[Mutations in the gene encoding filaggrin cause ichthyosis vulgaris].

  title={[Mutations in the gene encoding filaggrin cause ichthyosis vulgaris].},
  author={Sumangali Chandra Prasad and Kirsten Buch Rasmussen and Anette Bygum},
  journal={Ugeskrift for laeger},
  volume={173 7},
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… CONTINUE READING

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