Exp Dermatol 2018 Apr 20. Epub 2018 Apr 20.
Department of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
Inherited epidermolysis bullosa (EB) is a group of heterogeneous genetic disorders characterized by skin fragility. EB comprises a large spectrum of phenotypes, ranging from severe cutaneous and extracutaneous involvement caused by lack of key adhesion proteins, to mild cutaneous fragility caused by subtle molecular defects. Disease-causing variants in 20 different genes account for the genetic and allelic heterogeneity of EB. Read More