Yukawa Takuro, Fukazawa Takuya, Yoshida Masakazu, Morita Ichiro, Kato Katsuya, Monobe Yasumasa, Furuya Mitsuko, Naomoto Yoshio
Department of General Surgery, Kawasaki Medical School, Okayama, Japan.
Department of Diagnostic Radiology 2, Kawasaki Medical School, Okayama, Japan.
Am J Case Rep. 2016 Oct 26;17:788-792. doi: 10.12659/ajcr.899407.
BACKGROUND Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder clinically characterized by pulmonary cysts, spontaneous pneumothorax, renal cell cancer, and skin fibrofolliculomas. The disorder is caused by germline mutations in the FLCN gene. CASE REPORT A 56-year-old female was admitted to our hospital with a diagnosis of bilateral spontaneous pneumothorax. A computed tomography (CT) scan of the chest revealed bilateral multiple bullae predominantly located in the subpleural and mediastinal areas in the bilateral upper and lower lobes. Although she was cured by thoracic cavity drainage, she underwent resection of bilateral lung bullae because she had a prior history of right pneumothorax at 37- and 45-years of age. She had no signs of renal tumor but had fibrofolliculoma in her face and a family history of pneumothorax, we therefore suspected BHD syndrome. DNA sequence analyses determined that there was a two base pair deletion in exon 4 of the FLCN gene, confirming the diagnosis of BHD syndrome. CONCLUSIONS Here we report a case of BHD syndrome with a previously unreported FLCN mutation.
Birt-Hogg-Dubé（BHD）综合征是一种常染色体显性疾病，临床特征为肺囊肿、自发性气胸、肾细胞癌和皮肤纤维毛囊瘤。该疾病由FLCN基因的种系突变引起。病例报告：一名56岁女性因双侧自发性气胸入院。胸部计算机断层扫描（CT）显示双侧多发肺大疱，主要位于双侧上下叶的胸膜下和纵隔区域。尽管她通过胸腔引流治愈，但因37岁和45岁时曾有右侧气胸病史，她接受了双侧肺大疱切除术。她没有肾肿瘤的迹象，但面部有纤维毛囊瘤，且有气胸家族史，因此我们怀疑为BHD综合征。DNA序列分析确定FLCN基因外显子4有两个碱基对缺失，证实了BHD综合征的诊断。结论：我们在此报告一例具有先前未报道的FLCN突变的BHD综合征病例。
