Tzilas Vasilios, Sgouros Dimitrios, Almpanis Zannis, Bouros Demosthenes, Tzouvelekis Argyrios
First Academic Department of Respiratory Medicine, Interstitial Lung Diseases Unit, Hospital for Diseases of the Chest, "Sotiria", Medical School, National and Kapodistrian University of Athens, Athens, Greece.
First Department of Dermatology-Venereology, Andreas Sygros Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.
Respir Med Case Rep. 2020 May 6;30:101081. doi: 10.1016/j.rmcr.2020.101081. eCollection 2020.
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited disease caused by mutations in the folliculin (FLCN) gene. It is characterized by lung cysts, skin fibrofolliculomas and an increased risk for the development of renal cancer, especially chromophobe. Lung cysts in the context of BHDS are typically lower lobe predominant, paramediastinal, in relation to the fissures and often elliptical shaped. Skin manifestations can easily go unnoticed. Respiratory physicians need to have a high degree of vigilance as they can be the first to suspect the disease in the setting of diffuse cystic lung disease. Meticulous skin examination and referral to a dermatologist is of utmost importance as it can establish the diagnosis in the least invasive way. Correct diagnosis is crucial as it may allow for genetic counseling to the affected family and the implementation of a monitoring strategy for early detection of renal cancer.
Birt-Hogg-Dubé综合征（BHDS）是一种由卵泡抑素（FLCN）基因突变引起的罕见常染色体显性遗传病。其特征为肺囊肿、皮肤纤维毛囊瘤以及肾癌尤其是嫌色细胞癌发生风险增加。BHDS患者的肺囊肿通常以两下肺为主，位于纵隔旁，与肺裂相关，且常呈椭圆形。皮肤表现很容易被忽视。呼吸内科医生需要高度警惕，因为在弥漫性囊性肺疾病的情况下，他们可能是最先怀疑该病的人。细致的皮肤检查并转诊至皮肤科医生至关重要，因为这可以以侵入性最小的方式确立诊断。正确诊断至关重要，因为这可能有助于为受影响的家庭提供遗传咨询，并实施监测策略以早期发现肾癌。
