Pulmonary cystic disease associated with integumentary and renal manifestations

Katherine S. Cayetano, Timothy E Albertson, Andrew Chan

Research output: Contribution to journalArticlepeer-review


A 69-year-old man with multiple skin lesions on his face, neck and upper torso, which first appeared in the 3rd decade of his life, was admitted to our hospital. He had cystic changes in his lungs noted on chest computed tomography (CT) scanning, as well as a left kidney mass. This patient exhibited a rare complex of renal, cutaneous and pulmonary manifestations, eponymously named Birt-Hogg-Dube syndrome, with characteristic skin features (fibrofolliculomas, trichodiscomas and acrochordons). This syndrome is due to an autosomal dominant germ-line mutation of the folliculin (FLCN) gene located at chromosome 17p11.2. Diagnosis and differentiation from other disease complexes including the skin, kidneys and lungs are important in prognostication and management of potentially life-threatening complications such as renal cell carcinoma and pneumothoraces.

Original languageEnglish (US)
Pages (from-to)515-519
Number of pages5
JournalJournal of Biomedical Research
Issue number6
StatePublished - 2013


  • Birt-Hogg-Dube syndrome
  • Folliculin
  • Mutation
  • Pulmonary cystic disease

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)


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