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

This study found that adult patients with Myotonic Dystrophy type 1 exhibited a higher prevalence of various morphofunctional, inflammatory, and proliferative skin disorders compared to healthy controls.

This study found that culturing fibroblasts on stiffer substrates mimicking fibrotic wounds led to an aligned EDA fibronectin matrix with thinner fibers and decreased YAP activity, suggesting disrupted signaling that might be restored to promote regenerative wound repair.

In this study, targeted deletion of the stearoyl-CoA desaturase 1 gene in mice disrupted the epidermal lipid barrier, leading to increased water loss, impaired thermoregulation, and metabolic issues.

This article discusses the structure and function of the skin's epidermis, detailing its role as a protective barrier and nutrient exchange system, without presenting new research findings.

Keratin mutations cause skin diseases and could lead to new treatments.

This study found that Par3 plays a crucial role in maintaining epidermal homeostasis by regulating Rho/actomyosin contractility and ensuring mitotic accuracy, with potential implications for other self-renewing epithelia.

This review highlights how diabetes affects stem and progenitor cells through altered signaling and homeostasis, impacting tissue function and complicating diabetic therapy efforts; new clinical results are not presented.

This study reports that in systemic sclerosis, CD34+ dermal fibroblasts transition to CD34−, podoplanin+, and CD90+ fibroblasts across the dermis, suggesting a role in unchecked fibrosis.

This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.

In this study using tamoxifen-inducible claudin-1 knockout mice, researchers observed that tight junction barrier leakage induced stratum corneum barrier defects and skin inflammation, suggesting a possible cycle of barrier damage and inflammation in atopic dermatitis.

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

Ceramide Synthase 4 is crucial for healthy skin barrier function.

This review discusses the role of connexin mutations in various human disorders, highlighting their impact on ectodermal epithelial phenotypes like hearing loss and skin abnormalities, but it presents no new clinical findings.

This study synthesizes knowledge of how dendritic cell signals, epithelial integrins, and fibroblast activity converge on TGF-β1 to maintain or disrupt skin healing, contrasting normal and fibrotic scar formation and suggesting possible integrin and immune-targeted treatments for skin fibrosis.

This study found that patients with myotonic dystrophy types 1 and 2 often exhibit skin abnormalities, which correlate with genotype severity and serum vitamin D levels, and suggest premature aging.

This article reviews keratin disorders and highlights recent progress in therapeutic approaches, including a clinical trial for pachyonychia congenita using siRNA, but reports no new clinical findings.

The researchers reported increased ubiquitination of proteins such as the insulin receptor in CYLD cutaneous syndrome skin tumors, suggesting that CYLD dysfunction may affect protein secretion and signaling processes.

This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.

Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.

The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.

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.

In this study, researchers identified three pathogenic de novo genetic variants contributing to epidermolysis bullosa simplex in young children, highlighting the complexity of genetic influences and underscoring the need for early genetic screening for accurate diagnosis and effective management.

This study found that mutant Cx43 impairs fibroblast function during wound healing and reduces hair follicle cell proliferation, likely contributing to hair growth defects in ODDD patients.

This case report describes a newborn diagnosed with dominant dystrophic epidermolysis bullosa due to a COL7A1 mutation, following the presentation of blisters that healed without further complications.

This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.

This study describes a case of epidermolysis bullosa simplex where maternal somatic and germline mosaicism was identified, highlighting the significance for genetic counseling in sporadic cases.

This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.

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.

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.