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Τρίτη 14 Νοεμβρίου 2017

Comments to: Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis

recent paper by Akiyama and coworkers questions one more time about role of FLG in A.D.Since first reports of heterozygous mutations of FLG in A.D. patients (1) replicated in northern European populations (2-3-4) and therefore in other populations worldwide (5), genetic studies of patient with I.V. /intrinsic A.D. of different populations of different ancestry as African American (6), and Ethiopian (7) make clear that haploinsufficiency of other structural proteins of epidermis are pathogenic for this phenotype and confirmed the Elias et al. "Outside-to-Inside and back to outside" hypothesis, previously pointed out by permeability studies of stratum corneum of A.D. patients (8).

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