Birt-Hogg-Dubé综合症是一种常染色体显性遗传的遗传性皮肤病，其特征是毛囊蛋白酶素（FLCN）基因突变。生发素的过度抑制/激活可能导致皮肤、肾脏和肺脏的肿瘤病变；与正常人群相比，他们可能更容易发生自发性气胸。一位38岁的男性患者因为COVID-19感染恢复后三周出现咳血，他曾患支气管哮喘。进行了胸部CT检查，检查结果显示左下叶有气囊。身体检查显示有胸部皮肤病变，并进行了皮肤活检。结果符合纤维毛囊瘤。提出了不同的诊断。怀疑与皮肤病变有关的遗传性疾病。请求进行包括BRCA1、BRCA2、TP53和FLCN基因的多基因面板检测，结果显示FLCN基因突变为杂合状态，被分类为Birt-Hogg-Dubé综合症的病理特征。患者目前正在接受临床随访，同时为亲属请求遗传咨询。

Birt-Hogg-Dubé syndrome is a genodermatosis of autosomal dominant inheritance characterized by mutations in the folliculin (FLCN) gene. There is an inappropriate inhibition/activation of a protein, the foliculin, which may cause tumor lesions in skin, renal and lung lesions; they could have more risk of developing pneumothorax compared to the normal population. A 38-year-old male patient with bronchial asthma who consulted for hemoptysis three weeks after recovery from COVID-19 infection. A chest tomography was requested, showing an air cyst in the left lower lobe. Physical examination shows evidence of thoracic skin lesions which a skin biopsy was performed on. The results were compatible with fibrofolliculoma. Differential diagnoses were proposed. A genetic disorder associated with skin lesions was suspected. A multi-genetic panel that includes BRCA1, BRCA2, TP53 and FLCN genes was requested, which reported the mutation of the FLCN gene in heterozygosis classified as pathognomonic of Birt-Hogg-Dubé syndrome. Patient is currently under clinical follow-up while genetic counseling was requested for relatives.