Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation

The study investigated the role of desmocollin 1 (Dsc1) in mice by disrupting the Dsc1 gene, resulting in mice with flaky skin and epidermal barrier defects shortly after birth. The absence of Dsc1 led to fragile epidermis, acantholysis, and localized lesions, which compromised skin barrier function and caused neutrophil accumulation and tissue degradation. Despite rapid wound healing preventing overt lesions initially, by 6 weeks, the mice developed ulcerating lesions similar to chronic dermatitis, accompanied by localized hair loss and hair follicle degeneration. The findings indicated that Dsc1 was crucial for strong adhesion, barrier maintenance, and proper epidermal differentiation, with potential parallels to human blistering diseases.