Epidermal differentiation complex yields a secret: mutations in the cornification protein filaggrin underlie ichthyosis vulgaris.
Ichthyosis vulgaris (IV), characterized by mild scaling on limbs and lower abdomen, has an incidence of 1 in 250. Smith, McLean, and colleagues demonstrate that common mutations in filaggrin underlie IV. Filaggrin aggregates keratin intermediate filaments and is cross-linked into the cornified envelope to form the epidermal barrier. These findings reinforce the importance of the epidermal barrier in pathogenesis of skin diseases.
Segre
Julia A
JA
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. jsegre@nhgri.nih.gov
D002454:Cell Differentiation / Q000235:genetics; D000078404:Epidermal Cells; D004817:Epidermis / Q000473:pathology*; D000091344:Filaggrin Proteins; D006579:Heterozygote; D006801:Humans; D016112:Ichthyosis Vulgaris / Q000235:genetics* / Q000473:pathology*; D007381:Intermediate Filament Proteins / Q000235:genetics*; D009154:Mutation
C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins