Open AccessWhen it starts in the skin and goes to the lungs, where does it stop?
Author(s) -
Catarino Ferro Ana Rita,
Ferreira Campos Ana Margarida
Publication year - 2022
Publication title -
respirology case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.304
H-Index - 9
ISSN - 2051-3380
DOI - 10.1002/rcr2.1043
Subject(s) - birt–hogg–dubé syndrome , medicine , pneumothorax , subcutaneous emphysema , lung , lung cancer , disease , dermatology , pathology , surgery
Key message 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.