Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population.
Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population.
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特应性湿疹的深部手掌表型：南亚人群中与丝聚蛋白变异、疾病严重程度和屏障功能相关的模式。
DOI：
10.1093/bjd/ljad036
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发表时间：
2023
期刊：
影响因子：
--
通讯作者：
Thomas BR
中科院分区：
文献类型：
--
作者：
Thomas BR
BackgroundHyperlinear palms被描述为功能丧失（LoF）变体infilaggrin（FLG）的一个特征。ObjectivesTo explore the phenotype of participants（age < 31 years）with atopic eczema of Bangladesh ancestry from东伦敦and investigate which factors best associate with LoFFLG variants.MethodsA cross-sectional study with participants recruited between May 2018 and December 2020. 手掌线性的模式进行了分类和建模与湿疹面积和严重程度指数（EASI），经表皮水分流失（TEWL），皮肤水合作用（SH）和LoFFLGvariants.ResultsThere是506完整的情况下。发现5个手掌图案。“突出菱形”模式与EASI [边际效应（ME）2.53，95%置信区间（CI）1.74-3.67]、SH（ME 0.85，95% CI 0.78-0.96）和TEWL（ME 1.32，95% CI 1.11-1.62）相关性最好。使用五种手掌模式有一定的能力区分LoFFLG变体[受试者操作特征下的面积（AUROC）76.32%，95%CI 71.91-80.73]，添加SH后提高到77.99%（73.70-82.28）。在亚组分析中，只有精细的垂直/突出的菱形图案的AUROC为89.11%（95%CI 84.02-94.19）。尽管使用了气候控制室，但在TEWL和SH测量中无法保证温度和湿度的稳定性。手掌模式与EASI和TEWL相关。精细的垂直/突出的菱形图案分别是检测LoFFLG变体的不存在/存在的标志物。
BackgroundHyperlinear palms are described as a feature of loss-of-function (LoF) variants infilaggrin(FLG).ObjectivesTo explore the phenotype of participants (age < 31 years) with atopic eczema of Bangladeshi ancestry from East London and investigate which factors best associate with LoFFLGvariants.MethodsA cross-sectional study with participants recruited between May 2018 and December 2020. Patterns of palmar linearity were categorized and modelled with the Eczema Area and Severity Index (EASI), transepidermal water loss (TEWL), skin hydration (SH) and LoFFLGvariants.ResultsThere were 506 complete cases available. Five palm patterns were noted. The ‘prominent diamond’ pattern associated best with EASI [marginal effects (ME) 2.53, 95% confidence interval (CI) 1.74–3.67], SH (ME 0.85, 95% CI 0.78–0.96) and TEWL (ME 1.32, 95% CI 1.11–1.62). Using five palm patterns had some ability to discriminate LoFFLGvariants [area under the receiver operator characteristic (AUROC) 76.32%, 95% CI 71.91–80.73], improving to 77.99% (73.70–82.28) with the addition of SH. In subgroup analysis with only fine perpendicular/prominent diamond patterns the AUROC was 89.11% (95% CI 84.02–94.19).ConclusionsThis was a single-centre study design with humans classifying clinical patterns. The stability of temperature and humidity was not guaranteed across TEWL and SH measurements despite using a climate-controlled room. Palm patterns associate with EASI and TEWL. The fine perpendicular/prominent diamond patterns are markers to detect the absence/presence of LoFFLGvariants, respectively.