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This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.

This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.

This study reports that a novel programmable device delivering VEGF through miniaturized needles significantly improved healing outcomes in diabetic mice's chronic wounds compared to traditional topical treatments.

This report describes the first known case of Kaposi's varicelliform eruption occurring after a follicular unit extraction procedure, possibly linked to surgical trauma and post-surgical steroid use.

This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.

This study reviewed Woodhouse-Sakati syndrome and found it consistently associated with hypogonadism, decreased IGF1, and frontotemporal alopecia, with additional symptoms like intellectual disabilities and diabetes in some patients.

This case report describes a probable hypersensitivity reaction to a single intravenous dose of ondansetron, highlighting the need for cautious use, especially in outpatient settings.

USB videodermatoscopes are a practical and affordable alternative for diagnosing skin conditions.

This report describes a unique anatomical case featuring a detailed formation of a periaortic venous ring in an organic sample.

This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.

In this case report, researchers described a two-year-old girl with Vitamin D dependent rickets Type II, noting elevated 1,25-dihydroxyvitamin D3 and alopecia, and observed limited treatment response likely due to poor compliance.

This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.

In this study, researchers highlighted that in sarcoidosis, macrophages in granulomas can produce vitamin D, potentially leading to calcium imbalances, where vitamin D supplementation may cause hypercalcemia, necessitating careful laboratory assessment before supplementation.

This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.

This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.

This overview describes the Dermatologic Surgery journal's comprehensive focus on cosmetic and reconstructive skin procedures, but it reports no new research findings.

This case report describes a 34-year-old woman with pituitary stalk interruption syndrome, highlighting the need for long-term follow-up due to potential progression from isolated hormonal deficiencies to pan-hypopituitarism.

This article offers HTML content and a downloadable PDF but does not provide an abstract or new findings for summary.

This case study highlights a pediatric instance of eruptive vellus hair cysts partially responding to calcipotriene cream, aiming to remind clinicians about this often overlooked condition.

In this study, extracellular vesicles derived from amniotic fluid stem cells enhanced fetal lung development in models of pulmonary hypoplasia, showing promise for therapeutic application.

Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.

This study established a murine chronic graft-versus-host disease model with scleroderma features, showing typical skin changes and cellular infiltrates associated with the condition.

This case report describes an 8-year-old child with Down's syndrome who presented with eruptive syringomas on the face and hand.

This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.

This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.

This study found that extracellular vesicles derived from mesenchymal stem cells and umbilical cord blood plasma enhanced wound healing and reduced scar formation in mice, suggesting their potential as therapeutic agents for skin repair.

This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.

This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.

This case report describes a 47-year-old woman with dilated cardiomyopathy as the first sign of primary antiphospholipid syndrome, highlighting the need for APS screening in similar patient presentations.

This paper suggests intralesional cidofovir as a potentially effective treatment for SCC with no systemic toxicity observed, but surgical excision remains the standard for its curative outcomes and thorough evaluation.