Vol 10, No 3 (2024)
Case report
Published online: 2024-08-21
A benign form of epidermolysis bullosa pruriginosa with a novel mutation in COL7A1 gene in a Polish family: a case series and literature review
1, 1, 1, 2, 1
DOI: 10.5603/fd.100812
Forum Dermatologicum 2024;10(3):97-100.
Abstract
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.
Keywords: epidermolysis bullosa pruriginosadystrophic epidermolysis bullosagenodermatoses
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