Wang L, Jin X, Zhao X, Liu D, Hu T, Li W, Jiang L, Dan H, Zeng X, Chen Q
State Key Laboratory of Oral Diseases, West China Hospital of Stomatology, Sichuan UniversityChengdu, Sichuan, China.
Oral Dis. 2014 Jan;20(1):17-24. doi: 10.1111/odi.12083. Epub 2013 Mar 6.
Focal dermal hypoplasia (FDH), or Goltz-Gorlin syndrome, is a rare syndrome and may result in multisystem disorders. Several reviews of FDH have been published. However, the last comprehensive review of this disorder appeared more than 20 years ago. To date, a number of new clinical manifestations have been reported and considerable knowledge has accumulated regarding etiology and pathogenetic mechanisms. The purpose of this review is to gather these more recent data and to provide organized and reliable information. So we reviewed 159 cases of FDH that had been reported from 1990 to 2012, summarized the new discoveries, and suggested a potential standard for the diagnosis of FDH. We also reported on a Chinese girl with FDH, who was clinically and histologically in accord with FDH, as an example.
局灶性真皮发育不全（FDH），即戈尔茨-戈林综合征，是一种罕见的综合征，可能导致多系统疾病。此前已发表了几篇关于FDH的综述。然而，上一次对该疾病的全面综述发表于20多年前。迄今为止，已有许多新的临床表现被报道，并且在病因学和发病机制方面积累了大量知识。本综述的目的是收集这些最新数据，并提供有条理且可靠的信息。因此，我们回顾了1990年至2012年期间报道的159例FDH病例，总结了新发现，并提出了一个潜在的FDH诊断标准。我们还报告了一名患有FDH的中国女孩，她在临床和组织学上均符合FDH，作为一个例子。
