title: Incidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dube syndrome.
abstract: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant condition characterised by benign tumours of the hair follicle, renal cancer, pulmonary cysts and spontaneous pneumothorax. We report the diagnosis of a BHD syndrome achieved after incidental radiological finding of a renal tumour in a 24-year old man. The patient also displayed recurrent pneumothoraces and showed to have cysts in the basis of both lungs. The association of recurrent pneumothoraces and renal neoplastic disease should alert for the possible presence of this syndrome.
authors.affiliation: Department of Radiology UZ Gent, Belgium.
authors.forename: M
authors.initials: M
authors.lastname: Schreuer
authors.forename: M
authors.initials: M
authors.lastname: Lemmerling
authors.forename: W
authors.initials: W
authors.lastname: Pauwels
authors.forename: D
authors.initials: D
authors.lastname: Dewilde
authors.forename: C
authors.initials: C
authors.lastname: Heyse
authors.forename: K L
authors.initials: KL
authors.lastname: Verstraete
mesh_terms: D058249:Birt-Hogg-Dube Syndrome / Q000175:diagnosis*; D006801:Humans; D033162:Incidental Findings; D007680:Kidney Neoplasms / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed; D055815:Young Adult