Department of Respiratory and Critical Care Medicine, Qingdao Municipal Hospital affiliated to Qingdao University, Qingdao, China.
Dalian Medical University, Dalian, China.
Am J Med Genet A. 2021 Dec;185(12):3905-3908. doi: 10.1002/ajmg.a.62421. Epub 2021 Jul 10.
Cutaneous angiofibroma is part of the classic triad of tuberous sclerosis complex (TSC). Angiofibroma is rarely reported to affect the mucous membranes of the trachea and bronchus. Tracheobronchial angiofibroma is also a hamartomatous manifestation of TSC. Considering the paucity of literature describing tracheal lesions in TSC, more case reports are needed to guide treatment planning. This case report adds to the existing clinical literature and provides a reference for clinical diagnosis.
皮肤血管纤维瘤是结节性硬化症（TSC）经典三联征的一部分。血管纤维瘤很少发生于气管和支气管的黏膜。气管支气管血管纤维瘤也是 TSC 的错构瘤表现。鉴于描述 TSC 气管病变的文献较少，需要更多的病例报告来指导治疗计划。本病例报告增加了现有临床文献，并为临床诊断提供了参考。
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