婴儿早期丝状聚合蛋白突变与皮肤屏障和特应性皮炎的关系

Filaggrin mutations in relation to skin barrier and atopic dermatitis in early infancy.

作者信息

Hoyer A, Rehbinder E M, Färdig M, Asad S, Lødrup Carlsen K C, Endre K M A, Granum B, Haugen G, Hedlin G, Monceyron Jonassen C, Katayama S, Konradsen J R, Landrø L, LeBlanc M, Olsson Mägi C A, Rudi K, Skjerven H O, Staff A C, Vettukattil R, Bradley M, Nordlund B, Söderhäll C

机构信息

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

出版信息

Br J Dermatol. 2022 Mar;186(3):544-552. doi: 10.1111/bjd.20831. Epub 2021 Dec 22.

DOI:10.1111/bjd.20831

PMID:34698386

Abstract

BACKGROUND

Loss-of-function mutations in the skin barrier gene filaggrin (FLG) increase the risk of atopic dermatitis (AD), but their role in skin barrier function, dry skin and eczema in infancy is unclear.

OBJECTIVES

To determine the role of FLG mutations in impaired skin barrier function, dry skin, eczema and AD at 3 months of age and throughout infancy.

METHODS

FLG mutations were analysed in 1836 infants in the Scandinavian population-based PreventADALL study. Transepidermal water loss (TEWL), dry skin, eczema and AD were assessed at 3, 6 and 12 months of age.

RESULTS

FLG mutations were observed in 166 (9%) infants. At 3 months, carrying FLG mutations was not associated with impaired skin barrier function (TEWL > 11·3 g m h ) or dry skin, but was associated with eczema [odds ratio (OR) 2·89, 95% confidence interval (CI) 1·95-4·28; P < 0·001]. At 6 months, mutation carriers had significantly higher TEWL than nonmutation carriers [mean 9·68 (95% CI 8·69-10·68) vs. 8·24 (95% CI 7·97-8·15), P < 0·01], and at 3 and 6 months mutation carriers had an increased risk of dry skin on the trunk (OR 1·87, 95% CI 1·25-2·80; P = 0·002 and OR 2·44, 95% CI 1·51-3·95; P < 0·001) or extensor limb surfaces (OR 1·52, 95% CI 1·04-2·22; P = 0·028 and OR 1·74, 95% CI 1·17-2·57; P = 0·005). FLG mutations were associated with eczema and AD in infancy.

CONCLUSIONS

FLG mutations were not associated with impaired skin barrier function or dry skin in general at 3 months of age, but increased the risk for eczema, and for dry skin on the trunk and extensor limb surfaces at 3 and 6 months.

摘要

背景

皮肤屏障基因丝聚合蛋白（FLG）的功能丧失突变会增加患特应性皮炎（AD）的风险，但其在婴儿期皮肤屏障功能、干性皮肤和湿疹中的作用尚不清楚。

目的

确定FLG突变在3个月大及整个婴儿期皮肤屏障功能受损、干性皮肤、湿疹和AD中的作用。

方法

在基于斯堪的纳维亚人群的PreventADALL研究中，对1836名婴儿的FLG突变进行了分析。在3、6和12个月大时评估经表皮水分流失（TEWL）、干性皮肤、湿疹和AD情况。

结果

在166名（9%）婴儿中观察到FLG突变。在3个月时，携带FLG突变与皮肤屏障功能受损（TEWL>11.3g m² h）或干性皮肤无关，但与湿疹相关[比值比（OR）2.89，95%置信区间（CI）1.95 - 4.28；P<0.001]。在6个月时，突变携带者的TEWL显著高于非突变携带者[平均值9.68（95%CI 8.69 - 10.68）对8.24（95%CI 7.97 - 8.15），P<0.01]，并且在3个月和6个月时，突变携带者躯干干性皮肤风险增加（OR 1.87，95%CI 1.25 - 2.80；P = 0.002和OR 2.44，95%CI 1.51 - 3.95；P<0.001）或四肢伸侧皮肤风险增加（OR 1.52，95%CI 1.04 - 2.22；P = 0.028和OR 1.74，95%CI 1.17 - 2.57；P = 0.005）。FLG突变与婴儿期湿疹和AD相关。