Birt-Hogg-Dube syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation.

ABSTRACT:

Background

The Birt-Hogg-Dubé (BHD) syndrome is a very rare autosomal dominant form of genodermatosis caused by germline mutations in the folliculin (FLCN) gene, which is mapped to the p11.2 region in chromosome 17. BHD commonly presents cutaneous fibrofolliculomas, pulmonary cysts, renal cell carcinoma, and recurrent pneumothoraxes. The disease is easily ignored or misdiagnosed as pneumothorax, pulmonary lymphangiomyomatosis (LAM), or emphysema. Follow-up and guidelines for managing recurrent pneumothoraxes in these patients are lacking.

Case presentation

We reported the case of a 56-year-old Chinese woman who presented skin lesions, multiple lung bubblae, recurrent pneumothoraxes, thyroid nodules, and pulmonary inflammatory pseudotumors (PITs). The patient had a family his

SUBMITTER: Hao S 

PROVIDER: S-EPMC5320703 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature