EPIDERMAL MOSAICISM AND BLASCHKO LINES
EPIDERMAL MOSAICISM AND BLASCHKO LINES
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DOI：
10.1136/jmg.30.9.752
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发表时间：
1993-09-01
影响因子：
4
通讯作者：
DAVISON, EV
中科院分区：
文献类型：
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作者：
MOSS, C;LARKINS, S;DAVISON, EV
为了验证这一假设，即表皮而不是真皮镶嵌决定Blaschko的线在伊藤（HI）的黑色素减少症，我们研究了4例患者的染色体镶嵌的分布。在两个，镶嵌没有检测到淋巴细胞或真皮成纤维细胞，但清楚地显示在表皮角质形成细胞，此外，异常细胞系仅限于色素减退的表皮和正常表皮只包含正常细胞。另外两名患者的阴性结果可能是由于镶嵌现象，由于它是亚显微镜下的，或者因为它存在于黑素细胞中，尚未被研究，因此未被检测到。这些初步结果支持以下观点：（1）Blaschko细胞系代表表皮细胞的单一克隆;（2）在HI和严重神经系统受累的患者中，嵌合体（如果可检测到）最好在角质形成细胞中显示;（3）表皮细胞的细胞遗传学缺陷可能是HI色素沉着失败的直接原因。
To test the hypothesis that epidermal rather than dermal mosaicism determines Blaschko's lines in hypomelanosis of Ito (HI), we studied the distribution of chromosomal mosaicism in four patients. In two, mosaicism had not been detected in lymphocytes or dermal fibroblasts, but was clearly shown in epidermal keratinocytes; furthermore, the abnormal cell line was confined to the hypopigmented epidermis and the normal epidermis contained only normal cells. Negative findings in the other two patients might be because of mosaicism which was undetected either because it was submicroscopic or because it was present in melanocytes, which have not yet been studied. These preliminary results support the ideas that (1) Blaschko's lines represent single clones of epidermal cells; (2) in patients with HI and severe neurological involvement mosaicism, if detectable, is best shown in keratinocytes; and (3) the cytogenetic defect in epidermal cells may be directly responsible for the failure of pigmentation in HI.