Nicholson Cynthia L., Daveluy Steven
Wayne State University
The term epidermal nevus syndrome (ENS) was originally used as an all-encompassing term used to describe epidermal nevi in association with other syndromic features. In more recent years, this term was expanded to include several more well-defined neurocutaneous syndromes and their association with an epidermal nevus. The genetic basis of many of these syndromes has been elucidated in recent years. However, much is still to be learned about the genotype-phenotype correlation. Common epidermal nevi include non-epidermolytic keratinocyte nevus, nevus sebaceus, nevus comedonicus, Becker’s nevus, and CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) nevus. These are hamartomas of the skin, which are grouped as either organoid or keratinocytic. The syndromes included within this umbrella term are somewhat controversial. Therefore, the most frequently included syndromes will be discussed further. Schimmelpenning syndrome, phacomatosis pigmentokeratotica, nevus comedonicus syndrome, and Becker nevus syndrome are among the syndromes associated with organoid epidermal nevi. The syndromes associated with keratinocytic nevi include proteus syndrome and CHILD syndrome.
表皮痣综合征（ENS）这一术语最初被用作一个涵盖性术语，用于描述伴有其他综合征特征的表皮痣。近年来，该术语已扩展到包括几种定义更明确的神经皮肤综合征及其与表皮痣的关联。近年来，其中许多综合征的遗传基础已得到阐明。然而，关于基因型 - 表型相关性仍有许多有待了解之处。常见的表皮痣包括非表皮松解性角质形成细胞痣、皮脂腺痣、粉刺样痣、贝克尔痣以及CHILD（先天性半侧发育不良伴鱼鳞病样痣和肢体缺陷）痣。这些都是皮肤错构瘤，分为类器官型或角质形成细胞型。这个总括性术语所涵盖的综合征存在一定争议。因此，将进一步讨论最常包含的综合征。施密尔彭宁综合征、色素角化性错构瘤病、粉刺样痣综合征和贝克尔痣综合征都属于与类器官型表皮痣相关的综合征。与角质形成细胞痣相关的综合征包括变形综合征和CHILD综合征。
