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Dominant pretibial dystrophic epidermolysis bullosa in an Italian family
Author(s) -
Vaccaro Mario,
Guarneri Claudio,
Guarneri Fabrizio,
Lentini Maria,
Cannavò Serafinella P.
Publication year - 2020
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14331
Subject(s) - medicine , dermatology , blisters , aunt , epidermolysis bullosa , nail (fastener) , dystrophy , genodermatosis , pathology , gene , genetics , immunology , materials science , sociology , biology , anthropology , metallurgy
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 resulting in a mild phenotype, with localized acral blisters and nail involvement.