背景:这篇文献综述的目的是列出文献中报道的巨舌症的不同病因,为了识别可能指导诊断的特征,并创建诊断算法。
方法:在2019年10月至2020年7月期间,在PubMed研究基地中使用关键词“巨舌”(MESH)和/或“舌头扩大”进行了书目搜索。
结果:在确定的1711个参考文献中,615篇文章被排除在外,审查了1096份摘要。我们根据其机制以及它们是先天性的还是获得性的,对确定的不同病因进行了分类。病因分为以下几类:遗传性畸形综合征,非综合征性先天性畸形,内分泌疾病,神经肌肉疾病,储存障碍,传染性,炎症,创伤性,和医源性疾病。
结论:基于这篇综述,根据所描述的特征,我们提出了一种诊断算法。获得性原因中最常见的诊断是淀粉样变性(13.7%),内分泌疾病(8.8%),肌病(4%)和舌肿瘤(6.7%)。最常见的先天性原因是非整倍体,淋巴畸形,Beckwith-Wiedemann综合征,这是先天性巨舌症的主要原因,即使它看起来是孤立的。
BACKGROUND: The objective of this literature
review was to list the different etiologies of macroglossia reported in the literature, to identify characteristics that might guide diagnosis, and to create a diagnostic algorithm.
METHODS: The bibliographic search was carried out between October 2019 and July 2020 in the PubMed research base using the keywords \"macroglossia\" (MESH) and/or \"tongue enlargement\".
RESULTS: Of the 1711 references identified, 615 articles were excluded, and 1096 abstracts were reviewed. We classified the different etiologies identified according to their mechanism and whether they were congenital or acquired. The etiologies are divided into the following categories: genetic malformation syndromes, non-syndromic congenital malformations, endocrinopathies, neuromuscular diseases, storage disorders, infectious, inflammatory, traumatic, and iatrogenic diseases.
CONCLUSIONS: Based on this
review, we propose a diagnostic algorithm for macroglossia according to the characteristics described. The most common diagnoses among acquired causes were amyloidosis (13.7%), endocrinopathies (8.8%), myopathies (4%) and tongue tumors (6.7%). The most common congenital causes were aneuploidy, lymphatic malformations, and Beckwith-Wiedemann syndrome, which is the main cause of congenital macroglossia, even if it appears isolated.