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A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

This review highlights recent advancements in microneedle technology, noting its ability to enhance transdermal drug delivery, biosensing, cancer treatment, and skin disease repair, while emphasizing its potential for improving patient compliance and reducing side effects.

This study presents a rare instance of Netherton syndrome diagnosed incidentally in siblings of consanguineous parents, initially misdiagnosed as other skin conditions, emphasizing the need for careful evaluation in chronic skin cases to prevent misdiagnosis.

This study identified novel mitochondrial DNA variations in PCOS patients from Pakistan, which may serve as genetic predisposition markers, highlighting especially the potential pathogenicity of frameshift mutations in the MT-ND2 gene.

This study highlights the clinical potential of microneedles as an innovative transdermal drug delivery system for treating various skin diseases with minimal pain and high patient compliance.

This phase I study reported that ETC-159, targeting Wnt signalling, showed tolerable safety profiles at doses that inhibit its pathway, though bone turnover markers increased, warranting early and regular monitoring. No tumor responses were observed, but two patients achieved stable disease for several cycles.

This study introduced hydrogel microneedles loaded with palladium nanoparticles, which utilize the inherent cytotoxicity of polyethyleneimine to enhance the effectiveness of doxorubicin in treating melanoma, achieving a tumor inhibition rate of up to 98% in a murine model.

In this study, melatonin implantation altered BMP2 gene expression associated with hair follicle growth in Inner Mongolia Cashmere Goats, particularly reducing expression during the follicles' resting period.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

This study found that the AOPT-MTL mode is an effective and safe treatment option for nasal blackheads in Asians, indicating potential for widespread clinical use.

This study found that microneedle delivery of Polygonum multiflorum extract led to earlier pigmentation and hair regrowth in mice with androgenetic alopecia.

This case report describes the occurrence of a very rare disease, MTPC, in the elbow of a man who does not match the typical etiology, highlighting its academic significance.

This article describes the potential applications of myoblast implantation for muscle regeneration and its promising social and economic value but reports no new clinical results.

The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.

The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.

This study reports that three synthesized PSMA-targeted radioimaging agents demonstrated high affinity and specific localization to prostate cancer tumors in a mouse model, highlighting their potential for cancer detection and monitoring.

This review examines microneedle patches for drug delivery, detailing their designs, materials, manufacturing methods, and potential advantages, but reports no new clinical results.

This review explores the recent developments and diverse applications of microneedles in drug delivery and diagnostic platforms but reports no new clinical results.

This review discusses advancements in the use of microneedle arrays and nanoparticles for transdermal delivery of therapeutics, noting challenges in overcoming the skin barrier and summarizing recent clinical trial achievements in areas like cancer therapy and gene therapy.

This study found that dissolving microneedles loaded with platinum nanozymes induced faster hair growth in an androgenetic alopecia model than daily minoxidil applications, with no significant safety concerns.

This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.

This study found that both CO2 laser combined with topical methotrexate and calcipotriol plus betamethasone treatments improved nail psoriasis similarly, but some symptoms showed no improvement.

Surgeons should know about pilomatricoma for accurate diagnosis, even though it's rare.

This study found that applying topical thymidine dinucleotide (pTT) to newborn mice before UV exposure delayed and reduced melanoma development compared to untreated controls.

In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.

This study found that HRHDT combined with microneedle therapy improved hair growth in a mouse model of alopecia more effectively than microneedle therapy alone.

This pilot study employed in-vivo multiphoton microscopy to visualize pigment-producing melanocytes in vitiligo patients, aiming to enhance understanding of treatment impacts and potentially improve transplantation therapies.

This study reported the development of new pyrazole-based MPC inhibitors that effectively inhibit mitochondrial pyruvate transport, showing potential as therapeutic candidates for conditions like metabolic dysfunction-associated steatohepatitis without activating PPARγ.

In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.

Early diagnosis and treatment of TPP can prevent complications.