. 2019 Oct 24;5(11):947–952. doi: 10.1016/j.jdcr.2019.08.018

Table I.

Criteria for diagnosis of Birt-Hogg-Dubé syndrome

Major criteria^∗

•
Presence of >4 papules in the face or trunk and ≥1 fibrofolliculoma confirmed by histology
•
Pathogenic germline mutation in FLCN

Minor criteria^∗

•
Presence of multiple, basally located, bilateral lung cysts with no other apparent cause ± spontaneous primary pneumothorax
•
Diagnosis of renal cancer: early-onset (<50 years), multifocal, or bilateral renal cancer, or mixed chromophobe and oncocytic renal cancer
•
Family history: first-degree relative with BHDS diagnosis

BHDS, Birt-Hogg-Dubé syndrome.

^∗

Patients need to fulfill 1 major criterion or 2 minor criteria for diagnosis. Adapted from Toro.¹