{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:29:19Z","timestamp":1787502559143,"version":"build-2736575974"},"reference-count":91,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2024,8,31]],"date-time":"2024-08-31T00:00:00Z","timestamp":1725062400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Canada Research Chair in Genomics of Asthma and Allergic Diseases","award":["CRC-2021-00108"],"award-info":[{"award-number":["CRC-2021-00108"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of mechanobullous diseases characterized by non-scarring blisters and erosions on the skin and mucous membranes upon mechanical trauma. The simplex form (EBS) is characterized by recurrent blister formation within the basal layer of the epidermis. It most often results from dominant mutations in the genes coding for keratin (K) 5 or 14 proteins (KRT5 and KRT14). A disruptive mutation in KRT5 or KRT14 will not only structurally impair the cytoskeleton, but it will also activate a cascade of biochemical mechanisms contributing to EBS. Skin lesions are painful and disfiguring and have a significant impact on life quality. Several gene expression studies were accomplished on mouse model and human keratinocytes to define the gene expression signature of EBS. Several key genes associated with EBS were identified as specific immunological mediators, keratins, and cell junction components. These data deepened the understanding of the EBS pathophysiology and revealed important functional biological processes, particularly inflammation. This review emphasizes the three EBS subtypes caused by dominant mutations on either KRT5 or KRT14 (localized, intermediate, and severe). It aims to summarize current knowledge about the EBS expression profiling pattern and predicted molecular mechanisms involved and to outline progress in therapy.<\/jats:p>","DOI":"10.3390\/ijms25179495","type":"journal-article","created":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T09:56:42Z","timestamp":1725357402000},"page":"9495","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives"],"prefix":"10.3390","volume":"25","author":[{"given":"Mbarka","family":"Bchetnia","sequence":"first","affiliation":[{"name":"D\u00e9partement des Sciences Fondamentales, Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi, Saguenay, QC G7H 2B1, Canada"},{"name":"Centre Intersectoriel en Sant\u00e9 Durable, Saguenay, QC G7H 2B1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Powell","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"McCuaig","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Marie","family":"Boucher-Lafleur","sequence":"additional","affiliation":[{"name":"D\u00e9partement des Sciences Fondamentales, Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi, Saguenay, QC G7H 2B1, Canada"},{"name":"Centre Intersectoriel en Sant\u00e9 Durable, Saguenay, QC G7H 2B1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Morin","sequence":"additional","affiliation":[{"name":"Centre Int\u00e9gr\u00e9 Universitaire de Sant\u00e9 et de Services Sociaux du Saguenay-Lac-Saint-Jean, H\u00f4pital Universitaire de Chicoutimi, Saguenay, QC G7H 7K9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Dup\u00e9r\u00e9","sequence":"additional","affiliation":[{"name":"Centre Int\u00e9gr\u00e9 Universitaire de Sant\u00e9 et de Services Sociaux du Saguenay-Lac-Saint-Jean, H\u00f4pital Universitaire de Chicoutimi, Saguenay, QC G7H 7K9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Laprise","sequence":"additional","affiliation":[{"name":"D\u00e9partement des Sciences Fondamentales, Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi, Saguenay, QC G7H 2B1, Canada"},{"name":"Centre Intersectoriel en Sant\u00e9 Durable, Saguenay, QC G7H 2B1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/nrm3175","article-title":"Deconstructing the skin: Cytoarchitectural determinants of epidermal morphogenesis","volume":"12","author":"Simpson","year":"2011","journal-title":"Nat. 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