A special case study of Birt–Hogg–Dubé syndrome

Abstract Birt-Hogg-Dubé (BHD) syndrome, an autosomal dominantly inherited disorder, manifests primary through triad clinical features: pulmonary cysts, pneumothorax, fibrofolliculomas, and renal tumors. While respiratory symptoms like spontaneous pneumothorax often constitute initial clinical presentations, but the majority of patients remain clinically asymptomatic. The molecular basis of this condition stems from germline mutations in the folliculin (FLCN) gene (chromosomal locus 17p11.2). Genetic analyses have identified heterogeneous FLCN mutations spanning the entire coding region, including frameshift insertions/deletions and pathogenic nonsense variants. More than 600 BHDS families have been reported so far. BHD syndrome research is less frequent in Chinese patients than in European and American patients. This article delineates a novel Chinese BHDS case with molecular confirmation, supplemented by a systematic review of existing literature to address current knowledge gaps.