Minić Snezana, Obradović Miljana, Kovacević Igor, Trpinac Dusan
'Institute of Dermatology, Clinical Centre of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
Srp Arh Celok Lek. 2010 Jul-Aug;138(7-8):408-13. doi: 10.2298/sarh1008408m.
Incontinentia pigmenti (IP) is an X-linked genodermatosis in which skin changes are combined with dental, eye and central nervous system anomalies.
The goal of the study was to analyze ocular findings, IP minor criteria in available literature concerning IP cases published until now.
We have done meta-analysis of 1931 IP patients found in 302 references published until 2010. Comparison of data published for the 1906-1976 and 1976-2010 periods was made. The collected data were mainly frequencies of ocular anomalies. Chi-square test was used to compare observed frequencies with their expectations.
Of total number of IP patients, 1227 were ophthalmologically investigated. In 449 such patients 972 eye anomalies were registered, 2.16 anomalies per patient. Proportion of ophthalmologically investigated IP patients in the period 1906-1975 (70%) was higher than corresponding proportion (60%) for the period 1976-2010. For 1906-2010 period 36.5% IP patients with eye anomalies were diagnosed. The number of amaurotic eyes per patient did not significantly differ for the two periods (p = 0.50; > 0.05). The total number of eye anomalies per patient significantly differed for the same periods (p = 0.00005; < 0.05). Retinal anomalies were most frequent in both periods.
This study suggests that IP is far more frequent than anyone could estimate. We believe that this study, covering 1906-2010 period, gives more reliable information about ophthalmological findings in IP; considering them as severe anomalies. Early detection and treatment of ophthalmological, neurological etc. findings may prevent severe consequences that IP may cause.
色素失禁症（IP）是一种X连锁遗传性皮肤病，其皮肤变化与牙齿、眼睛及中枢神经系统异常并存。
本研究旨在分析现有文献中关于色素失禁症病例的眼部表现及色素失禁症次要标准。
我们对截至2010年发表的302篇参考文献中发现的1931例色素失禁症患者进行了荟萃分析。对1906 - 1976年和1976 - 2010年期间发表的数据进行了比较。收集的数据主要是眼部异常的频率。采用卡方检验将观察到的频率与其预期值进行比较。
在色素失禁症患者总数中，1227例接受了眼科检查。在449例此类患者中，记录到972处眼部异常，平均每位患者有2.16处异常。1906 - 1975年期间接受眼科检查的色素失禁症患者比例（70%）高于1976 - 2010年的相应比例（60%）。在1906 - 2010年期间，36.5%的色素失禁症患者被诊断出有眼部异常。两个时期每位患者黑蒙性眼的数量无显著差异（p = 0.50；> 0.05）。同一时期每位患者的眼部异常总数有显著差异（p = 0.00005；< 0.05）。视网膜异常在两个时期都是最常见的。
本研究表明色素失禁症的实际发病率远比任何人估计的要高。我们认为，这项涵盖1906 - 2010年期间的研究，给出了关于色素失禁症眼部表现的更可靠信息；将这些表现视为严重异常。早期发现和治疗眼科、神经科等方面的表现可能预防色素失禁症可能导致的严重后果。
