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This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.

This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.

This study found that capped mesoporous silica nanoparticles conjugated with antibodies selectively released a dye when exposed to finasteride, with low detection limits and stable performance even after storage.

This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.

This study tested a folate-conjugate drug delivery system and found its cytotoxicity depends on whether the treated cells overexpress folate receptors, suggesting potential for targeted chemotherapy.

This study demonstrated that CD19-CAR T cell therapy may promote structural regeneration in the skin of systemic sclerosis patients, as evidenced by histological improvements and fibroblast population changes, suggesting its potential for tissue remodeling in fibrotic diseases.

This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.

This study confirms the presence of large structural variations in the genome of Nellore cattle, which may contribute to their environmental adaptation to tropical regions.

This article describes the development and validation of a standardized instrument for measuring skin involvement in cutaneous lupus erythematosus, aiming to aid future clinical research and trials.

This article discusses the potential of intralesional cidofovir for treating SCC without systemic toxicity, noting that surgical excision remains the best treatment option; it reports no new clinical results.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.

This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.

This study found that a new compounded topical solution for alopecia was clinically tolerable and did not cause irritation, while also showing potential to enhance hair growth through fibroblast proliferation and gene expression.

This study developed a simple HPLC method for accurately estimating tamsulosin and finasteride in pharmaceutical forms, demonstrating good precision and potential application in combined dosage analysis.

In this study, researchers found that the compound BMS-470539 induced a senescence-like state in fibroblasts from systemic sclerosis patients, reducing fibrosis-associated markers in vitro and decreasing skin thickness in a mouse model of skin fibrosis, suggesting a novel therapeutic strategy for managing fibroblast-driven diseases.

Patients with cutaneous lupus erythematosus have a higher risk of skin cancer and other cancers.

In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.

The researchers reported a rare case of invasive cutaneous squamous cell carcinoma of the scalp extending into bone and dura mater, successfully treated with surgery and skin flap repair, without metastasis observed at three months.

This study found that synchrotron radiation ECD imaging provides new insights into solid-state Finasteride by highlighting the significant role of anisotropy in local domains for chiroptical measurements.

This study observed that the small molecules KY19382 and KY19334 inhibited cancerous traits in human cutaneous squamous cell carcinoma cells by suppressing the Wnt/β-catenin pathway, indicating their potential as treatments for cancers involving CDK1 overexpression and diseases related to CXXC5 accumulation.

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 inactivating CerS4 in mouse epidermis disrupts lipid homeostasis and is crucial for maintaining, but not forming, the skin barrier.

This case report describes the successful treatment of scedosporiosis-induced cellulitis with voriconazole and intermittent pneumatic compression in a 72-year-old Portuguese woman.

This study established a new reverse-phase high-performance liquid chromatography method to accurately and precisely quantify silodosin and dutasteride in mixtures, meeting International Council of Harmonization validation criteria for stability, sensitivity, and recovery.

In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.

This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.