September 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Loss of Dsc3 function in the epidermis impaired cell adhesion, leading to blistering and hair loss, which suggests a potential cause of PV-like skin diseases according to this study.
24 citations
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September 2011 in “Autoimmunity” This review discusses the role of natural killer cells in the pathogenesis of blistering diseases and proposes further research on their interaction with the skin, reporting no new clinical results.
7 citations
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April 2004 in “International Journal of Dermatology” This report describes a case of epidermolytic hyperkeratosis in a newborn and her mother, both possessing a specific KRT1 gene mutation known to cause this skin disorder.
1 citations
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September 2022 in “European Journal of Dermatology” This study identified a novel splice-site variant of the LAMB3 gene that may cause junctional epidermolysis bullosa, suggesting gene sequencing is essential for accurate diagnosis.
1 citations
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April 2019 in “Journal of Investigative Dermatology” This study highlights that patients with pemphigus experiencing cutaneous involvement endure pruritus levels approaching those of bullous pemphigoid, impacting their quality of life alongside other autoimmune blistering diseases.