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At least 50% of patients with atopic dermatitis (AD) harbor mutations in the complex gene that regulates filaggrin production. The filaggrin protein collapses the keratin cytoskeleton, producing scaffolding for construction of the optimal stratum corneum barrier. Additionally, filaggrin degrades into the so-called natural moisturizing factor, which is actually a set of amino acids, such as urocanic acid, pyrrolidone carboxylic acid, and alanine. Mutations alter the ability of filaggrin to perform these functions, producing a “leaky” barrier that allows increased transepidermal water loss and encroachment by external irritants.
Identifying a filaggrin mutation in a patient with eczema would be useful to the clinician, not only by pointing to …