Paller Amy S
Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
J Clin Invest. 2004 Nov;114(10):1407-9. doi: 10.1172/JCI23580.
Autosomal dominant disorders of the skin may present in a pattern following the lines of embryologic development of the ectoderm. In these cases, the surrounding skin is normal, and molecular studies have shown that the causative mutation is confined to the affected ectodermal tissue (type 1 mosaicism). Rarely, an individual shows skin lesions that follow the pattern of type 1 mosaicism, but the rest of the skin shows a milder form of the disorder (type 2 mosaicism). A new study provides the molecular basis for type 2 mosaicism.
常染色体显性遗传性皮肤病可能按照外胚层胚胎发育线的模式出现。在这些病例中，周围皮肤是正常的，分子研究表明致病突变局限于受影响的外胚层组织（1型镶嵌现象）。极少数情况下，个体表现出符合1型镶嵌现象模式的皮肤病变，但其余皮肤表现出较轻形式的疾病（2型镶嵌现象）。一项新研究提供了2型镶嵌现象的分子基础。
