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In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.

Viral reactivation is rare at the time of DRESS diagnosis in the U.S.

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.

KLHL24-mutant stem cells help understand skin and heart disease.

In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.

In this study, Wang et al. (2022) found that in patients with cutaneous lupus erythematosus, chronic lesions contained more senescent progenitor cells, marked by p16 and p21, than subacute lesions, suggesting a link between disease chronicity and cellular senescence.

This study found that the distribution of desmogleins is associated with specific types of keratinization and hair anchorage, as well as hypotrichosis.

This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.

This study observed that a self-emulsifying drug delivery system for finasteride significantly enhanced bioavailability in rats compared to commercial tablets, but the formulation was found to be thermodynamically unstable.

This study identified novel mutations associated with ectodermal dysplasias in Pakistani families, including a missense mutation in the KRTHB5 gene linked to pure hair-nail ectodermal dysplasias and mutations in the EDAR gene related to hypohidrotic ectodermal dysplasia.

The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.

This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.

In this retrospective cohort study, researchers reported that 11.5% of patients with DRESS developed significant long-term autoimmune or renal sequelae, with age influencing the type of sequelae observed.

The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.

This study suggests that patients with STSD show a different pattern in androgen activation compared to healthy controls, potentially due to increased 5α-reductase activity and absent prepubertal serum DHEA surge.

In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.

This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.

This review discusses therapeutic deep eutectic solvents as promising "green" solutions for enhancing drug solubility and delivery through the skin, reporting no new clinical results and highlighting future research directions.

In this study, Dsc 1 was highly expressed in certain layers of fetal epidermis and hair follicle but not in basal cells or oral mucosa, indicating its potential role in maintaining epithelial integrity.

This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.

This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.

In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.

This study found that individuals with ectodermal dysplasias often have a reduced secretion rate of submandibular saliva and altered protein concentrations, suggesting routine salivary tests may be beneficial in this population.

This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.

This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.

This study reports that the maintenance and morphogenesis of skin appendages rely on both the dose and duration of ectodysplasin signaling.

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 development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.

This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.