Aarhus University Seal / Aarhus Universitets segl

Kirsten Rasmussen

Mutationer i filaggringenet som årsag til ichthyosis vulgaris

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

  • Klinisk Genetisk Afdeling, Aalborg Sygehus
Ichthyosis vulgaris is a common genetic skin disorder with an estimated prevalence of 1:250 caused by mutations in the gene encoding filaggrin. This disorder manifests itself within the first year of life and is clinically characterized by dry, scaly skin, keratosis pilaris, palmar hyperlinearity and atopic manifestations. Patients with a severe phenotype are homozygous or compound heterozygous for the mutations, whereas heterozygous patients show mild disease, suggesting semidominant inheritance with incomplete penetrance. We present a patient with classic severe ichthyosis vulgaris, atopic eczema and two loss-of-function mutations.
OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind173
Nummer7
Sider (fra-til)507-508
Antal sider2
ISSN0041-5782
StatusUdgivet - 14 feb. 2011

    Forskningsområder

  • Child, Female, Humans, Ichthyosis Vulgaris, Intermediate Filament Proteins, Mutation, Skin

Se relationer på Aarhus Universitet Citationsformater

ID: 36567135