Article
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.
The American journal of pathology - 1 May 2011
Gruber Robert, Elias Peter M, Crumrine Debra, Lin Tzu-Kai, Brandner Johanna M, Hachem Jean-Pierre, Presland Richard B, Fleckman Philip, Janecke Andreas R, Sandilands Aileen, McLean W H Irwin, Fritsch Peter O, Mildner Michael, Tschachler Erwin, Schmuth Matthias
Abstract excerpt
Although it is widely accepted that filaggrin (FLG) deficiency contributes to an abnormal barrier function in ichthyosis vulgaris and atopic dermatitis, the pathomechanism of how FLG deficiency provokes a barrier abnormality in humans is unknown. We report here that the presence of FLG mutations in Caucasians predicts dose-dependent alterations in epidermal permeability barrier function. Although FLG is an...
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