Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile

Background Ichthyosis vulgaris (IV) is caused by loss‐of‐function mutations in the profilaggrin (FLG) gene. Filaggrin drives complex interrelated functions, with strategic roles in establishing structural and chemical barrier function, hydration of the skin and maintaining epidermal homeostasis. Dat...

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Published in:Journal of the European Academy of Dermatology and Venereology 2013-12, Vol.27 (12), p.1552-1558
Main Authors: Perusquía-Ortiz, A.M., Oji, V., Sauerland, M.C., Tarinski, T., Zaraeva, I., Seller, N., Metze, D., Aufenvenne, K., Hausser, I., Traupe, H.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Child
Child, Preschool
Cohort Studies
Epidermis - physiopathology
Epidermis - ultrastructure
Female
Humans
Ichthyosis Vulgaris - genetics
Ichthyosis Vulgaris - physiopathology
Intermediate Filament Proteins - genetics
Male
Microscopy, Electron
Middle Aged
Permeability
Young Adult
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Summary:Background Ichthyosis vulgaris (IV) is caused by loss‐of‐function mutations in the profilaggrin (FLG) gene. Filaggrin drives complex interrelated functions, with strategic roles in establishing structural and chemical barrier function, hydration of the skin and maintaining epidermal homeostasis. Data on the effect of FLG mutations on epidermal barrier function in IV are very scarce. Objectives A primary aim of this study was to determine in vivo characteristics of epidermal permeability barrier function such as transepidermal water loss (TEWL), skin hydration and skin surface pH in homozygous or compound heterozygous (FLG−/−) and heterozygous (FLG+/−) subjects with IV. Methods We evaluated a cohort of 15 patients with IV, analysed epidermal ultrastructure and investigated epidermal barrier function by measurement of TEWL, skin surface pH and skin hydration. Mutations were screened by restriction enzyme analysis and/or complete sequencing. Ten patients were homozygous or compound heterozygous (FLG−/−), while five patients were heterozygous (FLG+/−). Twenty healthy individuals served as controls. Results In FLG−/− subjects, a moderate increase of TEWL from 5.41 ± 0.32–7.54 ± 0.90 g/m2h (P 
ISSN:0926-9959
1468-3083
DOI:10.1111/jdv.12079