Late-onset Epidermolysis Bullosa Simplex-Ogna in a Chinese Patient

This report describes the first documented case of epidermolysis bullosa simplex-Ogna in a Chinese patient, characterized by an unusually late onset in the fourth decade of life and generalized skin lesions. Whole-exome sequencing identified the canonical PLEC c.5917C>T (p.Arg1973Trp) mutation, confirmed by Sanger sequencing, with immunofluorescence mapping revealing discontinuous plectin expression along the dermal-epidermal junction. This case expands the phenotypic spectrum of EBS-Ogna and underscores the importance of considering genetic testing in adults presenting with unexplained blistering disorders, even in the absence of family history.