The ABCs of BHD: An in-depth review of Birt-Hogg-Dubé syndrome

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

doi:10.2214/AJR.17.18071

The ABCs of BHD: An in-depth review of Birt-Hogg-Dubé syndrome

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

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31 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	1291-1296
Number of pages	6
Journal	American Journal of Roentgenology
Volume	209
Issue number	6
DOIs	https://doi.org/10.2214/AJR.17.18071
State	Published - Dec 2017

Keywords

Birt-Hogg-Dubé syndrome
Kidney
Renal cell carcinoma

ASJC Scopus subject areas

Radiology Nuclear Medicine and imaging

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10.2214/AJR.17.18071

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title = "The ABCs of BHD: An in-depth review of Birt-Hogg-Dub{\'e} syndrome",

abstract = "OBJECTIVE. Birt-Hogg-Dub{\'e} (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.",

keywords = "Birt-Hogg-Dub{\'e} syndrome, Kidney, Renal cell carcinoma",

author = "Shiva Gupta and Kang, {Hyunseon C.} and Dhakshinamoorthy Ganeshan and Ajaykumar Morani and Rabindra Gautam and Choyke, {Peter L.} and Vikas Kundra",

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year = "2017",

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doi = "10.2214/AJR.17.18071",

language = "English (US)",

volume = "209",

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journal = "American Journal of Roentgenology",

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T2 - An in-depth review of Birt-Hogg-Dubé syndrome

AU - Gupta, Shiva

AU - Kang, Hyunseon C.

AU - Ganeshan, Dhakshinamoorthy

AU - Morani, Ajaykumar

AU - Gautam, Rabindra

AU - Choyke, Peter L.

AU - Kundra, Vikas

PY - 2017/12

Y1 - 2017/12

N2 - 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.

AB - 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.

KW - Birt-Hogg-Dubé syndrome

KW - Kidney

KW - Renal cell carcinoma

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The ABCs of BHD: An in-depth review of Birt-Hogg-Dubé syndrome

Abstract

Keywords

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