Mosaicism in the skin: the importance of mild or minimal skin lesions.
Mosaicism in the skin: the importance of mild or minimal skin lesions.
复制标题
皮肤镶嵌：轻度或最小皮肤损伤的重要性。
作者：
C. Has
由于其可访问性，皮肤提供了观察和研究马赛克现象的独特机会。这似乎比我们过去认为的更频繁。嵌合现象是指在一个个体中存在2个（或更多）来自同一受精卵的遗传上不同的细胞群。在20世纪80年代，优秀的临床医生对皮肤中的马赛克图案进行了临床观察。医学博士鲁道夫·哈普（Rudolf Happle）早在分子遗传学证据出现之前，就提出了关于皮肤镶嵌现象的新遗传学概念。他还描述了X-显性点状软骨发育不良，也称为ConradiHünermann-Happle综合征（CDPX 2 [OMIM 302960]），并预测了Blaschko线的意义。在1977年至1981年，CDPX 2的主要特征被描述为：X-连锁显性遗传模式和多器官受累，与Blaschko线后的线性鱼鳞病、点状软骨发育不良、白内障和身材矮小相关。将骨骼异常、白内障和线性皮肤病变的不对称性解释为X线失活导致的功能镶嵌的后果，也是一项了不起的成就。
O WING TO ITS ACCESSIBILITY, THE SKIN OFfers unique opportunities to observe and study the phenomenon of mosaicism. This seems to be more frequent than we used to believe. However, one must be aware of it to “see” it. The term mosaicism refers to the presence in an individual of 2 (or more) genetically distinct cell populations derived from the same zygote. In the 1980s, excellent clinicians provided clinical observations on mosaic patterns in the skin. It was Rudolf Happle, MD, who postulated new genetic concepts on mosaicism in skin, long before molecular genetic evidence was available. He also delineated the X-dominant chondrodysplasia punctata, known also as ConradiHünermann-Happle syndrome (CDPX2 [OMIM 302960]) and predicted the significance of Blaschko lines. In the years 1977 to 1981, the main characteristics of CDPX2 were described: the X-linked dominant inheritance pattern and the multiple organ involvement associating linear ichthyosis following the lines of Blaschko, chondrodysplasia punctata, cataracts, and short stature. The interpretation of the asymmetry of skeletal abnormalities, cataracts, and linear skin lesions, as consequences of functional mosaicism resulting from X-inactivation, was also a remarkable achievement.
1 型神经纤维瘤病患者的体细胞镶嵌。
影响因子：
9.8
作者：
Colman,SD;Rasmussen,SA;Ho,VT;Abernathy,CR;Wallace,MR
通讯作者：
Wallace,MR
影响因子：
13.6
作者：
Lai-Cheong JE;McGrath JA;Uitto J
通讯作者：
Uitto J