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



(1) >= 1 major criteria

(2) >= 2 minor criteria


All patients suspected of having BHDS should be offered genetic testing to confirm the diagnosis.

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