Systematic review of central nervous system anomalies in incontinentia pigmenti

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Systematic review of central nervous system anomalies in incontinentia pigmenti

The objective of this study was to present a systematic review of the central nervous system (CNS) types of anomalies and to consider the possibility to include CNS anomalies in Incontinentia pigmenti (IP) criteria. The analyzed literature data from 1,393 IP cases were from the period 1993-2012. CNS anomalies were diagnosed for 30.44% of the investigated IP patients. The total number of CNS typ...

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Ocular anomalies in incontinentia pigmenti: literature review and meta-analysis.

INTRODUCTION Incontinentia pigmenti (IP) is an X-linked genodermatosis in which skin changes are combined with dental, eye and central nervous system anomalies. OBJECTIVE The goal of the study was to analyze ocular findings, IP minor criteria in available literature concerning IP cases published until now. METHODS We have done meta-analysis of 1931 IP patients found in 302 references publis...

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Incontinentia pigmenti*

Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four successive phases, following the line...

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[Incontinentia pigmenti].

Four new cases of incontinentia pigmenti are presented, including chromosome studies of one family. An increased number of chromosome breakages was found in the blood of affected as well as unaffected members of this family.

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ژورنال

عنوان ژورنال: Orphanet Journal of Rare Diseases

سال: 2013

ISSN: 1750-1172

DOI: 10.1186/1750-1172-8-25