable clinical and genetic heterogenicity. The genetic basis of a majority of these disorders remains to be elucidated.
This study aimed to identify the underlying gene for an unclarified disorder of autosomal-dominant generalized skin hyperpigmentation with or without glomuvenous malformation.
Whole-exome sequencing was performed in five unrelated families with autosomal-dominant generalized skin hyperpigmentation. Variants were confirmed using Sanger sequencing and a minigene assay was employed to evaluate the splicing alteration. Immunofluorescence and transmission electron microscopy (TEM) were used to determine the quantity of melanocytes and melanosomes in hyperpigmented skin lesions. GLMN knockdown by siRNA assays was performed in human MNT-1 cells to examine melanin concentration and the underlying molecular mechanism.
We identified five variants in GLMN in five unrelated families, including c.995_996insAACA(p.Ser333Thrfs*11), c.632 + 4delA, c.1470_1473dup(p.Thr492fs*12), c.1319G > A(p.Trp440*), and c.1613_1614insTA(Thr540*). The minigene assay confirmed that the c.632 + 4delA mutant resulted in an abolishment of the canonical donor splice site. Although the number of melanocytes remained unchanged in skin lesions as demonstrated by immunofluorescent staining of tyrosinase and premelanosome protein (PMEL), TEM revealed an increased quantity of melanosomes in the skin lesion of a patient. The GLMN-knockdown MNT-1 cells demonstrated a higher melanin concentration, a higher proportion of stage III and IV melanosomes, upregulation of MITF and tyrosinase, and downregulation of phosphorylated p70S6 K, compared to mock-transfected cells.
We found loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation. Our study implicates a potential role of glomulin in human skin melanogenesis, in addition to vascular morphogenesis.
Retrospective comparison of a weight-based dose every 2 weeks with a fixed dose every month: a real-life analysis of nivolumab in the treatment of advanced melanoma.
Melanoma ResearchNivolumab was first authorized at a weight-based dose (WBD) of 3 mg/kg every two weeks (Q2W). Since 2017, a fixed dose (FD) regimen [first 240 mg Q...
Feasibility and efficacy of indocyanine green in monitoring systemic drug leakage during isolated limb perfusion for recurrent melanoma of extremity.
Melanoma ResearchMelanoma is known for its high metastatic potential and aggressive growth. Recurrence is common post-surgery, sometimes leading to unresectable dis...
Vulval dermatoses: A review of referrals to dermatology.
Australasian Journal of DermatologyWe undertook a retrospective observational review of patients referred to a tertiary dermatology department with vulval complaints over 12 months. ...
General practitioner prescription patterns for atopic eczema in children-Are they affected by telemedicine advice?
Australasian Journal of DermatologyTraditionally, patients presenting to primary care with severe eczema would be referred to a dermatology clinic for an in-person specialist appoint...
Dominant dystrophic epidermolysis bullosa is associated with glycolytically active GATA3+ Th2 cells which may contribute to pruritus in lesional skin.
British Journal of DermatologyDominant dystrophic epidermolysis bullosa (DDEB) is characterized by trauma-induced blisters and, in some individuals, intense pruritus. Precisely what causes itch in DDEB and optimal ways to reduce it have not been fully determined.
To characterize DDEB skin transcriptomes to identify therapeutic targets to reduce pruritus in patients.
We evaluated affected and unaffected skin biopsy samples from 6 DDEB subjects (all with the very itchy pruriginosa subtype), and 4 healthy individuals using bulk RNA-seq. Single-cell transcriptomes of affected (n=2) and unaffected (n=1) DDEB and healthy skin (n=2) were obtained. Dupilumab treatment was provided for three patients.
The skin bulk transcriptome showed significant enrichment of Th1/2 and Th17 pathways in affected DDEB skin compared with non-lesional DDEB and healthy skin. Single-cell transcriptomics showed an association of glycolytically active GATA3+ Th2 cells in affected DDEB skin. Treatment with dupilumab in three people with DDEB led to significantly reduced VAS itch scores after 12 weeks (mean VAS=3.83) compared to pre-treatment (mean VAS=7.83). Bulk RNA-seq and qPCR showed that healthy skin and dupilumab-treated epidermolysis bullosa (EB) pruriginosa skin show very similar transcriptomic profiles, and reduced Th1/2 and Th17 pathway enrichment.
