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This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.

This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.

This study developed a deep learning-based tool to quantify individual hair fibers in mice, revealing distinct hair phenotypes linked to hormonal, genetic, and age-related factors, and suggesting its potential for new diagnostic methods through hair analysis.

This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.

This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.

This study found that serum-free expanded hair follicle mesenchymal stem cells (hfMSCs), derived from hair plucking, significantly improved cartilage repair in a murine model despite minimal engraftment, suggesting their effectiveness through a paracrine mechanism.

This research found that hyaluronic acid increased cell proliferation and type I collagen more effectively than poly-L-lactic acid in both human fibroblast cultures and rat dermis.

This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.

This study investigated genetic and phenotypic characteristics of androgen insensitivity syndrome in individuals with a 46,XY karyotype, documenting a range from complete to partial insensitivity.

This study reported four new cases of NISCH syndrome in a Moroccan family, confirming genetic variability in liver disease severity and suggesting potential benefits from early UDCA therapy.

At a workshop highlighted during the 2025 ESPCR meeting, researchers discussed the challenges and variability in culturing skin-related cells, identifying key factors such as media composition and species differences that affect experimental reproducibility, and emphasized the importance of transparent practices to advance pigment cell research.

This review discusses the diagnostic criteria for polycystic ovary syndrome and reports no new results; the authors propose more robust criteria to address diagnostic variability and measurement uncertainty.

This study suggests that prenatal genetic diagnosis of MELAS syndrome using amniotic cells may not reliably predict fetal outcomes due to phenotypic diversity observed in siblings with similar levels of mutant mtDNA.

This study explored how high glucose concentrations impact mesenchymal stromal cell survival in diabetic environments, highlighting mitochondrial factors as potential targets for enhancing cell viability.

This study found that in patients with nonclassical 21-hydroxylase deficiency, genotypes do not reliably predict the severity of hyperandrogenic symptoms, suggesting other genetic factors may influence the phenotype.

In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.

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 pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.

This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.

A novel mutation in the SLC39A4 gene was identified in an infant with mild, incomplete acrodermatitis enteropathic symptoms, suggesting genetic testing is beneficial even without the full symptom triad.

In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.

This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.

This article reviews cell proteomic footprinting technology and its application in improving the authentication and quality control of cell-based immunotherapeutics, without providing new clinical results.

The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.

This case report describes a male patient with aromatase deficiency, revealing that a c.628G>A mutation can lead to varied clinical features, such as low bone mass and normal metabolic profiles.

This study found that a newly identified gene, mK17n, may explain the lack of nail issues in mK17 null mice by compensating for mK17's function in the nail bed.

This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.

This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.

Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.

In this case report, the authors describe a child and his mother with a heterozygous STING variant linked to SAVI, who exhibited atypical disease courses and varying organ involvement, underlining the diverse clinical manifestations of SAVI.