Goto Yuki, Tobino Kazunori, Munechika Miyuki, Yoshimatsu Yuki, Ide Hiromi, Tsuruno Kosuke
Respiratory Medicine Iizuka Hospital Iizuka Japan.
Respirol Case Rep. 2020 Mar 11;8(4):e00549. doi: 10.1002/rcr2.549. eCollection 2020 May.
An 89-year-old woman with small papules on her face presented to our hospital complaining of progressive dyspnoea. Chest computed tomography (CT) showed bilateral multiple lung cysts, a nodular opacity in the right lower lobe, and bilateral pleural effusion. She was diagnosed with adenocarcinoma. Her son, a 65-year-old man, also had bilateral basally located lung cysts and a past medical history of spontaneous pneumothorax. He had multiple papules on the face and neck, which were pathologically diagnosed as fibrofolliculomas. We considered these cases to be Birt-Hogg-Dubé syndrome (BHDS). () gene mutations that may be tumour suppressive are suspected to be causative of this syndrome. FLCN dysfunction might lead to the development of various types of tumours other than renal tumours.
一名89岁面部有小丘疹的女性因进行性呼吸困难前来我院就诊。胸部计算机断层扫描（CT）显示双侧多发肺囊肿、右下叶结节状混浊及双侧胸腔积液。她被诊断为腺癌。她65岁的儿子也有双侧肺底部囊肿，既往有自发性气胸病史。他的面部和颈部有多个丘疹，经病理诊断为纤维毛囊瘤。我们认为这些病例为Birt-Hogg-Dubé综合征（BHDS）。怀疑可能具有肿瘤抑制作用的（）基因突变是该综合征的病因。卵泡抑素功能障碍可能导致除肾肿瘤以外的各种类型肿瘤的发生。
