结核性硬化综合体呈现为周节纤维瘤:一个罕见的病例报告和文献综述
Ying Li1, Zhipeng Wang1, Yanhua Yang2
1Department of Pathology, Sanya Central Hospital (The Third People's Hospital of Hainan Province), Sanya, 572000, People's Republic of China.
结核性硬化综合体 (TSC) 是一种罕见的遗传疾病,可以在成年时表现出来. 这种病例突出显示TSC呈现为周口纤维瘤,以及下垂体结节和囊.
科学领域:
- 医学遗传学 医学遗传学
- 皮肤病学 皮肤病学
- 神经学 神经学
背景情况:
- 结核性硬化综合体 (TSC) 是一种罕见的自体主导遗传性疾病.
- 它影响多个器官,通常在婴儿或儿童时期被诊断出来.
- 成人发病的TSC不常见,通常呈现出微妙或非典型的症状.
研究的目的:
- 报告一个罕见的成年TSC病例.
- 强调周纤维瘤 (PF) 作为TSC的初始表现.
- 为了将临床发现与诊断成像和病理学相关联.
主要方法:
- 一个67岁的男性的临床病例介绍.
- 身体检查侧重于皮肤学发现 (周围瘤).
- 诊断成像 (CT扫描) 检查下垂体结节和囊.
- 切除纤维瘤的组织病理学分析.
主要成果:
- 这位患者在脚上出现了复发的周多型瘤.
- 扫描显示了多个子膜结节和囊.
- 病理学证实了带上皮层增生的纤维皮质病变.
- 基于这些发现,TSC的诊断是建立的.
结论:
- 在成年后,TSC可以异常呈现,带有周纤维瘤.
- 这一案例凸显了在患有不明原因纤维瘤的成年患者中考虑TSC的重要性.
- 多系统评估对于诊断TSC至关重要,即使是在晚发病的情况下.
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