一名患有皮肤病变和癫痫发作的女童：色素失禁症病例报告
A Female Child with Skin Lesions and Seizures: Case report of Incontinentia Pigmenti.
作者信息
Al-Zuhaibi Sana, Ganesh Anuradha, Al-Waili Ahmed, Al-Azri Faisal, Javad Hashim, Al-Futaisi Amna
机构信息
Departments of Ophthalmology.
出版信息
Sultan Qaboos Univ Med J. 2009 Aug;9(2):157-61. Epub 2009 Jun 30.
Abstract
Incontinentia Pigmenti (IP), (OMIM # 308300), is a rare X-linked dominant condition. It is a multisystemic disease with neuroectodermal findings involving the skin, eyes, hair, nails, teeth, and central nervous system. It is usually lethal in males; the disease has variable expression in an affected female. We report the case of a 6 month old girl who presented at Sultan Qaboos University Hospital, Oman, with neonatal seizures and hypopigemented/hyperpigmented skin lesions. She had multiple ophthalmic abnormalities and neurological manifestations which are discussed in this report.
摘要
色素失禁症（IP）（OMIM编号#308300）是一种罕见的X连锁显性疾病。它是一种多系统疾病，具有涉及皮肤、眼睛、毛发、指甲、牙齿和中枢神经系统的神经外胚层表现。该疾病在男性中通常是致命的；在受影响的女性中表现多样。我们报告了一名6个月大女孩的病例，她在阿曼苏丹卡布斯大学医院就诊，患有新生儿癫痫和色素减退/色素沉着过度的皮肤病变。她有多种眼科异常和神经学表现，本报告将对此进行讨论。
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Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling.色素失禁症小鼠模型中的皮肤病变发展由表皮角质形成细胞中的NEMO缺陷引发，且需要TNF信号传导。
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Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.对大量原发性免疫缺陷（IP）患者队列中的遗传缺陷进行分子分析，并鉴定干扰核因子-κB（NF-κB）激活的新型核因子-κB必需调节因子（NEMO）突变。
Hum Mol Genet. 2004 Aug 15;13(16):1763-73. doi: 10.1093/hmg/ddh192. Epub 2004 Jun 30.
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Novel corneal features in two males with incontinentia pigmenti.两名色素失禁症男性患者的新型角膜特征。
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