The ABCs of BHD: An In-Depth Review of Birt-Hogg-Dubé Syndrome.

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.

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.

AJR. American journal of roentgenology. 2017 Oct 05 [Epub ahead of print]

Shiva Gupta, Hyunseon C Kang, Dhakshinamoorthy Ganeshan, Ajaykumar Morani, Rabindra Gautam, Peter L Choyke, Vikas Kundra

1 Department of Diagnostic Radiology, University of Texas MD Anderson Cancer, 1515 Holcombe Blvd, Unit 1473, Houston, TX 77030., 2 Harris Technical Services Corporation, National Institutes of Health/National Cancer Institute, Bethesda, MD., 3 Center for Cancer Research, National Institutes of Health/National Cancer Institute, Bethesda, MD.