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Article

Dominant pretibial dystrophic epidermolysis bullosa in an Italian family.

Pediatric dermatology - 1 Nov 2020

Vaccaro Mario, Guarneri Claudio, Guarneri Fabrizio, Lentini Maria, Cannavò Serafinella P

Abstract excerpt

We describe a case of pretibial dystrophic epidermolysis bullosa in a 5-year-old girl, her mother, and maternal great aunt. All subjects had trauma-induced blisters and erosions, with scarring, on the knees and lower legs, and nail dystrophy of variable severity. Genetic analysis in all three patients showed a 6849del18 mutation in the COL7A1 gene, causing the production of shortened collagen VII polypeptides and...

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PMID: 32840914
DOI: 10.1111/pde.14331

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