Covello Brian, Kaufman Sean, Whittington Elizabeth, Enrizo Orlando
Department of Interventional Radiology, Kendall Regional Medical Center, 11750 SW 40th St, Miami, FL 33175, USA.
Department of Pathology, Kendall Regional Medical Center, 11750 SW 40th St, Miami, FL 33175, USA.
Radiol Case Rep. 2021 Mar 26;16(6):1249-1254. doi: 10.1016/j.radcr.2021.02.058. eCollection 2021 Jun.
Birt-Hogg-Dube syndrome is a rare autosomal dominant disorder characterized by pulmonary cysts, renal tumors, and dermal lesions. This syndrome results from a mutation in the gene folliculin, located on chromosome 17p11.2. Herein, a case is described in which the presence of bilateral renal oncocytomas led to the diagnosis of Birt-Hogg-Dube syndrome via an interdisciplinary effort by radiology, pathology, and primary care medicine. No radiographic features alone are sufficient to confirm the diagnosis of Birt-Hogg-Dube. A high index of suspicion must be maintained by both the pathologist and radiologist in the appropriate clinical setting.
Birt-Hogg-Dube综合征是一种罕见的常染色体显性疾病，其特征为肺囊肿、肾肿瘤和皮肤病变。该综合征由位于17号染色体p11.2位置的卵泡抑素基因突变引起。本文描述了一例病例，通过放射科、病理科和初级保健医学的多学科协作，双侧肾嗜酸细胞瘤的存在导致了Birt-Hogg-Dube综合征的诊断。仅靠影像学特征不足以确诊Birt-Hogg-Dube综合征。在适当的临床环境中，病理学家和放射科医生都必须保持高度的怀疑指数。
