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Auricular fistula: a review of its clinical manifestations, genetics, and treatments

期刊

JOURNAL OF MOLECULAR MEDICINE-JMM
卷 101, 期 9, 页码 1041-1058

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SPRINGER HEIDELBERG
DOI: 10.1007/s00109-023-02343-2

关键词

Auricular fistula; Preauricular fistula; Postauricular fistula; Genetics; Syndrome

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Auricular fistula is a common congenital malformation characterized by a small opening in the skin and a subcutaneous cyst. It can vary in classification based on the position and direction of the fistula. The etiopathogenesis is believed to be an incorrect fusion of six auricular hillocks. This article provides a comprehensive review of auricular fistula, focusing on the congenital preauricular fistula, including its clinical manifestations, embryological development, genetics, examinations, treatments, and associated syndromes.
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.

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