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A.L. Hérissé, A. Charlesworth, N. Bellon, S. Leclerc‐Mercier, E. Bourrat, S. Hadj‐Rabia, C. Bodemer, J.P. Lacour, C. Chiaverini, Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations, British Journal of Dermatology, Volume 184, Issue 5, 1 May 2021, Pages 960–962, https://doi.org/10.1111/bjd.19752
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Funding sources: DEBRA France.
Conflicts of interest: The authors declare they have no conflicts of interest.
Dear Editor, Inherited epidermolysis bullosa (EB) defines a heterogeneous group of genodermatoses characterized by skin and/or mucosa fragility resulting in blistering. The junctional variant (JEB) is associated with mutations affecting the genes expressing the components of the dermo‐epidermal junction (DEJ).1, 2 We report 34 patients with JEB with COL17A1 genetic mutations diagnosed in our centre between 1993 and 2019. Medical and biological records were collected with a standardized questionnaire. For immunofluorescence (IF) analyses of skin biopsies, we used the monoclonal antibody to collagen XVII HD233 (Dr Owaribe, Japan). Genomic DNA was isolated from peripheral blood of patients and their parents; exons of the COL17A1 gene were amplified by polymerase chain reaction (PCR) and sequenced. Messenger RNA was extracted from frozen biopsies and then subjected to reverse transcriptase PCR. The resulting cDNA was PCR amplified with overlapping cDNA‐specific COL17A1 oligos and subsequently sequenced.