Menko et al reported criteria for the diagnosis of Birt-Hogg-Dube syndrome. The authors are from multiple institutions in Europe.
(1) >= 5 fibrobolliculomas or trichodiscomas of adult onset, at least one histologically confirmed
(2) pathogenic germline mutations in FLCN
(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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