HYPOMELANOSIS OF ITO - SPECTRUM OF THE DISEASE
HYPOMELANOSIS OF ITO - SPECTRUM OF THE DISEASE
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DOI：
10.1016/s0022-3476(89)80332-4
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发表时间：
1989-07-01
影响因子：
5.1
通讯作者：
ATHERTON, DJ
中科院分区：
文献类型：
--
作者：
GLOVER, MT;BRETT, EM;ATHERTON, DJ
描述了 19 名患有伊藤色素减退症的儿童。十四人发育迟缓，九人有癫痫病史。四名患者出现偏侧肥大，三名患者出现并趾，一名患者出现脊柱侧凸。其中十二名儿童的脑电图异常，九名儿童的脑部扫描异常，其中四名的外观提示神经元迁移异常。无论是来自文献还是来自我们的患者，几乎没有证据表明这种疾病是遗传性的。皮肤病变的模式表明，这种情况可能是由于镶嵌现象而存在两种不同的细胞群所致。
Nineteen children with hypomelanosis of Ito are described. Fourteen were developmentally delayed and nine had a history of seizures. Hemihypertrophy was present in four patients, syndactyly in three, and scoliosis in one. Twelve of the children had abnormal electroencephalograms and nine had abnormal brain scans, four with appearances suggestive of abnormal neuronal migration. There is very little evidence, either from the literature or from our patients, that the disease is inherited. The pattern of the cutaneous lesions suggests that the condition may result from the presence of two different cell populations as a result of mosaicism.