背景:结节性硬化症(TSC)是一种罕见的,以各种器官系统错构瘤和肿瘤性病变为特征的复杂遗传性疾病。随着放射学和基因检测技术的发展,TSC的诊断标准于2012年在国际共识会议上更新.口腔内纤维瘤长期以来与TSC相关。然而,TSC患者中巨细胞性血管纤维瘤(GCA)的发生率极为罕见.这里,我们报告了第一例TSC患者牙龈组织中的GCA。
方法:一名41岁女性首次访问口腔颌面外科,Chonnam国立大学牙科医院,抱怨牙龈肿大。临床检查显示与TSC相关的几种表现,包括口内纤维瘤,面部血管纤维瘤,牙釉质坑,指甲纤维瘤,“五彩纸屑”皮肤损伤,低黑素性黄斑,还有一块浅绿色的补丁.口内检查显示左下颌骨有6.0×5.0厘米的牙龈过度生长。进行了手术切除,随后的组织病理学检查证实了GCA的诊断。在手术的24个月内没有复发的证据。
结论:我们报告了第一例TSC患者牙龈组织中的GCA。这份报告将有助于更好地了解这种罕见的疾病。然而,需要进一步的病例报告来阐明GCA和TSC之间的关系.
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare, complex genetic disorder characterized by hamartomas and neoplastic lesions in various organ systems. With the development of radiology and gene testing, the diagnostic criteria for TSC were updated in 2012 at the International Consensus Conference. Intraoral fibromas have long been associated with TSC. However, the incidence of giant cell
angiofibroma (GCA) in TSC patients is extremely rare. Here, we report the first
case of GCA in the gingival tissue of a patient with TSC.
METHODS: A 41-year-old woman first visited the Department of Oral and Maxillofacial Surgery, Chonnam National University Dental Hospital, complaining of gingival enlargement. Clinical examination revealed several manifestations associated with TSC, including intraoral fibromas, facial angiofibromas, dental enamel pits, ungual fibromas, \"confetti\" skin lesions, hypomelanotic macules, and a shagreen patch. Intraoral examination revealed a 6.0 × 5.0 cm gingival overgrowth on the left mandible. Surgical excision was performed, and subsequent histopathological examination confirmed the diagnosis of GCA. There was no evidence of recurrence within the 24- months of surgery.
CONCLUSIONS: We report the first
case of GCA in the gingival tissue of a patient with TSC. This report would contribute to an improved understanding of this rare disease. However, further
case reports are necessary to clarify the relationship between GCA and TSC.