Giant cell angiofibroma of gingiva in tuberous sclerosis complex: a case report and literature review.

IF 2.3 3区医学 Q2 PATHOLOGY Diagnostic Pathology Pub Date : 2024-03-08 DOI:10.1186/s13000-024-01467-4

Qiaochu Sun, Jaeyoung Ryu, Young Kim

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Abstract

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.

Case presentation: 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.

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结节性硬化症复合体牙龈巨细胞血管纤维瘤：病例报告和文献综述。

背景：结节性硬化症复合体（TSC）是一种罕见的复杂遗传性疾病，其特征是在不同器官系统中出现仓鼠肉瘤和肿瘤性病变。随着放射学和基因检测技术的发展，2012年国际共识会议更新了TSC的诊断标准。长期以来，口腔内纤维瘤一直与TSC有关。然而，巨细胞血管纤维瘤（GCA）在TSC患者中的发病率却极为罕见。在此，我们报告了首例TSC患者牙龈组织中的GCA病例：一名 41 岁的女性首次到全南大学牙科医院口腔颌面外科就诊，主诉牙龈肿大。临床检查发现了几种与 TSC 相关的表现，包括口腔内纤维瘤、面部血管纤维瘤、牙釉质凹陷、单龈纤维瘤、"纸屑 "状皮损、色素减退性斑丘疹和长绿斑。口腔内检查发现，左下颌有一个 6.0 × 5.0 厘米的牙龈增生。手术切除后，组织病理学检查确诊为 GCA。术后 24 个月内无复发迹象：我们报告了首例在 TSC 患者牙龈组织中发现 GCA 的病例。结论：我们报告了首例在 TSC 患者牙龈组织中发现 GCA 的病例，这将有助于加深对这种罕见疾病的了解。然而，还需要更多的病例报告来阐明GCA与TSC之间的关系。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Diagnostic Pathology 医学-病理学

CiteScore

4.60

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Diagnostic Pathology is an open access, peer-reviewed, online journal that considers research in surgical and clinical pathology, immunology, and biology, with a special focus on cutting-edge approaches in diagnostic pathology and tissue-based therapy. The journal covers all aspects of surgical pathology, including classic diagnostic pathology, prognosis-related diagnosis (tumor stages, prognosis markers, such as MIB-percentage, hormone receptors, etc.), and therapy-related findings. The journal also focuses on the technological aspects of pathology, including molecular biology techniques, morphometry aspects (stereology, DNA analysis, syntactic structure analysis), communication aspects (telecommunication, virtual microscopy, virtual pathology institutions, etc.), and electronic education and quality assurance (for example interactive publication, on-line references with automated updating, etc.).