Single-cell RNA-seq helps define an enhanced DDEB-associated Th2 profile and rationalizes drug repurposing of anti-Th2 drugs in treating DDEB pruritus.
Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark.
JAMA DermatologyEctodermal dysplasias constitute a group of rare genetic disorders of the skin and skin appendages with hypodontia, hypotrichosis, and hypohidrosis as cardinal features. There is a lack of population-based research into the epidemiology of ectodermal dysplasias.
To establish a validated population-based cohort of patients with ectodermal dysplasia in Denmark and to assess the disease prevalence and patient characteristics.
This nationwide cohort study used individual-level registry data recorded across the Danish universal health care system to identify patients with ectodermal dysplasias from January 1, 1995, to August 25, 2021. A 3-level search of the Danish National Patient Registry and the Danish National Child Odontology Registry was conducted to identify patients with diagnosis codes indicative of ectodermal dysplasias; patients registered in the Danish RAREDIS Database, the Danish Database of Genodermatoses, and local databases were also added. The search results underwent diagnosis validation and review of clinical data using medical records. Of 844 patient records suggestive of ectodermal dysplasias, 791 patients (93.7%) had medical records available for review. Positive predictive values of the diagnosis coding were computed, birth prevalence was estimated, and patient characteristics were identified. Data analysis was performed from May 4 to December 22, 2023.
The identified and validated study cohort included 396 patients (median [IQR] age at diagnosis, 13 [4-30] years, 246 females [62.1%]), of whom 319 had confirmed ectodermal dysplasias and 77 were likely cases. The combined positive predictive value (PPV) for ectodermal dysplasia-specific diagnosis codes was 67.0% (95% CI, 62.7%-71.0%). From 1995 to 2011, the estimated minimum birth prevalence per 100 000 live births was 14.5 (95% CI, 12.2-16.7) for all ectodermal dysplasias and 2.8 (95% CI, 1.8-3.8) for X-linked hypohidrotic ectodermal dysplasias. A molecular genetic diagnosis was available for 241 patients (61%), including EDA (n = 100), IKBKG (n = 55), WNT10A (n = 21), TRPS1 (n = 18), EDAR (n = 10), P63 (n = 9), GJB6 (n = 9), PORCN (n = 7), and other rare genetic variants.
The findings of this nationwide cohort study indicate that the prevalence of ectodermal dysplasias was lower than previously reported. Furthermore, PPVs of the search algorithms emphasized the importance of diagnosis validation. The establishment of a large nationwide cohort of patients with ectodermal dysplasias, including detailed clinical and molecular data, is a unique resource for future research in ectodermal dysplasias.
Expert Recommendations on Use of Topical Therapeutics for Vitiligo in Pediatric, Adolescent, and Young Adult Patients.
JAMA DermatologyEvidence-based recommendations for the treatment of vitiligo in pediatric, adolescent, and young adult patients in the US are needed.
To develop evidence- and consensus-based expert recommendations on the diagnosis and treatment of vitiligo in young patients.
A process was developed to produce consensus recommendations addressing questions regarding pediatric vitiligo. A librarian-conducted literature review was performed using articles that met the inclusion criteria: published in English, containing primary data (including meta-analysis) and pediatric-specific data, and analysis of 6 or more patients. Included articles were graded by the Strength of Recommendation Taxonomy criteria and Oxford Centre for Evidence-based Medicine's Levels of Evidence and Grades of Recommendation. Research questions were reviewed on May 9, 2022, through a video conference. One month after the conference, participants participated in an online survey documenting their level of agreement with the generated statements, using a 5-point Likert scale.
