皮肤节段性镶嵌的研究进展

Advances in Cutaneous Segmental Mosaicism

皮肤镶嵌是指来源于同一受精卵的个体同时含有两种或两种以上的细胞群体并导致皮肤出现异常表型。当镶嵌的临床表型涉及一个或多个独立的身体区域时,可出现节段性损害,呈现出Blaschko线状、棋盘状、叶状及单侧分布的特殊外观。根据分子机制,这类节段性损害可分为1型节段性镶嵌、2型节段性镶嵌、表观镶嵌及回复镶嵌等。本文就皮肤节段性镶嵌相关疾病的临床特征、分子机制、诊治策略与遗传咨询等方面的研究进展进行综述。

Cutaneous mosaicism refers to the occurrence of two or more cell populations in an individual arising within a single fertilized egg and resulting in an abnormal skin phenotype. When the clinical phenotype of mosaicism involves one or more separate body areas, segmental lesions may appear, with a specific appearance of Blaschko lines, checkerboard pattern, phylloid pattern, and unilateral distribution. According to the molecular mechanism, this segmental lesion can be classified as type 1 segmental mosaicism, type 2 segmental mosaicism, epigenetic mosaicism and revertant mosaicism. This article reviews the progress of research on the clinical features, molecular mechanisms, diagnosis and treatment strategies, and genetic counseling of the related diseases of cutaneous segmental mosaicism.