Lakhani Dhairya A, Winkler Lana, Lisle Mark
Department of Radiology, West Virginia University, Morgantown, WV 26506.
Radiol Case Rep. 2021 Nov 18;17(1):250-253. doi: 10.1016/j.radcr.2021.10.052. eCollection 2022 Jan.
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant multiorgan systemic disorder manifesting as cutaneous fibrofolliculomas, lung cysts with or without spontaneous pneumothorax, and renal tumors. It results from mutation of the gene located on the short arm of chromosome 17 (17p11.2). The gene codes for the protein folliculin, which is believed to be an oncogene suppressor protein. This syndrome is often underdiagnosed. Presence of lung cysts on chest CT should prompt inclusion of BHDS in the differential diagnosis, since these findings may develop earlier than other manifestations. There are key imaging characteristics of pulmonary cysts on CT of the chest which can suggest the diagnosis of BHDS and help in early detection and prompt screening for renal tumors. The main concern with BHDS is the increased risk of renal carcinoma. Here, we report a case of a 59-year-old male who was suspected to have the diagnosis of BHDS based on characteristic features of lung cysts on the Chest CT, subsequently confirmed by genetic testing.
Birt-Hogg-Dubé综合征（BHDS）是一种罕见的常染色体显性多器官系统性疾病，表现为皮肤纤维毛囊瘤、伴有或不伴有自发性气胸的肺囊肿以及肾肿瘤。它是由位于17号染色体短臂（17p11.2）上的基因突变引起的。该基因编码卵泡抑素蛋白，据信它是一种抑癌蛋白。这种综合征常常诊断不足。胸部CT上出现肺囊肿应促使在鉴别诊断中考虑BHDS，因为这些表现可能比其他症状出现得更早。胸部CT上肺囊肿有一些关键的影像学特征，可提示BHDS的诊断，并有助于早期发现和及时筛查肾肿瘤。BHDS的主要问题是肾癌风险增加。在此，我们报告一例59岁男性病例，该患者基于胸部CT上肺囊肿的特征被怀疑患有BHDS，随后经基因检测得以确诊。
