The authors concluded that p.Gly627Val has a dominant negative effect on the collagen XVII protein, causing autosomal dominant JEB in the granddaughter.20 48 As well as providing further evidence of a dominant negative disease mechanism and of overlap between the COL17A1 variants causing JEB and AI, this case illustrates the importance of a multidisciplinary approach to the clinical care of such patients. This evidence concerns the gene COL17A1 and junctional epidermolysis bullosa.