Filaggrin mutations in relation to skin barrier and atopic dermatitis in early infancy

BACKGROUND Loss-of-function mutations in the skin barrier gene filaggrin (FLG) increase the risk of atopic dermatitis (AD), but their role in skin barrier function, dry skin and eczema in infancy is unclear. OBJECTIVES To determine the role of FLG mutations for impaired skin barrier function, dry skin, eczema and AD at three months of age and through infancy. METHODS FLG mutations were analyzed in 1836 infants in the Scandinavian population-based PreventADALL study. Transepidermal water loss (TEWL), dry skin, eczema and AD were assessed at three, six and 12 months of age. RESULTS Filaggrin mutations were observed in 166 (9%) infants. At three months, carrying FLG mutations was not associated with impaired skin barrier function (TEWL > 11.3 g/m2 /h) or dry skin, but with eczema (OR(95%CI): 2.76 (1.81, 4.23), p < 0.001). At six months, mutation carriers had significantly higher TEWL than non-mutation carriers (mean (95%CI) 9.68 (8.69, 10.68) vs. 8.24 (7.97, 8.15), p < 0.01) and at three and six months an increased risk of dry skin on truncus (OR: 1.87 (1.25, 2.80), p = 0.002; 2.44 (1.51, 3.95), p < 0.001) or extensor limb surfaces (1.52 (1.04, 2.22), p = 0.028; 1.74 (1.17, 2.57), p = 0.005). FLG mutations were associated with eczema and AD in infancy. CONCLUSION Filaggrin mutations were not associated with impaired skin barrier function or dry skin in general at three months of age, but increased the risk for eczema, as well as for dry skin on truncus and extensors at three and six months.