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Diagnostic clues for a diagnosis of REBS-EXPH5 include prominent keratin filament clumping and increased numbers of intracellular vesicles and mitochondria as seen by transmission electron microscopy and the absence of exophilin-5 immunostaining. The identification of truncating EXPH5 variants in exon 6 through genome diagnostics provides confirmation of the diagnosis.<\/jats:p>","DOI":"10.1093\/bjd\/ljaf296","type":"journal-article","created":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T17:53:26Z","timestamp":1753466006000},"page":"1013-1015","source":"Crossref","is-referenced-by-count":0,"title":["Recessive epidermolysis bullosa simplex due to <i>EXPH5<\/i> variants: case series of a rare subtype with multiple faces"],"prefix":"10.1093","volume":"193","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1940-6938","authenticated-orcid":false,"given":"L Agnes","family":"Grutters","sequence":"first","affiliation":[{"name":"University of Groningen, University Medical Center Groningen, UMCG Center of Expertise for Blistering Diseases, Department of Dermatology , Groningen ,","place":["the Netherlands"]},{"name":"University of Groningen, University Medical Center Groningen, UMCG Center of Expertise for Blistering Diseases, 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