Atopic eczema and the filaggrin story

Semin Cutan Med Surg. 2008 Jun;27(2):128-37. doi: 10.1016/j.sder.2008.04.001.

Abstract

The discovery that null mutations in the filaggrin gene (FLG) are associated with atopic eczema represents the single most significant breakthrough in understanding the genetic basis of this complex disorder. The association has been replicated in multiple independent studies during the past 2 years with the use of various methodologies, from populations in Europe, the United States, and Japan. Filaggrin plays a key role in epidermal barrier function, and its association with atopic eczema emphasizes the importance of barrier dysfunction in eczema pathogenesis. This review aims to summarize the current state of knowledge regarding the role of FLG mutations in ichthyosis vulgaris, atopic eczema, and other skin disorders, with an emphasis on potential clinical applications. Further research is needed to clarify the precise role of filaggrin in skin and systemic atopic disease, to pave the way for novel therapeutic interventions.

Publication types

  • Review

MeSH terms

  • DNA / genetics*
  • Dermatitis, Atopic / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Mutation*
  • Phosphoproteins

Substances

  • Intermediate Filament Proteins
  • Phosphoproteins
  • filaggrin
  • DNA