Diagnostic criteria proposed by Menko [58] |
Patient should fulfil one major or two minor criteria for diagnosis |
Major criteria: |
At least five fibrofolliculomas or trichodiscomas, at least one histologically confirmed, of adult onset |
Pathogenic FLCN germline mutation |
Minor criteria: |
Multiple lung cysts: bilateral basally located lung cysts with no other apparent cause, with or without spontaneous primary pneumothorax |
Renal cancer: early onset (age <50 years) or multifocal or bilateral renal cancer, or renal cancer of mixed chromophobe and oncocytic histology |
A first-degree relative with BHD |
Diagnostic criteria proposed by Gupta [57] |
Definite pulmonary BHD: |
Characteristic# or compatible¶ lung HRCT and skin biopsy positive for fibrofolliculoma or trichodiscoma |
Characteristic or compatible lung HRCT and confirmed family history of BHD in first- or second-degree family member |
Characteristic or compatible lung HRCT, and tissue confirmation or renal chromophobe adenoma or oncocytoma |
Characteristic or compatible lung HRCT, and tissue confirmation of genetic testing positive for BHD |
Probable pulmonary BHD: |
Characteristic HRCT, exclusion of TSC and LAM, and personal or family history of pneumothorax |
Compatible HRCT, exclusion of TSC and LAM, and any of the following: |
Family or personal history of renal tumours |
Skin angiofibroma |
Renal angiomyolipoma |
Possible pulmonary BHD: |
Compatible or characteristic HRCT |