Portaleone D, Taroni F, Micheli S, Moioli M, Pedrazzini A, Cognizzoli P, Carnelli V
Seconda Clinica Pediatrica G. e D. De Marchi, Università degli Studi di Milano, Milano, Italy.
Minerva Pediatr. 2007 Jun;59(3):255-65.
Incontinentia Pigmenti (IP) is an X-linked dominant disorder of skin with neurologic and ophthalmologic involvement. IP predominantly affects females because the mutations are usually lethal in males in utero. IP is characterized by abnormalities of neuroectodermal tissues. IP is caused by mutations in a gene called NEMO, which is required to activate the NF-kB pathway. We present a diagnostic protocol for IP and a meta-analysis of the clinical spectrum of IP in 82 patients cited by MEDLINE in the European literature from 2000 to 2006.
色素失禁症(IP)是一种X连锁显性皮肤病,伴有神经和眼科受累。IP主要影响女性,因为这些突变在男性子宫内通常是致死性的。IP的特征是神经外胚层组织异常。IP由一种名为NEMO的基因突变引起,该基因是激活NF-κB途径所必需的。我们提出了一种IP的诊断方案,并对2000年至2006年欧洲文献中MEDLINE引用的82例IP临床谱进行了荟萃分析。