Novel variant c.7795-1G>A of COL7A1 gene in a 12-month-old female child with recessive dystrophic epidermolysis bullosa treated with dupilumab

JAAD Case Rep. 2024 Jun 9:50:79-81. doi: 10.1016/j.jdcr.2024.06.003. eCollection 2024 Aug.

Authors

Francesca Caroppo^{1

2

3}, Fortunato Cassalia¹, Elisa Milan¹, Anna Belloni Fortina^{2

3}

Affiliations

¹ Dermatology Unit, Department of Medicine, University of Padua, Padua, Italy.
² Department of Women and Children's Health, Pediatric Dermatology Regional Center, University of Padua, Padua, Italy.
³ European Reference Network for Rare Skin Disorders- ERN Skin, Department of Women's and Children's Health, University of Padua, Padua, Italy.

No abstract available

Keywords: DEB; EB; congenital diseases; dystrophic epidermolysis bullosa; epidermolysis bullosa; genetic diseases; mutation; rare skin diseases.

Publication types

Case Reports