This clinical case reports a rare disease-Birt-Hogg-Dubé Syndrome-characterized by skin lesions and multiple lung cysts. Because of its rarity, BHDS is likely undiagnosed and mistaken for primary spontaneous pneumothorax or emphysema. An early diagnosis is important to set up screening for renal cancer in patients and affected relatives.
Keywords: Birt‐Hogg‐Dubé syndrome; fibrofolliculomas; pneumothorax; renal cancer.
© 2022 The Authors. Respirology Case Reports published by John Wiley & Sons Australia, Ltd on behalf of The Asian Pacific Society of Respirology.