Incontinentia pigmenti:: A window to the role of NF-κB function
Incontinentia pigmenti:: A window to the role of NF-κB function
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DOI：
10.1016/j.sder.2004.01.005
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发表时间：
2004-06-01
影响因子：
--
通讯作者：
Bruckner, AL
中科院分区：
文献类型：
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作者：
Bruckner, AL
色素性失禁是一种罕见的X连锁显性遗传性皮肤病，主要影响女性。它的特征是一种独特的皮疹，出现在婴儿时期，沿着布拉奇科的路线出现，并经历了四个阶段：炎症、疣、色素沉着和萎缩。该疾病的其他持续发现包括脱发和牙齿异常。在少数病例中，可能会发生严重的眼科和神经改变。核因子-kappaB基本调节物(NEMO)突变导致不能激活核因子-kappaB途径，从而产生IP。在受影响的男性中，核因子-kappaB基本调节剂的有害程度较低的突变会导致少汗性外胚层发育不良并伴有免疫缺陷，这是一种相关但不同的表型。这些最新的发现提供了对核因子-kappaB功能在调节皮肤和其他器官的发育、炎症、免疫和抗凋亡反应中的关键作用的洞察。(C)2004 Elsevier Inc.保留所有权利。
Incontinentia pigmenti is an uncommon X-linked dominant genodermatosis primarily affecting females. Its hallmark is a unique skin eruption that presents in infancy along the lines of Blaschko and evolves through four stages: inflammatory, verrucous, hyperpigmented, and atrophic. Other persistent findings of the disease include alopecia and dental anomalies. In a minority of cases, serious ophthalmologic and neurological alterations may occur. Mutations in the NF-kappaB essential modulator (NEMO) that lead to an inability to activate the NF-kappaB pathway produce IP. Less deleterious mutations in NF-kappaB essential modulator give rise to hypohidrotic ectodermal dysplasia with immune deficiency in affected males, a related but distinct phenotype. These recent discoveries provide insight into the crucial role of NF-kappaB function in regulating the developmental, inflammatory, immune, and anti-apoptotic responses of the skin and other organs. (C) 2004 Elsevier Inc. All rights reserved.