Department of Pulmonary Medicine, TN Medical College and BYL Nair Hospital, Mumbai, India.
Adv Respir Med. 2021;89(1):55-59. doi: 10.5603/ARM.a2020.0180. Epub 2021 Jan 20.
Birt-Hogg-Dubé syndrome (BHDS) is an uncommon autosomal dominant syndrome. It is also known as Hornstein-Knickenberg syndrome. It is an inherited disorder culminating in mutations in folliculin coding gene (FLCN). The clinical exhibitions of the syn-drome are multi-systemic, comprising of a constellation of pulmonary, dermatologic and renal system manifestations. The most common presentations include fibrofolliculomas, renal cell carcinomas, lung cysts and spontaneous pneumothorax. The treatment is conservative with regular monitoring of the renal and lung parameters. Fibrofolliculomas may require surgical excision and recurrent events of pneumothorax may warrant pleurodesis. We reported a case series of 2 patients presenting with symptoms of progressive breathlessness along with dermatological manifestations and subsequently showing radiological manifestations of Birt-Hogg-Dubé syndrome in the form of lung cysts.
Birt-Hogg-Dubé 综合征（BHDS）是一种罕见的常染色体显性遗传综合征。它也被称为 Hornstein-Knickenberg 综合征。这是一种遗传性疾病，最终导致滤泡素编码基因（FLCN）的突变。该综合征的临床表现为多系统，包括一系列肺、皮肤和肾脏系统表现。最常见的表现包括纤维毛囊瘤、肾细胞癌、肺囊肿和自发性气胸。治疗方法是保守的，定期监测肾脏和肺部参数。纤维毛囊瘤可能需要手术切除，反复发作的气胸可能需要胸膜固定术。我们报告了 2 例患者的病例系列，这些患者表现为进行性呼吸困难以及皮肤表现，随后表现为肺囊肿形式的 Birt-Hogg-Dubé 综合征的放射学表现。
