Numerous asymptomatic facial papules and multiple pulmonary cysts: a case of Birt-Hogg-Dubé syndrome.
Birt-Hogg-Dubé syndrome (BHDS) is a rare genodermatosis with cutaneous and systemic findings. We report the case of a 47-year-old woman with BHDS who presented with numerous facial papules and the more recently associated finding of pulmonary cysts. We review recent genetic discoveries and the cutaneous and systemic findings associated with this rare syndrome.
Kupres
Krista A
KA
San Antonio Uniformed Services Health Education Consortium, Texas, USA.
Krivda
Stephen J
SJ
Turiansky
George W
GW
D003111:Colonic Polyps / Q000175:diagnosis; D003937:Diagnosis, Differential; D005153:Facial Neoplasms / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008175:Lung Neoplasms / Q000175:diagnosis*; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis*