Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.
Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, London, UK.
Br J Dermatol. 2023 May 24;188(6):785-792. doi: 10.1093/bjd/ljad036.
Hyperlinear palms are described as a feature of loss-of-function (LoF) variants in filaggrin (FLG).
To explore the phenotype of participants (age < 31 years) with atopic eczema of Bangladeshi ancestry from East London and investigate which factors best associate with LoF FLG variants.
A 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 LoF FLG variants.
There 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 LoF FLG variants [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).
This 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 LoF FLG variants, respectively.
过度线性手掌被描述为丝聚蛋白（FLG）失活（LoF）变异的特征。
探索来自伦敦东部的孟加拉裔特应性皮炎参与者（年龄<31 岁）的表型，并调查哪些因素与 LoF FLG 变体关联最佳。
这是一项在 2018 年 5 月至 2020 年 12 月期间招募参与者的横断面研究。使用 Eczema Area and Severity Index（EASI）、经表皮水分流失（TEWL）、皮肤水分（SH）和 LoF FLG 变体对掌线性模式进行分类和建模。
共有 506 例完整病例可供分析。注意到 5 种掌纹模式。“明显菱形”模式与 EASI 关联最佳[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）。使用 5 种掌纹模式具有一定的区分 LoF FLG 变体的能力[受试者工作特征（ROC）曲线下面积（AUROC）76.32%，95%CI 71.91-80.73%]，加入 SH 后提高至 77.99%（73.70-82.28%）。仅对精细垂直/明显菱形图案进行亚组分析时，AUROC 为 89.11%（95%CI 84.02-94.19%）。
这是一项单中心研究设计，使用人类对临床模式进行分类。尽管使用了气候控制室，但 TEWL 和 SH 测量的温度和湿度稳定性无法保证。掌纹模式与 EASI 和 TEWL 相关。精细垂直/明显菱形图案分别是检测 LoF FLG 变体缺失/存在的标志物。
