The ABCs of BHD: An In-Depth Review of Birt-Hogg-Dubé Syndrome.
AJR Am J Roentgenol. 2017 Dec;209(6):1291-1296. doi: 10.2214/AJR.17.18071. Epub 2017 Oct 5. Gupta S1, Kang HC1, Ganeshan D1, Morani A1, Gautam R2, Choyke PL3, Kundra V1,4.
OBJECTIVE: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant inherited syndrome involving multiple organs. In young patients, renal neoplasms that are multiple, bilateral, or both, such as oncocytomas, chromophobe renal cell carcinoma (RCC), hybrid chromophobe RCC-oncocytomas, clear cell RCC, and papillary RCC, can suggest BHD syndrome. Extrarenal findings, including dermal lesions, pulmonary cysts, and spontaneous pneumothoraces, also aid in diagnosis.
CONCLUSION: Radiologists may be one of the first medical specialists to suggest the diagnosis of BHD syndrome. Knowledge of pathogenesis and management, including the importance of the types of renal neoplasms in a given patient, is needed to properly recognize this rare condition.