这篇综述的目的是整合临床,放射学,微观,和已发表的天使病病例的分子数据,除了治疗方法,以提供有关该疾病的更简洁的信息。2019年9月进行了电子搜索。合格标准包括具有足够临床,放射学,和组织学信息来确认诊断。共纳入260份报告513例的出版物。310/458例(67.7%)有家族史。在101/108例(93.5%)中报告了SH3BP2突变,主要发生在蛋白质残基415、418、419和420。175例患者可进行回顾性临床分级。高级临床分级与牙齿发育不全有关,但不是其他临床,放射学,和遗传特征。SH3BP2突变的特定氨基酸取代与疾病的临床分级无关。“等待和观察”是最常见的治疗方法。在少数情况下,药物用于治疗,具有可变的响应。总之,基因型和疾病表型之间没有明确的相关性,但是,额外的基因组和基因表达调控信息是必要的,以更好地理解天使。
The purpose of this
review was to integrate the clinical, radiological, microscopic, and molecular data of published cherubism cases, in addition to therapeutic approaches, to provide more concise information about the disease. An electronic search was undertaken in September 2019. Eligibility criteria included publications having enough clinical, radiological, and histological information to confirm the diagnosis. A total of 260 publications reporting 513 cherubism cases were included. Familial history was observed in 310/458 cases (67.7%). SH3BP2 mutations were reported in 101/108 cases (93.5%) and mainly occurred at protein residues 415, 418, 419, and 420. Retrospective clinical grading was possible in 175 cases. Advanced clinical grading was associated with tooth agenesis, but not with other clinical, radiological, and genetic features. Specific amino acid substitutions of SH3BP2 mutations were not associated with the clinical grading of the disease. \'Wait and see\' was the most common therapeutic approach. In a small number of cases, drugs were used in the treatment, with variable response. In conclusion, there is no clear correlation between the genotype and the phenotype of the disease, but additional genomic and gene expression regulation information is necessary for a better understanding of cherubism.