Epidermolysis bullosa

Camilla Firing, Anette Bygum

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Abstrakt

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.

Bidragets oversatte titelEpidermolysis bullosa
OriginalsprogDansk
ArtikelnummerV07170568
TidsskriftUgeskrift for Laeger
Vol/bind179
Udgave nummer5
Sider (fra-til)2-5
ISSN0041-5782
StatusUdgivet - 20. nov. 2017

Emneord

  • Epidermolysis Bullosa/classification
  • Genetic Predisposition to Disease
  • Humans
  • Mutation
  • Phenotype

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