Ontology highlight
ABSTRACT:
SUBMITTER: Li T
PROVIDER: S-EPMC5220607 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Li Teng T Ning Xianghui X He Qun Q Gong Kan K
Chinese journal of cancer 20170109 1
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 n ...[more]