Multiple/bilateral renal tumors in patients with Birt-Hogg-Dubé syndrome.

OBJECTIVE

To describe our findings in four patients with multiple/bilateral renal cell carcinoma (RCC) and Birt-Hogg-Dubé (BHD) syndrome.

PATIENTS AND METHODS

A series of four patients with BHD syndrome and RCC is analyzed. Patient charts were reviewed for age, sex, presentation, various clinical manifestations, imaging, management and outcome.

RESULTS

Patients included 2 males and 2 females. Age ranged from 40 to 65 years (mean 56 years). The interval between the diagnosis of skin lesions characteristic of the disease and the development of renal tumors ranged between 1 and 35 years. Three of the patients had bilateral renal tumors (2 synchronous and one metachronous), one patient had multiple renal tumors in one kidney. In one patient the renal mass was diagnosed with a screening CT scan of the abdomen after the diagnosis of BHD syndrome. One patient had associated spontaneous pneumothorax and thyroid tumor. Only one of the 4 patients had prior family history of BHD syndrome. Renal tumors were clear cell type in 3 patients, and chromophobe tumor in one. Tumor size ranged from 2 to 9 cm.

CONCLUSION

BHD syndrome is associated with multiple diseases and tumors. We describe four patients with BHD syndrome with multiple or bilateral RCC. Two of the patients were asymptomatic. A high index of suspicion should be present in patients who present with the characteristic skin lesions of BHD syndrome and screening for the presence of renal tumors should be done in those patients. Long term follow up is necessary after treating renal tumors in these patients.