Health Management Center, the Third Xiangya Hospital, Central South University, Changsha, 410013, China.
Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, 410013, China.
J Mol Med (Berl). 2023 Sep;101(9):1041-1058. doi: 10.1007/s00109-023-02343-2. Epub 2023 Jul 17.
Auricular fistula is a common congenital auricular malformation, characterized as a small opening in the skin and a subcutaneous cyst. It can be classified in different ways according to positions of pits and directions of fistula tracts. The term preauricular fistula and variant type of preauricular fistula (postauricular fistula) are used. Auricular fistula prevalence varies in countries and populations, and its actual prevalence is presently unknown. The most accepted and widely cited theory of auricular fistula etiopathogenesis is an incorrect or incomplete fusion of six auricular hillocks that are mesenchymal proliferations. Auricular fistula can occur either sporadically or genetically. The pattern in inherited cases is thought to be incomplete autosomal dominant, with variable expressions, reduced penetrance, and inapparent gender differences. Auricular fistula has several forms and is reported as being a component of many syndromes. In the field of genetics, currently, there is no related review to comprehensively summarize the genetic basis of auricular fistula and related disorders. This article provides a comprehensive review of auricular fistula, especially congenital preauricular fistula, which accounts for the majority of auricular fistula, by summarizing the clinical manifestations, histological and embryological development, genetics, examinations, and treatments, as well as syndromes with auricular fistula.
先天性耳前瘘管是一种常见的先天性耳畸形,表现为皮肤的一个小开口和皮下的一个囊腔。它可以根据瘘管的位置和方向进行不同的分类。使用术语“耳前瘘管”和“耳前瘘管的变异型(耳后瘘管)”。先天性耳前瘘管的患病率在不同国家和人群中有所不同,其实际患病率目前尚不清楚。最被广泛接受和引用的先天性耳前瘘管病因学理论是六个耳丘之间的异常融合,耳丘是间充质增生。先天性耳前瘘管可以是散发的,也可以是遗传的。遗传病例的模式被认为是不完全常染色体显性遗传,具有可变的表达、低外显率和不明显的性别差异。先天性耳前瘘管有几种形式,并被报道为许多综合征的一个组成部分。在遗传学领域,目前还没有相关综述来全面总结先天性耳前瘘管及相关疾病的遗传基础。本文通过总结先天性耳前瘘管(占大多数)的临床表现、组织学和胚胎发育、遗传学、检查和治疗,以及伴有先天性耳前瘘管的综合征,对先天性耳前瘘管进行了全面的综述。