Slideshow
-
Slide
Computed tomography scans showing bilateral enhancing renal masses that proved to be oncocytomas upon left robotic partial nephrectomy x 4.
-
Slide
Computed tomography scans showing bilateral enhancing renal masses that proved to be oncocytomas upon left robotic partial nephrectomy x 4.
-
Slide
Computed tomography scans showing bilateral enhancing renal masses that proved to be oncocytomas upon left robotic partial nephrectomy x 4.
-
Slide
Computed tomography scans showing bilateral enhancing renal masses that proved to be oncocytomas upon left robotic partial nephrectomy x 4.
A 47-year-old woman presented with synchronous multifocal bilateral enhancing renal masses. She reported having had intervention for pneumothorax some 20 years previously. Over the last decade she noted development of small papules on face and neck.
Submit your diagnosis to see full explanation.
REFERENCES
- Houweling AC, Gijezen LM, Jonker MA,et al. Renal cancer and pneumothorax risk in Birt-Hogg- Dube ́ syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer 2011;105:1912-1919.
- Schmidt LS, Linehan WM. Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome. Nat Rev Urol 2015; doi: 10.1038/nrurol.2015.206.
Answer: C
The patient’s presentation is consistent with Birt-Hogg-Dubé (BHD) syndrome. Approximately 10%-15% of such patients exhibit renal neoplasms, with oncocytic tumors and chromophobe renal cell carcinomas being the most common. Some 30% of BHD patients will suffer from spontaneous rupture of pulmonary cysts that result in pneumothorax at some point in their life. Cutaneous fibrofolliculomas are a key finding in patients with BHD. Germline abnormality in the folliculin gene is felt to be the culprit.
This case was prepared by Alexander Kutikov, MD, of Fox Chase Cancer Center in Philadelphia.
QUESTION
