Corneodesmosin Gene Ablation Induces Lethal Skin-Barrier Disruption and Hair-Follicle Degeneration Related to Desmosome Dysfunction

The study investigated the effects of corneodesmosin (CDSN) gene ablation in mice, revealing that its absence led to severe skin-barrier disruption and hair-follicle degeneration due to desmosome dysfunction. Mice lacking CDSN experienced neonatal death due to skin detachment and barrier defects, highlighting CDSN's role in resisting mechanical stress. Histological analysis showed impaired corneodesmosome functionality, leading to adhesive defects and chronic skin ulceration. Grafted KO skin on nude mice developed sparse hair that disappeared over time, indicating a strong permeability defect. The study concluded that CDSN is crucial for maintaining epidermal integrity and barrier function, with its deficiency resulting in mechanical fragility and hair loss. The findings suggested a potential link between CDSN dysfunction and certain skin conditions, such as psoriasis.