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Mutationer i filaggringenet som årsag til ichthyosis vulgaris

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  • Sumangali Chandra Prasad
  • ,
  • Kirsten Rasmussen
  • ,
  • Anette Bygum
  • 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.
Bidragets oversatte titel[Mutations in the gene encoding filaggrin cause ichthyosis vulgaris]
TidsskriftUgeskrift for Laeger
Sider (fra-til)507-508
Antal sider2
StatusUdgivet - 14 feb. 2011


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

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