Familial pulmonary cysts: A clue to diagnose Birt –Hogg–Dubé syndrome: A case report and literature review

This report details the case of a 56-year-old female non-smoker diagnosed with multiple pulmonary cysts, presenting with a history of recurrent spontaneous pneumothorax. A computed tomography (CT) scan of her daughter revealed similar pulmonary cysts, raising suspicion of BHD. Further abdominal enhanced CT revealed a left renal tumour and cutaneous fibrofolliculomas on her daughter's neck. Consequently, whole-exome sequencing confirmed anFLCN germline mutation in the patient and three relatives, establishing a diagnosis of BHD. This case highlights the importance of familial pulmonary cysts as a clue for diagnosing BHD, providing crucial insights into comparable clinical presentations.
Source: Respirology Case Reports - Category: Respiratory Medicine Authors: Tags: CASE REPORT Source Type: research