title: Birt-Hogg-Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation.
abstract: 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.
  
  
  
  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 history of pneumothoraxes and renal tumor. The BHD diagnosis was confirmed by genetic testing, which revealed a novel FLCN mutation in exon 14. Furthermore, the patient underwent a bullectomy because of recurrent pneumothorax 6 years ago.
  
  
  
  To our knowledge, the novel mutation in exon 14 and the manifestation of PIT in the present case have never been reported for BHD. The patient underwent a bullectomy previously with no relapse at the last follow-up before the preparation of this report, thereby suggesting that thoracotomy with bullectomy may be a possible therapeutic approach for some BHD patients with recurrent pneumothorax.
authors.affiliation: Department of Respiratory Medicine, Shandong Provincial Hospital affiliated to Shandong University, 324 Jingwu Road, Jinan, Shandong, 250021, China.
authors.forename: Shengyu
authors.initials: S
authors.lastname: Hao
authors.affiliation: Department of Respiratory Medicine, Shandong Provincial Hospital affiliated to Shandong University, 324 Jingwu Road, Jinan, Shandong, 250021, China.
authors.forename: Fei
authors.initials: F
authors.lastname: Long
authors.affiliation: Department of Respiratory Medicine, Shandong Provincial Hospital affiliated to Shandong University, 324 Jingwu Road, Jinan, Shandong, 250021, China.
authors.forename: Fenglan
authors.initials: F
authors.lastname: Sun
authors.affiliation: Department of Respiratory Medicine, Shandong Provincial Hospital affiliated to Shandong University, 324 Jingwu Road, Jinan, Shandong, 250021, China.
authors.forename: Teng
authors.initials: T
authors.lastname: Liu
authors.affiliation: Department of Respiratory Medicine, Shandong Provincial Hospital affiliated to Shandong University, 324 Jingwu Road, Jinan, Shandong, 250021, China.
authors.forename: Daowei
authors.initials: D
authors.lastname: Li
authors.affiliation: Department of Respiratory Medicine, Shandong Provincial Hospital affiliated to Shandong University, 324 Jingwu Road, Jinan, Shandong, 250021, China. docjiangshujuan@163.com.
authors.forename: Shujuan
authors.initials: S
authors.lastname: Jiang
mesh_terms: D058249:Birt-Hogg-Dube Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics*; D001768:Blister / Q000473:pathology; D005260:Female; D006801:Humans; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology*; D008875:Middle Aged; D009154:Mutation; D011030:Pneumothorax / Q000209:etiology / Q000601:surgery*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012008:Recurrence; D014057:Tomography, X-Ray Computed; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins
keywords: Birt–Hogg–Dubé syndrome; Lung bubblae; Mutation; Pneumothorax; Treatment