Disorders of the Skin’s Barrier Function in Patients With Atopic Dermatitis With Mutations of the Filaggrin Gene

Abstract

Introduction: The paper presents the results of investigations of the skin’s barrier function in patients diagnosed with atopic dermatitis (AD) with the presence of one of the genetic predispositions, namely the filaggrin gene FLG 2284del4 mutation. The aim: to deepen the study of the relationship between the mutations of the gene FLG del2282 and the morphological features of the skin, since the data on its physiological state in patients diagnosed with AD are contradictory that will contribute to the improvement of the modern basis necessary for the development of treatment-diagnostic and preventive measures. Materials and methods: In the given study of patients diagnosed with AD (41 person), the frequency of the FLG 2282del4 gene deletion constituted 19.51% (8 patients) according to the method of Palmer et al. To determine the functional parameters of the skin in patients diagnosed with AD in the carriers of the FLG gene mutation and in patients void of this mutation, they have applied a multifunctional Aramo TS portable analyzer that enables to carry out dermatoscopic diagnosis of the skin surface. Results and conclusions: As a result of the analysis of the obtained physiological parameters of the skin in the patients of both groups during the treatment process, it is noteworthy that the dynamics of these indices after treatment in patients void of the filaggrin gene mutation is significantly better in comparison with the patients in whom the filaggrin 2282 del14 gene mutation was revealed. There is a tendency towards the decrease of skin’s moisture and elasticity in patients with revealed mutation compared with the ones who are void of it. Given this fact, the study of physiological parameters of the skin is important to consider when substantiating the diagnostic-treatment and prophylactic algorithm for patients diagnosed with AD.

Increased loss‐of‐function filaggrin gene mutation prevalence in atopic dermatitis patients across northern latitudes indicates genetic fitness: A systematic review and meta‐analysis

“…Among all studies that provided prevalence data, the FLG was so far not fully sequenced in exon 3 or the entire FLG in populations originating in Australia, Canada, Chile, Croatia, Denmark, France, Hungary, Mexico, Norway, Poland, Russia, Slovenia, Spain, Switzerland, Tunisia, Turkey and Ukraine (shown in Table S15 and Figure S9). Scandinavian 62–67 distributions of the three most frequent LoF FLG mutation types were similar to Western Europeans 68–79 and Eastern Europeans, 80–90 whereas UK 9,91–97 mutations were distributed similar to Southern Europeans 23,98–105 . A unique mutation was identified on the Asian continent, 106,107 and another mutation is specific to Japan 106 .…”