By Jacob P. Thyssen, Howard I. Maibach
Filaggrin gene mutations are universal in Europeans and their descendants, in addition to in Asians, achieving a incidence of as much as 10%. Filaggrin proteins are an important for epidermis homeostasis as their metabolites keep dermis hydration, hold the surface pH low, and supply security opposed to sunlight radiation. FLG mutation companies be afflicted by dry and scaly epidermis and feature an elevated move of allergens and chemical substances around the pores and skin. furthermore, they've got 10% better serum diet D degrees, in all probability affecting the propensity to increase different illnesses. FLG loss-of-function mutations characterize the most powerful danger issue hitherto stumbled on for atopic dermatitis and are significant predisposing elements for similar bronchial asthma and hay fever. This textbook offers entire and specified assurance of the results of FLG mutations in healthiness and disorder (cutaneous and non-cutaneous) and likewise discusses the fundamental technological know-how, epidemiology, administration, and destiny study areas.
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Additional info for Filaggrin: Basic Science, Epidemiology, Clinical Aspects and Management
Sample text
In prostasin knockout mice, two- and three-domain filaggrin intermediates accumulate in the stratum corneum, but no filaggrin monomers, whereas profilaggrin accumulates in the stratum corneum in matriptase knockout mice [23–25]. LEKTI (lymphoepithelial Kazal-type-related inhibitor) is a serine protease inhibitor encoded by the SPINK5 gene. Mutations in this gene in humans are responsible for “Netherton’s syndrome,” in which the skin is very dry with abnormal maturation of the keratinocytes and a defect in skin barrier [26].
Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile. J Eur Acad Dermatol Venereol. 2013;27(12):1552–8. 34. Denda M, Sato J, Tsuchiya T, Elias PM, Feingold KR. Low humidity stimulates epidermal DNA synthesis and amplifies the hyperproliferative response to barrier disruption: implication for seasonal exacerbations of inflammatory dermatoses. J Invest Dermatol. 1998; 111(5):873–8. 35. Ohman H, Vahlquist A.
SC cohesion, which is commonly measured by the amount of protein R. Gruber 16 a b c d Fig. 5 Abnormal extracellular lamellar bilayer organization and delayed maturation in filaggrin-depleted epidermis. (a) Normal lamellar bilayers (arrows), corneodesmosomes (CDs) (double-arrows), and CD-derived lacunae (asterisks) in wild-type controls (wt/wt). (b) Normal numbers of bilayers (arrows), but disruption of membrane arrays by non-lamellar domains (asterisks) in double-allele mutant IV subjects. (c, d) Delayed transformation of secreted lamellar body contents into bilayers above the SG-SC interface (asterisks).