Articles on topical corticosteroids and/or topical calcineurin inhibitors (n = 50), topical Janus kinase inhibitors (n = 5), pseudocatalase (n = 2), and microdermabrasion (n = 2) met inclusion criteria. Forty-two recommendations were made on the diagnosis of vitiligo and optimal topical therapeutics, with 33 recommendations obtaining a 70% or greater composite agreement and strong agreement. Topical calcineurin inhibitors twice daily, topical corticosteroids with time limitation due to atrophy risk, and topical ruxolitinib, 1.5%, cream-used off-label for patients younger than 12 years and limited to nonsegmental vitiligo-were identified as evidence-based first-line therapies in the management of pediatric and adolescent patients, with specific guidance on age-based data, minimum therapeutic trial of 6 months or greater, prolonged therapy to prevent recurrence, and the positive benefit of coordinated use of UV therapeutic sources.
Evidence supports the use of topical calcineurin inhibitors, topical corticosteroids, and topical Janus kinase inhibitors as effective therapeutics for vitiligo in pediatric, adolescent, and young adult patients, with specific decisions on choice of agent based on factors such as site location, body surface area, and age.
Secukinumab in patients with moderate to severe hidradenitis suppurativa based on prior biologic exposure: An efficacy and safety analysis from the SUNSHINE and SUNRISE phase III trials.
British Journal of DermatologySUNSHINE (NCT03713619) and SUNRISE (NCT03713632).
To investigate the efficacy and safety of secukinumab in patients with moderate to severe HS based on prior exposure to biologics.
This was an analysis of the SUNSHINE and SUNRISE phase III trials of secukinumab in patients with moderate to severe HS. Patients were randomized at baseline to receive secukinumab every 2 (SECQ2W) or 4 weeks (SECQ4W), or placebo for 16 weeks. After week 16, patients receiving SECQ2W and SECQ4W remained on the same treatment regimen, while patients randomized to placebo were switched to either SECQ2W or SECQ4W up to week 52. Assessments based on prior exposure to biologics included HS clinical response (HiSCR), abscess and inflammatory nodule (AN) count, flare rates, HS-related pain (numeric rating scale [NRS]) 30], international HS severity scoring system (IHS4), dermatology life quality index, European quality of life five-dimension, and safety.
Overall, 1084 patients were randomized in the SUNSHINE and SUNRISE trials and included in this analysis, with 255 (23.5%) patients being biologic experienced (SECQ2W [N=80]; SECQ4W [N=81]; placebo [N=94]) and 829 (76.5%) being biologic-naïve (SECQ2W [N=281]; SECQ4W [N=279]; placebo [N=269]). At week 16, responses were more efficacious for secukinumab compared with placebo for HiSCR in patients who were biologic-experienced (SECQ2W, 37.0% [odds ratio (OR): 1.60; 95% confidence interval (CI): 0.83, 3.08]; SECQ4W, 38.8% [OR: 1.67; 95% CI: 0.86, 3.22; placebo, 27.3%) and biologic-naive (SECQ2W, 45.6% [OR: 1.64; 95% CI: 1.15, 2.33]; SECQ4W, 45.4% [OR: 1.61; 95% CI: 1.13, 2.29]; placebo, 34.2%). Similar results were observed for AN count, NRS30, and IHS4-55. The higher response seen at week 16 with secukinumab was sustained, with a trend for improvement over time, through week 52 in both subgroups. Additional efficacy was observed for quality-of-life assessments, and no differences in safety between subgroups were observed.
Regardless of prior biologic exposure, secukinumab was efficacious in improving signs and symptoms of HS. This finding positions secukinumab as the first option in patients who are biologic-naïve, as well as in patients who have previously been treated with other biologic therapy, based on individual patient needs.
Genetic causal relationship between gut microbiota and cutaneous melanoma: a two-sample Mendelian randomization study.
Melanoma ResearchCurrently, numerous studies suggest a potential association between the gut microbiota and the progression of melanoma. Hence, our objective was to...
Management of Acne in Pregnancy.
American Journal of Clinical DermatologyAcne is one of the most common dermatological conditions to affect women of childbearing age, so it is important to consider the safety of long-ter...