Incontinentia pigmenti. Four patients with different clinical manifestations

被引：3

作者：

Llano-Rivas, I. ^{[3
]}

Soler-Sanchez, T. ^{[4
]}

Malaga-Dieguez, I. ^{[5
]}

Fernandez-Toral, J. ^{[1
,2
]}

机构：

[1] Univ Oviedo, Unidad Genet HUCA, Area Pediat, Oviedo, Spain

[2] Univ Oviedo, Dept Med, Area Pediat, Oviedo, Spain

[3] Univ Oviedo, Unidad Genet, Oviedo, Spain

[4] Univ Oviedo, Serv Anat Patol, Oviedo, Spain

[5] Univ Oviedo, Serv Neuropediat, Oviedo, Spain

来源：

ANALES DE PEDIATRIA | 2012年 / 76卷 / 03期

关键词：

Incontinentia pigmenti; Neurocutaneous disorder; IKBKG; Variable expressivity; BLOCH-SULZBERGER-SYNDROME; NEMO IKK-GAMMA; MUTATIONS;

D O I：

10.1016/j.anpedi.2011.09.008

中图分类号：

R72 [儿科学];

学科分类号：

100202 [儿科学];

摘要：

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with 3 well established sequential or overlapped states and each with a characteristic differential diagnosis. With PCR + RFLPs, we analyzed the IKBKG gene in 4 patients with different clinical manifestations and characteristic skin biopsy. In all 4 patients the same deletion of exons 4 to 10 was identified. In female patients in whom the dermatological lesions lead to the suspicion of an IP diagnosis, it is important to have the complete, multidisciplinary and molecular analysis of their first level female relatives. This should give us a clear diagnosis, which is the first step to complete genetic counselling. (c) 2010 Asociacion Espanola de Pediatria. Published by Elsevier Espana, S.L. All rights reserved.

引用

页码：156 / 160

页数：5

共 18 条

[1]

López PA, 2006, BOL PEDIATR, V46, P46

[2]

Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-γ) [J].