Sangsu Bae

Sep 4, 2024 | jamanetwork.com | Ahreum Song |Yonsei College |Sangsu Bae |Sang Lee

In recessive dystrophic epidermolysis bullosa (RDEB), a severe skin fragility disorder caused by loss-of-function alterations in the COL7A1 gene, chronic open wounds often lead to infections, pain, and risk of squamous cell carcinoma.1 Revertant mosaicism (RM), a spontaneous correction of pathogenic alterations in somatic cells, represents tissue for autologous gene therapy.2 We report a case of repair of a large, chronic open wound in a patient with RDEB through autologous punch grafting of...