Birt–Hogg–Dubé(BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin(FLCN) gene, is characterized by the presence of ibrofolliculomas, pulmonary cysts, spontaneous pneumothorax...Birt–Hogg–Dubé(BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin(FLCN) gene, is characterized by the presence of ibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma(RCC). Few BHD syndrome cases have been reported in Asian countries, and cutaneous presentations are relatively rare in Asian patients. Asian BHD patients may be misdiagnosed due to their atypical manifestations. Here, we report two Chinese BHD patients with novel FLCN mutations(c.946-947 del AG in exon 9 and c.770-772 del CCT in exon 7). Both of them had RCC and spontaneous pneumothorax without ibrofolliculomas. In patients with RCC and pulmonary cysts but without cutaneous lesions, screening for mutations in the FLCN gene should be performed, especially for those with a family history of RCC or pulmonary cysts(pneumothorax).展开更多
基金supported by the National Natural Science Foundation of China(Grant Number:81172418)the Beijing Municipal Natural Science Foundation(Grant Number:7142160)
文摘Birt–Hogg–Dubé(BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin(FLCN) gene, is characterized by the presence of ibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma(RCC). Few BHD syndrome cases have been reported in Asian countries, and cutaneous presentations are relatively rare in Asian patients. Asian BHD patients may be misdiagnosed due to their atypical manifestations. Here, we report two Chinese BHD patients with novel FLCN mutations(c.946-947 del AG in exon 9 and c.770-772 del CCT in exon 7). Both of them had RCC and spontaneous pneumothorax without ibrofolliculomas. In patients with RCC and pulmonary cysts but without cutaneous lesions, screening for mutations in the FLCN gene should be performed, especially for those with a family history of RCC or pulmonary cysts(pneumothorax).
