1.
Ugeskr Laeger
; 179(47)2017 Nov 20.
Article
in Danish
| MEDLINE
| ID: mdl-29208193
ABSTRACT
Epidermolysis bullosa (EB) is a rare genodermatosis. A new classification system is presented, distinguishing the subtypes of EB, and this system is based on the phenotype, mode of inheritance, ultrastructure, immunofluorescence findings, and specific mutation(s) present. EB is inherited in an autosomal dominant or -recessive fashion. Clinical manifestations vary in severity and character according to subtype. The severity ranges from mild localized to life-threatening. Available treatment is mainly symptomatic with therapeutic treatment in an experimental stage.