Birt Hogg Dube Syndrome (BHDS)

Abstract

SESSION TITLE: Sarcoidosis and Cystic Lung Disease SESSION TYPE: Affiliate Case Report Poster PRESENTED ON: Tuesday, October 31, 2017 at 01:30 PM - 02:30 PM INTRODUCTION: BHDS is a rare pulmonary cystic disease associated with pulmonary cysts in 80-90% cases. It causes spontaneous pneumothorax in 35% cases and recurrence rate is 75%. It is an autosomal dominant genetic disorder, incidence is unknown and approximately 200 families have been identified worldwide. CASE PRESENTATION: A 61 year-old nonsmoker man admitted to the hospital with sudden onset chest pain and shortness of breath. Initial chest radiograph showed right apical pneumothorax which resolved with chest tube placement. CT chest showed multiple bilateral pulmonary cysts and incidental finding of two complex right renal masses. Patient had a history of spontaneous pneumothorax (treated conservatively 25 years ago) and skin basal cell carcinoma. Family history was significant for brother with pulmonary cysts and renal cell carcinoma. Further work up revealed positive folliculin (FLCN) gene mutation confirming BHDS. Patient was discharged home in stable condition and is being followed in pulmonary and urology clinic as he is at risk of recurrence of pneumothorax and lifelong risk of renal cell cancer. DISCUSSION: A BHDS is characterized by hallmark triad of cutaneous lesions, pulmonary cysts and renal cell tumors. It is caused by germline mutation in FLCN gene on short arm of chromosome 17. It is an underdiagnosed entity and physicians should consider BHDS in patients presenting with personal or family history of pneumothoaces, particularly if skin lesions or renal tumors are present. Genetic testing for FLCN gene mutation not only confirm the diagnosis but also allows to screen at risk asymptomatic family members. Pulmonary cysts are adult onset, present in various sizes with basilar and subpleural predominance, and can rupture causing spontaneous pneumothorax. Management of pulmonary manifestations focuses on the treatment of pneumothorax. CONCLUSIONS: We present a case of BHDS, diagnosed in a patient with recurrent spontaneous pneumothorax and renal mass. BHDS has an increased risk of recurrent pneumothorax and additional studies are needed to understand the exact mechanism underlying the pulmonary cyst formation. Role of early pleurodesis and surgery to prevent recurrent pneumothorax in compare to conservative therapy with first episode of pneumothorax in BHDS patients is not clear. Reference #1: Gupta, Nishant, MD; Sunwoo, Bernie Y., MBBS; Kotloff, Robert M., MD; Clinics in Chest Medicine, 2016-09-01, Volume 37, Issue 3. Pages 475-486. DISCLOSURE: The following authors have nothing to disclose: Mohammedumer Nagori, Rafid Fadul No Product/Research Disclosure Information