Table 1.

Diagnostic criteria for Birt–Hogg–Dubé syndrome.

The patient should fulfill one major or two minor criteria for diagnosis
Major criteria
• At least 5 fibrofolliculomas or trichodiscomas, at least 1 histologically confirmed, of adult-onset
• FLCN germline mutation
Minor criteria
• Multiple pulmonary cysts, bilateral and basally located, with no other causes, with or without spontaneous primary pneumothorax
• Renal cancer, early-onset (<50 years), or multifocal and/or bilateral, or hybrid chromophobe and oncocytic histology
• One first-degree relative with BHD