Background:
Birt-Hogg-Dubé Syndrome (BHDS), an autosomal dominant hereditary condition, occurs due to
mutations in the gene encoding folliculin (FLCN) in the short arm of the 17th chromosome characterized by lung cysts
with specific skin findings and renal cell carcinoma. Patients are usually present with complaints of dyspnea and chest
pain due to pneumothorax, but also may be asymptomatic due to wide phenotypic heterogeneity. Herein, we report the
imaging findings of a case 32-year-old male with BHDS without any symptom who diagnosed incidentally by computed
tomography (CT) because of being organ donation.
Case Report:
In a 32-year-old male patient evaluated as a potential liver donor, CT was performed for preoperative
preparation. The patient's medical history was unremarkable. In the CT examination, multiple air cysts of different sizes in
the both lungs were observed and also, a 7-cm solid renal mass of the right kidney was observed in the dynamic
examination. Due to the large number of lung cysts and the presence of solid renal tumors at a young age, BHDS was
considered. The patient underwent partial nephrectomy and the pathology result was hybrid oncocytic-chromophobe renal
cell carcinoma. In the genetic examination, a heterozygous germline mutation was detected in the 11th exon of the FLCN
gene.
Conclusion:
While potential organ donors are generally healthy and asymptomatic individuals, incidental lesions can be
detected in the donor organ or other organs in the examination area during radiological imaging. Although most incidental
lesions are benign, important clinical conditions can be rarely observed, as in our case. Familial and syndromic conditions
should also be kept in mind in the presence of solid renal masses incidentally detected at a young age. To the best of our
knowledge, this is the first reported case of BHDS in English literature who was diagnosed incidentally on computed
tomography for being living liver donor.
Role of Contrast Enhancement and Corrected Attenuation Values of Renal Tumors in Predicting Renal Cell Carcinoma (RCC) Subtypes: Protocol for a Triphasic Multi-Slice Computed Tomography (CT) Procedure
