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患有角蛋白丝聚合蛋白功能丧失突变个体的手部健康与疾病:对手部湿疹表型的临床思考。

The hands in health and disease of individuals with filaggrin loss-of-function mutations: clinical reflections on the hand eczema phenotype.

机构信息

Department of Dermato-Allergology, Copenhagen University Hospital Gentofte, 2900 Hellerup, Denmark.

出版信息

Contact Dermatitis. 2012 Sep;67(3):119-24. doi: 10.1111/j.1600-0536.2012.02130.x.

DOI:10.1111/j.1600-0536.2012.02130.x
PMID:22897780
Abstract

During the last 2 years, we have performed filaggrin genotyping in patients with eczema seen in our hand eczema clinic. We present pictures of healthy and diseased hands from individuals with filaggrin gene (FLG) mutations to describe a clinical entity of hand eczema. We show that xerosis and hyperkeratosis on the dorsal aspects of the hands and fingers, as well as palmar hyperlinearity, should alert the clinician about a possible inherited barrier abnormality of the skin resulting from FLG mutations. The series of photographs range from the hands of an individual with FLG mutations but no history of eczema, to the hands of individuals with typical and atypical filaggrin hand eczema, and finally to the hands of an individual with FLG mutations and hand eczema caused by exposure to irritants and allergens. We briefly discuss this possible subtype of hand eczema, present pathomechanisms, and indicate the signs that should alert the clinicians about a possible inherited skin barrier defect.

摘要

在过去的 2 年中,我们对手部湿疹诊所就诊的湿疹患者进行了丝聚蛋白基因分型。我们展示了带有丝聚蛋白基因突变个体的健康和患病手部的图片,以描述手部湿疹的一种临床实体。我们表明,手部和手指背侧的干燥和过度角化,以及掌部的过度线性,应该提醒临床医生注意可能由于 FLG 突变导致的皮肤遗传屏障异常。这一系列照片的范围从没有湿疹病史但带有 FLG 突变的个体的手部,到具有典型和非典型丝聚蛋白手部湿疹的个体的手部,最后到因接触刺激物和变应原而导致 FLG 突变和手部湿疹的个体的手部。我们简要讨论了这种可能的手部湿疹亚型,提出了发病机制,并指出了应该提醒临床医生注意可能存在遗传皮肤屏障缺陷的迹象。

相似文献

1
The hands in health and disease of individuals with filaggrin loss-of-function mutations: clinical reflections on the hand eczema phenotype.患有角蛋白丝聚合蛋白功能丧失突变个体的手部健康与疾病:对手部湿疹表型的临床思考。
Contact Dermatitis. 2012 Sep;67(3):119-24. doi: 10.1111/j.1600-0536.2012.02130.x.
2
Carriers of filaggrin gene (FLG) mutations avoid professional exposure to irritants in adulthood.FLG 基因突变携带者在成年后避免职业性接触刺激物。
Contact Dermatitis. 2013 Dec;69(6):355-62. doi: 10.1111/cod.12097. Epub 2013 Jun 28.
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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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4
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 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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Filaggrin mutations may confer susceptibility to chronic hand eczema characterized by combined allergic and irritant contact dermatitis.丝聚合蛋白突变可能导致慢性手部湿疹易感性,其特征为联合过敏性和刺激性接触性皮炎。
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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 is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children.丝聚蛋白缺陷型是高外显率的,并与特应性皮炎严重程度增加有关:对 792 名在校儿童进行的前瞻性流行病学研究中皮肤表型的进一步描述。
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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
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Filaggrin null mutations and association with contact allergy and allergic contact dermatitis: results from a tertiary dermatology clinic.丝聚合蛋白基因突变与接触过敏和过敏性接触性皮炎的关联:来自一家三级皮肤科诊所的结果。
Contact Dermatitis. 2010 Aug;63(2):89-95. doi: 10.1111/j.1600-0536.2010.01748.x.

引用本文的文献

1
Prevalence, severity and predictors of hand eczema in patients treated for atopic dermatitis: a cross-sectional observational study.特应性皮炎患者手部湿疹的患病率、严重程度及预测因素:一项横断面观察性研究。
Arch Dermatol Res. 2025 Mar 29;317(1):652. doi: 10.1007/s00403-025-04138-6.
2
Interventions for hand eczema.手部湿疹的干预措施。
Cochrane Database Syst Rev. 2019 Apr 26;4(4):CD004055. doi: 10.1002/14651858.CD004055.pub2.