Facial Papules in Birt-Hogg-Dubé Syndrome: A Growing Spectrum of Pathologic Findings

Birt-Hogg-Dubé syndrome is rare genodermatosis caused by a mutation in the folliculin gene. It is characterized by pulmonary cysts, renal tumors, and a variety of skin manifestations including trichodiscomas, fibrofolliculomas, less commonly reported angiofibromas, and perifollicular fibromas.  These cutaneous lesions have overlapping histopathologic features. Here we report a case of a man presenting with facial papules and nonspecific histology found to have Birt-Hogg-Dubé syndrome and a novel mutation in the folliculin gene. Our aim is to raise awareness of the spectrum of associated cutaneous and pathologic findings in Birt-Hogg-Dubé syndrome, which are not all included in the diagnostic criteria.