Abstract
Birt–Hogg–Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, 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.946-947delAG in exon 9 and c.770-772delCCT in exon 7). Both of them had RCC and spontaneous pneumothorax without fibrofolliculomas. 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).
Highlights
Birt–Hogg–Dubé syndrome (BHD, OMIM #135150) is a rare autosomal dominant hereditary disease first described by Birt et al in 1977 [1]
This syndrome is characterized by the presence of fibrofolliculomas (FFs), pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC) [2]
Germline mutations in the folliculin (FLCN) gene mapped to chromosome 17p11.2 were identified in BHD patients in 2002 [3]
Summary
Birt–Hogg–Dubé syndrome (BHD, OMIM #135150) is a rare autosomal dominant hereditary disease first described by Birt et al in 1977 [1]. This syndrome is characterized by the presence of fibrofolliculomas (FFs), pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC) [2]. Germline mutations in the folliculin (FLCN) gene mapped to chromosome 17p11.2 were identified in BHD patients in 2002 [3].
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