title: [Mutations in the gene encoding filaggrin cause ichthyosis vulgaris].
abstract: 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.
authors.affiliation: Hudafdeling I og Allergicentret, Odense Universitetshospital, 5000 Odense, Denmark.
authors.forename: Sumangali Chandra
authors.initials: SC
authors.lastname: Prasad
authors.forename: Kirsten
authors.initials: K
authors.lastname: Rasmussen
authors.forename: Anette
authors.initials: A
authors.lastname: Bygum
mesh_terms: D002648:Child; D005260:Female; D000091344:Filaggrin Proteins; D006801:Humans; D016112:Ichthyosis Vulgaris / Q000235:genetics* / Q000473:pathology; D007381:Intermediate Filament Proteins / Q000235:genetics*; D009154:Mutation; D012867:Skin / Q000473:pathology
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins