A Case of Spontaneous Pneumothorax: Don't Miss Birt-Hogg Dubé Syndrome!‎

  • Authors

    • Faouzia Kambouche Department of Pulmonology, university hospital center of Mostaganem, faculty of medicine of Mostaganem –Algeria
    • Ikhlas Belabbas Department of Pulmonology, university hospital center of Mostaganem, faculty of medicine of Mostaganem –Algeria
    https://doi.org/10.14419/p7304464

    Received date: October 11, 2025

    Accepted date: November 24, 2025

    Published date: December 24, 2025

  • Birt-Hogg-Dubé Syndrome; Cystic Lung Disease; FLCN Gene

  • Abstract

    Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant multiorgan systemic disorder ‎manifesting as cutaneous fibrofolliculomas, lung cysts with or without spontaneous pneumothorax, ‎and renal tumors. It results from mutation of the gene located on the short arm of chromosome 17 ‎‎(17p11.2). The gene codes for the protein folliculin, which is believed to be an oncogene ‎suppressor protein. we report a case of a 66-year-old male who was suspected to have the ‎diagnosis of BHDS based on recurrent pneumothorax , family history of pneumothorax and ‎characteristic features of lung cysts on the Chest CT, subsequently confirmed by genetic testing.

  • References

    1. Birt AR, Hogg GR, Dube WJ, Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons : Arch Dermatol, 1977 ; 113 ; 1674-77, pmid: 596896 https://doi.org/10.1001/archderm.1977.01640120042005.
    2. Rashmi K, Arbind D, Patanjali C, Kunal G: Brit Hogg Dube syndrome - a rare disease entity with review of literature. J Clin Case Rep. 2012, 2:175.
    3. Leivaditis V, Papatriantafyllou A, Koletsis E, et al.: A rare case of spontaneous pneumothorax recurrence 30 years after surgery in a patient with Birt-Hogg-Dube syndrome: case presentation and short review of the literature. Acta Inform Med. 2023, 31:146-50. https://doi.org/10.5455/aim.2023.31.146-150.
    4. Gupta N, Kopras EJ, Henske EP, et al. Spontaneous Pneumothoraces in Patients with Birt–Hogg–Dubé Synd rome. Ann Am Thorac Soc.2017 ;14(5):706-713. https://doi.org/10.1513/AnnalsATS.201611-886OC.

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  • How to Cite

    Kambouche, F. ., & Belabbas, I. . (2025). A Case of Spontaneous Pneumothorax: Don’t Miss Birt-Hogg Dubé Syndrome!‎. International Journal of Medicine, 13(2), 9-10. https://doi.org/10.14419/p7304464