Respirology Case Reports (Nov 2022)

When it starts in the skin and goes to the lungs, where does it stop?

  • Ana Rita Catarino Ferro,
  • Ana Margarida Ferreira Campos

DOI
https://doi.org/10.1002/rcr2.1043
Journal volume & issue
Vol. 10, no. 11
pp. n/a – n/a

Abstract

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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.

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