Ichthyosis vulgaris: the filaggrin mutation disease.
Ichthyosis vulgaris: the filaggrin mutation disease.
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DOI：
10.1111/bjd.12219
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发表时间：
2013-06
期刊：
影响因子：
--
通讯作者：
Elias PM
中科院分区：
文献类型：
--
作者：
Thyssen JP;Godoy-Gijon E;Elias PM
寻常型鱼鳞病是由聚丝蛋白基因（FLG）的功能缺失突变引起的，临床表现为干燥、鳞屑、毛癣角化病、手掌和足底超线性，与特应性疾病有很强的相关性。根据这篇综述文章中发表的研究，FLG突变在大约7.7%的欧洲人和3.0%的亚洲人中被观察到，但在深肤色人群中似乎并不常见。本文就寻常型鱼鳞病的流行病学、相关疾病及发病机制作一综述。寻常性鱼鳞病不仅具有广泛的临床谱，最近的研究表明，FLG突变的携带者患常见疾病的风险可能普遍改变，甚至超出了特应性疾病的范围。机理研究表明，在聚丝蛋白缺乏的皮肤中，过敏原和化学物质的渗透增加，流行病学研究发现，手湿疹、刺激性接触性皮炎、镍致敏和血清维生素D水平较高。在相关情况下，应告知个人反复或持续暴露于镍或刺激物时患皮炎的风险增加。此外，根据我们目前的知识，患有寻常性鱼鳞病的个体应该防止新生儿接触猫以防止特应性皮炎，并且应该戒烟以预防哮喘。最后，应建议他们不要过度暴露于降低皮肤屏障功能和增加特应性皮炎风险的因素。
Ichthyosis vulgaris is caused by loss-of-function mutations in the filaggrin gene (FLG) and is characterized clinically by xerosis, scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. According to the published studies presented in this review article, FLG mutations are observed in approximately 7.7% of Europeans and 3.0% of Asians, but appear to be infrequent in darker-skinned populations. This clinical review article provides an overview of ichthyosis vulgaris epidemiology, related disorders and pathomechanisms. Not only does ichthyosis vulgaris possess a wide clinical spectrum, recent studies suggest that carriers of FLG mutations may have a generally altered risk of developing common diseases, even beyond atopic disorders. Mechanistic studies have shown increased penetration of allergens and chemicals in filaggrin-deficient skin, and epidemiological studies have found higher levels of hand eczema, irritant contact dermatitis, nickel sensitization and serum vitamin D levels. When relevant, individuals should be informed about an increased risk of developing dermatitis when repeatedly or continuously exposed to nickel or irritants. Moreover, with our current knowledge, individuals with ichthyosis vulgaris should be protected against neonatal exposure to cats to prevent atopic dermatitis and should abstain from smoking to prevent asthma. Finally, they should be advised against excessive exposure to factors that decrease skin barrier functions and increase the risk of atopic dermatitis.
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DOI：
10.1016/j.jaci.2011.01.031
发表时间：
2011-03
期刊：
The Journal of allergy and clinical immunology
影响因子：
--
作者：
Brown SJ;Asai Y;Cordell HJ;Campbell LE;Zhao Y;Liao H;Northstone K;Henderson J;Alizadehfar R;Ben-Shoshan M;Morgan K;Roberts G;Masthoff LJ;Pasmans SG;van den Akker PC;Wijmenga C;Hourihane JO;Palmer CN;Lack G;Clarke A;Hull PR;Irvine AD;McLean WH
通讯作者：
McLean WH
DOI：
10.1159/000321086
发表时间：
2010-01-01
期刊：
ICHTHYOSES: CLINICAL, BIOCHEMICAL, PATHOGENIC AND DIAGNOSTIC ASSESSMENT
影响因子：
--
作者：
Elias, Peter M.;Williams, Mary L.;Schmuth, Matthias
通讯作者：
Schmuth, Matthias
影响因子：
6.5
作者：
Betz, Regina C.;Pforr, Jana;Noethen, Markus M.
通讯作者：
Noethen, Markus M.
影响因子：
3.7
作者：
Rodriguez S;Hall AJ;Granell R;McLean WH;Irvine AD;Palmer CN;Smith GD;Henderson J;Day IN
通讯作者：
Day IN
影响因子：
6.5
作者：
Capon, F;Novelli, G;Dallapiccola, B
通讯作者：
Dallapiccola, B