Patients with Birt-Hogg-Dube Syndrome often have pulmonary involvement. Gupta et al reported criteria for the diagnosis of pulmonary findings indicative of BHDS. The authors are from the University of Cincinnati.
Parameters:
(1) high-resolution CT (HRCT) of the lung
(2) skin biopsy
(3) family history
(4) renal tumor (chromophobe adenoma or oncocytoma or angiomyolipoma)
(5) genetic testing for FLCN
(6) personal history of pneumothorax
Definite pulmonary BHDS - both of the following:
(1) characteristic or compatible lung HRCT
(2) one or more of the following:
(2a) skin biopsy positive for fibrofolliculoma or trichodiscoma
(2b) first or second degree family member with confirmed BHDS
(2c) renal chromophobe adenoma or oncocytoma
(2d) genetic testing positive for BHDS
Probable pulmonary BHDS - all of the following:
(1) characteristic or compatible lung HRCT
(2) exclusion of tuberous sclerosis complex and lymphangioleiomyomatosis
(3) one or more of the following:
(3a) personal or family history of pneumothorax
(3b) family or personal history of renal tumor
(3c) skin angiofibroma
(3d) renal angiomyolipoma
Possible pulmonary BHD: characteristic or compatible lung HRCT
