Xin Jason, Goffinet Aaron, Machusko Steven, Shoela Ramy
Radiology, Saint Louis University Hospital, Saint Louis, USA.
Cureus. 2023 Mar 13;15(3):e36074. doi: 10.7759/cureus.36074. eCollection 2023 Mar.
Birt-Hogg-Dube syndrome (BHD) is a rare autosomal dominant disease classically associated with fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancers. Information about its manifestation aside from the ones listed prior is limited. There have been several reports of BHD associated with parotid oncocytomas and rare benign epithelial tumors. Here, we report the first known case of BHD in association with parotid acinic cell carcinoma, a rare low-grade malignant tumor of salivary glands.
Birt-Hogg-Dube综合征（BHD）是一种罕见的常染色体显性疾病，典型表现为纤维毛囊瘤、肺囊肿、自发性气胸和肾癌。除了上述所列表现外，关于其临床表现的信息有限。已有几例关于BHD与腮腺嗜酸性细胞瘤及罕见的良性上皮肿瘤相关的报道。在此，我们报告首例已知的BHD合并腮腺腺泡细胞癌的病例，腮腺腺泡细胞癌是一种罕见的低度恶性唾液腺肿瘤。
