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特应性手部湿疹的分类与丝聚合蛋白突变

Classification of atopic hand eczema and the filaggrin mutations.

作者信息

Giwercman Charlotte, Lerbaek Anne, Bisgaard Hans, Menné Torkil

机构信息

Department of Dermatology, Copenhagen University Hospital Gentofte, DK-2900 Hellerup, Denmark.

出版信息

Contact Dermatitis. 2008 Nov;59(5):257-60. doi: 10.1111/j.1600-0536.2008.01426.x.

DOI:10.1111/j.1600-0536.2008.01426.x
PMID:18976374
Abstract

Hand eczema is a common disease with various risk factors of which atopic dermatitis is known to be one of the most important. Recently, two mutations in the gene coding for filaggrin, a protein important for the skin barrier, have repeatedly been shown to be associated with atopic dermatitis. Moreover, one study point towards an association between the filaggrin null alleles and the subgroup of patients having both hand eczema and atopic dermatitis. For the remainder of hand eczema patients, still unknown genetic risk factors exist. We propose that in future, classification of atopic hand eczema should distinguish between patients with and without the filaggrin null alleles and to further differentiate between associations with type I allergy, type IV allergy and exposure to irritants, respectively. Furthermore, we suggest future studies of atopic hand eczema to analyse for the filaggrin mutations. We believe this will increase the possibility of subgrouping this otherwise heterogenic disease and thereby enable a better phenotype-genotype characterization of hand eczema. This could improve the preventive initiatives, secure better information of patients about the prognosis for their disease, and possibly enable targeted treatment.

摘要

手部湿疹是一种常见疾病,有多种风险因素,其中特应性皮炎是最重要的因素之一。最近,编码中间丝相关蛋白的基因发生的两种突变(中间丝相关蛋白是一种对皮肤屏障很重要的蛋白质)已多次被证明与特应性皮炎有关。此外,一项研究表明中间丝相关蛋白无效等位基因与同时患有手部湿疹和特应性皮炎的患者亚组之间存在关联。对于其余手部湿疹患者,仍存在未知的遗传风险因素。我们建议,未来特应性手部湿疹的分类应区分携带和不携带中间丝相关蛋白无效等位基因的患者,并进一步分别区分与I型过敏、IV型过敏和接触刺激物之间的关联。此外,我们建议未来针对特应性手部湿疹的研究分析中间丝相关蛋白的突变情况。我们相信,这将增加对这种原本异质性疾病进行亚组分类的可能性,从而能够更好地对手部湿疹进行表型-基因型特征描述。这可以改进预防措施,为患者提供更好的疾病预后信息,并可能实现针对性治疗。

相似文献

1
Classification of atopic hand eczema and the filaggrin mutations.特应性手部湿疹的分类与丝聚合蛋白突变
Contact Dermatitis. 2008 Nov;59(5):257-60. doi: 10.1111/j.1600-0536.2008.01426.x.
2
Filaggrin null mutations increase the risk and persistence of hand eczema in subjects with atopic dermatitis: results from a general population study.丝聚蛋白基因突变增加特应性皮炎患者手部湿疹的风险和持续性:一项基于普通人群的研究结果。
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3
Filaggrin null alleles are not associated with hand eczema or contact allergy.丝聚合蛋白无效等位基因与手部湿疹或接触性过敏无关。
Br J Dermatol. 2007 Dec;157(6):1199-204. doi: 10.1111/j.1365-2133.2007.08252.x. Epub 2007 Oct 26.
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Filaggrin null-mutations may be associated with a distinct subtype of atopic hand eczema.丝聚合蛋白基因无效突变可能与一种特应性手部湿疹的独特亚型相关。
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Xerosis is associated with atopic dermatitis, hand eczema and contact sensitization independent of filaggrin gene mutations.干燥症与特应性皮炎、手部湿疹和接触致敏有关,与丝聚蛋白基因突变无关。
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Filaggrin loss-of-function mutation R501X and 2282del4 carrier status is associated with fissured skin on the hands: results from a cross-sectional population study.丝聚合蛋白功能丧失突变 R501X 和 2282del4 缺失携带者状态与手部皲裂皮肤有关:一项横断面人群研究的结果。
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Atopic eczema and the filaggrin story.特应性皮炎与丝聚合蛋白的故事。
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Filaggrin mutations and the skin.丝聚合蛋白突变与皮肤。
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Filaggrin haploinsufficiency among patients with dermatitis from a tertiary referral centre: early findings and possible phenotype.来自三级转诊中心的皮炎患者中丝聚合蛋白单倍剂量不足:早期发现及可能的表型
Contact Dermatitis. 2010 Mar;62(3):182-3. doi: 10.1111/j.1600-0536.2009.01687.x.
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Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.丝聚合蛋白功能丧失突变易导致特应性进程中涉及的表型。
J Allergy Clin Immunol. 2006 Oct;118(4):866-71. doi: 10.1016/j.jaci.2006.07.026. Epub 2006 Sep 1.

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