Menko et al reported criteria for the diagnosis of Birt-Hogg-Dube syndrome. The authors are from multiple institutions in Europe.
Major criteria:
(1) >= 5 fibrobolliculomas or trichodiscomas of adult onset, at least one histologically confirmed
(2) pathogenic germline mutations in FLCN
Minor criteria:
(1) multiple lung cysts bilateral, basally located lung cysts with no other apparent cause, with or without spontaneous primary pneumothorax
(2) renal cancer with (a) age < 50 years OR (b) multifocal or bilateral OR (c) histology chromophobe or oncoytic
(3) first-degree relative with BHDS
Diagnosis:
(1) >= 1 major criteria
(2) >= 2 minor criteria
All patients suspected of having BHDS should be offered genetic testing to confirm the diagnosis.
