Nasrallah Hitaf, Berro Khetam
Department of Pediatric Dentistry, Lebanese University Faculty of Dental Medicine, Beirut, LBN.
Cureus. 2024 Feb 7;16(2):e53787. doi: 10.7759/cureus.53787. eCollection 2024 Feb.
This clinical case report details the comprehensive diagnosis and dental management of a seven-year-old female patient diagnosed with the rare genetic disorder, amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS). The case initially presented as congenital adrenal hyperplasia and amelogenesis imperfecta, but further genetic analysis revealed the involvement of AIGFS due to a mutation in the gene. Diagnosis, confirmed through whole exome sequencing, clinical assessment, and laboratory tests, necessitated a multidisciplinary approach to address the treatment of such cases. The article underscores the critical importance of diagnosing and managing dental manifestations in pediatric patients with complex genetic conditions, highlighting the difficulties of treating AIGFS in mixed dentition. This case also highlights the indispensable role of pediatric dentists in diagnosing and treating these cases, ultimately improving the quality of life for individuals with AIGFS.
本临床病例报告详细介绍了一名七岁女性患者的综合诊断和牙科治疗情况,该患者被诊断患有罕见的遗传性疾病——牙釉质发育不全和牙龈纤维瘤病综合征(AIGFS)。该病例最初表现为先天性肾上腺增生和牙釉质发育不全,但进一步的基因分析显示,由于基因发生突变,该病例涉及AIGFS。通过全外显子组测序、临床评估和实验室检查确诊后,需要采用多学科方法来处理此类病例的治疗。本文强调了在患有复杂遗传疾病的儿科患者中诊断和管理牙齿表现的至关重要性,突出了在混合牙列期治疗AIGFS的困难。该病例还凸显了儿科牙医在诊断和治疗这些病例中不可或缺的作用,最终改善了AIGFS患者的生活质量。