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European Journal of Dermatology

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Self-improving dominant dystrophic epidermolysis bullosa: phenotypic variability associated with COL7A1 mutation p.Gly2037Glu Volume 30, issue 6, November-December 2020

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Authors
1 Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
2 Institute of Dermatology, Catholic University and Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
3 Molecular Genetics Laboratory, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
4 Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
5 Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy

Dystrophic epidermolysis bullosa (DEB) is one of the four major types of inherited epidermolysis bullosa, the prototypic skin fragility disorder [1]. DEB is characterized by blister formation below the lamina densa of the cutaneous basement membrane zone (BMZ) and by mutations in the COL7A1 gene, encoding type VII collagen (colVII). DEB is inherited as a dominant or recessive trait and several subtypes are distinguished based on clinical features. A peculiar subtype, self-improving DEB (previously [...]