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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Differential patterns of filaggrin expression in lamellar ichthyosis.

Lamellar ichthyosis (LI) is a rare genetic and congenital disturbance of keratinization that is phenotypically and genotypically heterogeneous. Filaggrin is one of the major components of the stratum corneum situated in the protein matrix and the cornified envelope. In view of the heterogeneity of LI, this study aimed at exploring filaggrin expression in the skin of patients suffering from the disease. Epidermal filaggrin expression was determined using immunohistochemical techniques and Western blot in 12 patients with LI and the findings were compared with those observed in four normal controls and eight patients with ichthyosis vulgaris. With Western blot, six different patterns of filaggrin expression were detected. The patients with similar clinical manifestations showed a similar pattern, as did members of the same family. Overall, higher filaggrin expression in scales correlated with a better prognosis. In patients receiving retinoids no variations in filaggrin expression during treatment were detected. Our results suggest that LI is heterogeneous as regards filaggrin expression. Filaggrin could therefore be used as a prognostic marker as well as being a marker of the basic defect involved in LI.[1]


  1. Differential patterns of filaggrin expression in lamellar ichthyosis. Peña Penabad, C., Pérez Arellano, J.L., Becker, E., Gutierrez de Diego, J., García Salgado, M.J., Valle, F.J., Unamuno Pérez, P. Br. J. Dermatol. (1998) [Pubmed]
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