Metabolic cutis laxa syndromes.
Metabolic cutis laxa syndromes.
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DOI：
10.1007/s10545-011-9305-9
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发表时间：
2011-08
影响因子：
4.2
通讯作者：
Morava, Eva
中科院分区：
文献类型：
--
作者：
Mohamed, Miski;Kouwenberg, Dorus;Gardeitchik, Thatjana;Kornak, Uwe;Wevers, Ron A.;Morava, Eva
皮肤松弛症是一种罕见的皮肤疾病，其特征是由于弹性纤维和细胞外基质的其他蛋白质的合成缺陷而导致的皱纹、多余、无弹性和下垂的皮肤。皱纹，无弹性的皮肤发生在许多情况下作为一种后天条件。然而，综合征形式的皮肤松弛症是由不同的遗传缺陷引起的，主要是编码结构性细胞外基质蛋白。令人惊讶的是，许多代谢紊乱也被发现与遗传性皮肤松弛有关。Menkes病是第一个被报道的与看起来老的皱纹皮肤有关的代谢性疾病。皮肤松弛症是近年来发现的糖基化异常的患者。在皱纹、无弹性皮肤患者中发现的COG7缺陷是第一个与先天性糖基化障碍（CDG）有关的遗传联系。从那时起，几个先天性代谢缺陷与皮肤松弛已被描述与变量的严重程度。这些缺陷包括P5CS、ATP6V0A2-CDG和PYCR 1缺陷。尽管皮肤松弛相关疾病的数量不断变化，但很大一部分病例仍然没有解决。在代谢性皮肤松弛综合征中，临床和实验室特征可能部分重叠，但也有一些明显的、可区分的特征。在这篇综述中，我们对代谢性皮肤松弛综合征的鉴别诊断提供了一个实用的方法。
Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibers and other proteins of the extracellular matrix. Wrinkled, inelastic skin occurs in many cases as an acquired condition. Syndromic forms of cutis laxa, however, are caused by diverse genetic defects, mostly coding for structural extracellular matrix proteins. Surprisingly a number of metabolic disorders have been also found to be associated with inherited cutis laxa. Menkes disease was the first metabolic disease reported with old-looking, wrinkled skin. Cutis laxa has recently been found in patients with abnormal glycosylation. The discovery of the COG7 defect in patients with wrinkled, inelastic skin was the first genetic link with the Congenital Disorders of Glycosylation (CDG). Since then several inborn errors of metabolism with cutis laxa have been described with variable severity. These include P5CS, ATP6V0A2-CDG and PYCR1 defects. In spite of the evolving number of cutis laxa-related diseases a large part of the cases remain genetically unsolved. In metabolic cutis laxa syndromes the clinical and laboratory features might partially overlap, however there are some distinct, discriminative features. In this review on metabolic diseases causing cutis laxa we offer a practical approach for the differential diagnosis of metabolic cutis laxa syndromes.
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影响因子：
11.8
作者：
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通讯作者：
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DOI：
10.1016/j.bbadis.2010.06.007
发表时间：
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6.2
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影响因子：
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作者：
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通讯作者：
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影响因子：
3.6
作者：
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