A benign form of epidermolysis bullosa pruriginosa with a novel mutation in COL7A1 gene in a Polish family: a case series and literature review

Epidermolysis bullosa pruriginosa is an extremely rare form of dystrophic epidermolysis bullosa. Its cause is the underlying mutation, most often in the COL7A1 gene. Based upon a specific type of mutation in a patient (missense, non-sense, frameshift, splice-site mutations), a distinct, specific phenotype can be observed. This study presents a case series of three family members from the Pomerania region in Poland, with a novel missense mutation of p.Val2402Gly/-c.7205T > G in exon 94 of the COL7A1 gene.