A 68‐year‐old African American man with a medical history of gastric carcinoma status post resection and history of left‐sided spontaneous pneumothorax was admitted to the hospital with gross hematuria for 1 day. He reported a 20‐pound weight loss over the preceding 3 months. Physical examination revealed a left upper quadrant surgical scar. Rest of the examination was unremarkable. Laboratory data revealed a hemoglobin of 11.0 gm/dL, MCV of 84, platelet count of 153,000/μl, white blood cell count of 4900/μl, blood urea nitrogen of 13 mg/dL, creatinine of 1.2 mg/dL, prothrombin time of 14.5 seconds, total protein of 6.6 g/dL, and albumin of 3.5 g/dL. Urinalysis showed red, turbid urine with large blood and urine red cells > 300. A CT scan of the abdomen was ordered as a part for the workup for hematuria. This disclosed a heterogeneous mass in the upper pole of the left kidney measuring 4.3 × 3.5 × 5.5 cm with a moderate left pneumothorax. A CT of the chest revealed a left‐sided pneumothorax involving 20% of left hemithorax. Subsequently, the patient underwent left radical nephrectomy, and the tissue was sent for pathology evaluation. Pathology report revealed a papillary renal cell carcinoma (type 2) with rare psammoma body and areas of clear cell features 7.0 × 4.0 × 2.5 cm confined to the left kidney. An area of ectopic pancreatic tissue was also found.
Birt‐Hogg Dube (BHD) syndrome is a well‐documented inherited syndrome caused by mutation of the Folliculin gene. Patients with the Folliculin gene mutation can have renal cell carcinoma (variable types), colorectal tumors, endo‐metrial carcinoma, spontaneous pneumothorax, pulmonary cysts and fibrofolliculomas. In our case, the patient developed a spontaneous pneumothorax 6 months in advance of his current presentation of papillary renal cell carcinoma. Gene testing, though, was not done to confirm the BHD gene mutation. Our patient's clinical presentation, in addition to his previous history of spontaneous pneumothorax and gastric carcinoma, coupled with the finding of renal cell carcinoma, wase so typical that it was difficult to miss such an association.
We report this case to illustrate that spontaneous pneumothorax in patients within the appropriate age group should be evaluated with further testing for the BHD gene and worked up for renal cell carcinoma and/or other gastrointestinal tumors. Hospitalist must have a high index of suspicion of this condition, as early detection can prevent delay in diagnosis, decrease morbidity and mortality, and limit unnecessary use of health care resources.
A. Kumar ‐ none; K. Koduru ‐ none; T. Hamieh ‐ none; M. Maroules ‐ none