Clinical features of children with atopic dermatitis according to filaggrin gene variants

Abstract

Background: Filament aggregating protein (Filaggrin) is a skeletal cell component that provides a protective function for the epidermis. Mutations of the filaggrin gene (FLG) cause a loss of filaggrin protein. These mutations are seen in 50% of atopic dermatitis (AD). The aim of the study was to investigate the polymorphisms and mutations of the FLG in Iranian childrenwith AD.Materials and methods: This project was a case-controlled study with 25 children diagnosed with AD as the case group and 25 healthy children as the control group. Demographic data, clinical manifestations, and filaggrin single nucleotide polymorphisms (SNPs) and mutations were recorded. Blood samples were collected for the immunoglobulin E (IgE) assay and complete blood count tests.Results: We found a significant association between the presence of polymorphism (rs66831674) and patients’ age, and polymorphism (rs41267154) and early onset of AD. We found no significant differences between the FLG polymorphisms with respect to the severity of AD, ethnicity, concurrent allergic diseases, eosinophilia, and IgE serum levels.Conclusion: Interestingly, FLG variants (rs66831674 and rs41267154) were associated with age and early onset of AD. However, additional studies are required to confirm these results on a large scale of Iranian population. Moreover, establishing a cohort prospective study is suggested to assess the progression of other atopic disorders based on FLG polymorphisms.

Clinical features and risk factors of IgE-independent aтopic dermatitis in children

“…Атопический дерматит (АтД) представляет собой воспалительное заболевание, характеризующееся хроническим рецидивирующим течением, экзематозными высыпаниями на коже в сочетании с интенсивным зудом. Высокий уровень заболеваемости АтД, особенно в детской популяции, рост числа распространенных, тяжелых, часто рецидивирующих форм, сложность в достижении контроля над симптомами обуславливают актуальность и высокую медико-социальную значимость изучения механизмов развития и факторов риска АтД [1][2][3]. Показатели заболеваемости АтД в г. Москве представлены официальными данными, при этом специальных эпидемиологических исследований по изучению заболеваемости IgE-зависимым и IgE-независимым АтД ранее не проводилось.…”