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.
Semin Cutan Med Surg 27:128-137 © 2008 Elsevier Inc. All rights reserved.