Torchia Daniele
Department of Dermatology, James Paget University Hospital, Great Yarmouth, UK.
Pediatr Dermatol. 2021 Mar;38(2):359-363. doi: 10.1111/pde.14508. Epub 2021 Jan 22.
Nevus comedonicus (NC) syndrome is a condition first identified in 1978. The cause of NC syndrome has been recently proven to be a gain-of-function, mosaic postzygotic mutation of the NEK9 gene. A systematic review of the literature retrieved 43 well-established cases of NC syndrome reported so far. Three morphological variants of NC in NC syndrome emerged: (a) the more common, predominantly comedonal type; (b) "Selhorst type"; and (c) "atrophoderma vermiculatum" type. NC syndrome is mainly associated with ocular, skeletal, and neural abnormalities, most typically ipsilateral congenital cataract and malformations of fingers and toes.
黑头粉刺痣（NC）综合征是一种于1978年首次被发现的病症。最近已证实，NC综合征的病因是NEK9基因的功能获得性、嵌合型合子后突变。对文献的系统回顾检索到了迄今为止报道的43例确诊的NC综合征病例。NC综合征中出现了三种NC的形态学变体：（a）较常见的、以粉刺为主型；（b）“塞尔霍斯特型”；以及（c）“蠕虫状萎缩性皮炎”型。NC综合征主要与眼部、骨骼和神经异常相关，最典型的是同侧先天性白内障以及手指和脚趾畸形。
