Pulmonary Lesions Associated with BHD Syndrome.
Maria P Vargas, Darryl Carter, Maria J Merino. NCI/NIH, Bethesda, MD
Background: Birt-Hogg-Dube (BHD) syndrome is a rare inherited disorder characterized by cutaneous lesions, increased risk of renal neoplasms and incidence of spontaneous pneumothorax. The characteristic skin lesion is the fibrofolliculoma; trichodiscomas and skin tags are also associated with the syndrome. Renal neoplasms observed in these patients include oncocytic hybrid tumors, chromophobe and clear cell carcinomas. Clinical evaluation of the patients have revealed that pulmonary lesions are commonly seen in this syndrome.
Design: Thirteen patients known to be members of BHD families were known to have lung lesions. We here report the pathologic features of the pulmonary lesions in 6 of these patients.
Results: They were 2 females and 4 males with a mean age of 55 years (range 32 -72 years). Two had significant smoking history. All patients had biopsy proven fibrofolliculomas. Two patients had renal tumors, one had a hybrid tumor and a chromophobe RCC, the other one has been kept under surveillance due to small and stable renal lesion. Four patients had history of prior spontaneous pneumothorax. Three presented with recurrent pneumothorax. Two asymptomatic patients were discovered to have pulmonary masses during routine radiologic studies.
All 6 patients had pulmonary changes consistent with emphysema. Two were centriacinar, one was mixed centriacinar and panacinar and three were panacinar emphysema. Five patients had subpleural blebs and cysts with a mean diameter of 2.75 cm ranging from 0.8 to 6.5 cm. They were located in the lower or middle lobes. The cysts had a delicate fibrous wall lined by a layer of pneumocytes. Two cases, with history of prior pneumothorax, had associated fibrinous and chronic pleuritis. Two patients had pulmonary malignancies; Adenocarcinoma Mixed Cell Type acinar, micropapillary and bronchioloalveloar, and Squamous Cell Carcinoma. The Adenocarcinoma was stage IA pT1aN0Mx, found before producing symptoms. The patient with Squamous Cell Carcinoma died of the disease. One patient had Necrotizing Granulomas with fungal organisms suggestive of Histoplasma Capsulatum, forming a nodule 2.5 cm in diameter, and pulmonary changes consistent with barotrauma.
Conclusions: Pulmonary cysts, bullae and ruptured blebs are a common finding in patients with BHD syndrome.
Wednesday, March 2, 2011 9:30 AM
Poster Session V # 266, Wednesday Morning