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Loss-of-function mutations in the filaggrin gene (FLG) have been implicated in moderate-to-severe eczema in older children and adults. In intact skin, filaggrin is an integral component of barrier function, which is commonly measured by transepidermal water loss. In eczema, transepidermal water loss is dramatically increased. However, it has been unclear whether this process is primary or secondary to the disease process.
In a study of 88 infants, one third of whom had mild-to-moderate eczema, Flohr and colleagues found a fourfold increase in susceptibility to eczema by age 3 months in the infants with FLG mutations. Infants carrying these mutations had an increase in transepidermal water loss whether or not they had eczema, suggesting that …