FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation
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چکیده
منابع مشابه
[Eczema herpeticum in a patient with atopic dermatitis, carrying r501x and 2282del4 filaggrin null mutations].
Eczema herpeticum is an acute dermatoses caused by herpes simplex virus type 1 in atopic dermatitis patients, and is considered a dermatology emergency. Eczema herpeticum occurs in less than 3% of atopic patients. We report a patient with a history of atopic dermatitis who presented to an emergency department with eczema herpeticum. He was admitted and treated with antiviral medications with go...
متن کاملFilaggrin mutations and the skin.
Filaggrin is very important in the terminal differentiation of the skin and the formation of cornified envelope in the stratum corneum. Several mutations in the filaggrin gene have been identified in the last decade, mostly from the European countries. Loss of function mutations in the filaggrin gene results in reduced production of filaggrin, depending on the type and site of mutation. Such mu...
متن کاملIntragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect
Loss-of-function variants within the filaggrin gene (FLG) increase the risk of atopic dermatitis. FLG also demonstrates intragenic copy number variation (CNV), with alleles encoding 10, 11, or 12 filaggrin monomers; hence, CNV may affect the amount of filaggrin expressed in the epidermis. A total of 876 Irish pediatric atopic dermatitis cases were compared with 928 population controls to test t...
متن کاملFilaggrin null mutations are associated with increased asthma exacerbations in children and young adults.
BACKGROUND Filaggrin (FLG) null mutations are important genetic predisposing factors for atopic asthma and have recently been shown to influence controller and reliever medication needs in asthmatic children. Our objective was to study the role of FLG null alleles in asthma exacerbations. METHODS FLG mutations R501X and 2282del4 were assayed in 1135 individuals ranging from 3 to 22 years old ...
متن کاملFilaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children
BACKGROUND Null mutations within the filaggrin gene (FLG) cause ichthyosis vulgaris and are associated with atopic eczema. However, the dermatological features of filaggrin haploinsufficiency have not been clearly defined. OBJECTIVES This study investigated the genotype-phenotype association between detailed skin phenotype and FLG genotype data in a population-based cohort of children. METH...
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ژورنال
عنوان ژورنال: Journal of the American Academy of Dermatology
سال: 2015
ISSN: 0190-9622
DOI: 10.1016/j.jaad.2015.06.022