Severe skin inflammation and filaggrin
mutation similarly alter the skin barrier in patients with atopic dermatitis.
skin barrier gene mutation status was determined in all infants.
In addition to the classic predictors of AD development such as family history and urban environment, elevated transepidermal water loss in newborns has been found to be a strong predictor of AD, regardless of filaggrin
(FLG) gene status.
It is now recognized that intrinsic, genetically mediated skin barrier dysfunction, as elucidated with filaggrin
gene mutations, explains tendencies to xerotic skin in early life, manifested by increased transepidermal water loss, lower hydration levels, and a "leakier" epidermis that may increase cutaneous sensitization.
To maintain skin hydration, abundant intracellular filaggrin
proteins are hydrolyzed into amino acids and their deiminated products, collectively referred to as the "natural moisturizing factors" (Gruber et al.
Penatvitin: increases filaggrin
and ceramide levels and leads to deep skin hydration for 72 hours; and
repeat number polymorphism is associated with a dry skin phenotype.
Citrullinated synthetic peptides included those derived from the filaggrin
, EBV nuclear antigen, or IgG sequences; CPs included recombinant rat filaggrin
or mutated human vimentin.
Null mutations in the filaggrin
gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood Barker JNWN, Palmer CAN, Zhao Y, Liao H, Hull PR, Lee SP, Allen MH, Meggitt SJ, Reynolds NJ, Trembath RC, Irwin Mclean WH J Invest Dermatol, 2007, 127, 564-567
Some studies suggest that patients with atopic dermatitis may have increased rates of allergic sensitization, and filaggrin
mutations have been found in patients with atopic dermatitis and in patients with ACD to nickel.
Mutations in FLG gene encoding filaggrin
are a highly significant risk factor for atopic dermatitis.
Studies of the prevalence of atopic dermatitis (AD) have provided insights into associated environmental risk factors, demonstrating the complex interactions between the presence of filaggrin
(FLG) gene defects and environment.