EJMCR |

Case Series

Published: Jun 29, 2025 | DOI: 10.24911/ejmcr.9-1901

Decoding the missing link in Cystic Lung Disease: A Unique Case Series of BHD Syndrome

Authors: Mohd Imran Shamsi , Papia Mondal , Amitabha Sengupta , Sudipta Pandit

Authors

Mohd Imran Shamsi

Department of Pulmonary Medicine, Institute of Post Graduate Medical Education and Research (IPGME&R) 244, A.J.C. Bose Road, Kolkata 700 020, India

ORCID

Papia Mondal

Department of Pulmonary Medicine, Institute of Post Graduate Medical Education and Research (IPGME&R) 244, A.J.C. Bose Road, Kolkata 700 020, India

Amitabha Sengupta

Department of Pulmonary Medicine, Institute of Post Graduate Medical Education and Research (IPGME&R) 244, A.J.C. Bose Road, Kolkata 700 020, India

Sudipta Pandit

Department of Pulmonary Medicine, Institute of Post Graduate Medical Education and Research (IPGME&R) 244, A.J.C. Bose Road, Kolkata 700 020, India

Publication History

Received: February 19, 2025

Accepted: May 09, 2025

Published: June 29, 2025

Abstract

Background: Birt-Hogg-Dubé syndrome (BHDS) is a very rare autosomal dominant inherited disease caused by mutations in the folliculin gene, characterized by a triad of clinical manifestations involving the skin, lungs, and kidneys.
Cases Presentation: We present a case series of four cases of BHDS with diverse phenotypic spectrum. Case 1 is a 48-year-old female who presented with right-sided hydropneumothorax and a typical triad of BHDS-cystic lung disease, fibrofolliculoma, and renal mass. Case 2 is a 31-year-old young male who presented with left-sided pneumothorax and cystic lung disease with no other systemic involvement. Case 3 is a 43-year-old female who presented with recurrent left-sided pneumothorax and cystic lung disease with no other systemic clinical manifestations. This particular case had a family history of pneumothorax. Case 4 is a 69-year-old female who presented with a chronic cough and right middle lobe pneumonia. She had typical nodular and popular skin lesions over the forehead and computed tomography-thorax showing bilateral cysts of varying size.
Conclusion: This case series highlights the diverse clinical spectrum of BHDS, emphasizing the importance of early recognition of this condition in patients with recurrent pneumothorax, genetic confirmation of the disease, and multidisciplinary management, including nephrology and pulmonology inputs to prevent complications such as recurrent pneumothorax and renal malignancies. Further research on genotype-phenotype correlation in BHDS is needed to optimize the diagnosis and treatment.

Keywords: Birt-Hogg-Dube syndrome (BHDS), folliculin (FLCN) gene, renal cell carcinoma (RCC).

Pubmed Style

Mohd Imran Shamsi, Papia Mondal, Amitabha Sengupta, Sudipta Pandit. Decoding the missing link in Cystic Lung Disease: A Unique Case Series of BHD Syndrome. EJMCR. 2025; 29 (June 2025): -. doi:10.24911/ejmcr.9-1901

Web Style

Mohd Imran Shamsi, Papia Mondal, Amitabha Sengupta, Sudipta Pandit. Decoding the missing link in Cystic Lung Disease: A Unique Case Series of BHD Syndrome. https://ejmcr.com/articles/1901 [Access: June 29, 2025]. doi:10.24911/ejmcr.9-1901

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Mohd Imran Shamsi, Papia Mondal, Amitabha Sengupta, Sudipta Pandit. Decoding the missing link in Cystic Lung Disease: A Unique Case Series of BHD Syndrome. EJMCR. (2025), [cited June 29, 2025]; 29 (June 2025): -. doi:10.24911/ejmcr.9-1901

Harvard Style

Mohd Imran Shamsi, Papia Mondal, Amitabha Sengupta, Sudipta Pandit (2025) Decoding the missing link in Cystic Lung Disease: A Unique Case Series of BHD Syndrome. EJMCR, 29 (June 2025): -. doi:10.24911/ejmcr.9-1901

Chicago Style

Mohd Imran Shamsi, Papia Mondal, Amitabha Sengupta, Sudipta Pandit. "Decoding the missing link in Cystic Lung Disease: A Unique Case Series of BHD Syndrome." 29 (2025), -. doi:10.24911/ejmcr.9-1901

MLA (The Modern Language Association) Style

Mohd Imran Shamsi, Papia Mondal, Amitabha Sengupta, Sudipta Pandit. "Decoding the missing link in Cystic Lung Disease: A Unique Case Series of BHD Syndrome." 29.June 2025 (2025), -. Print. doi:10.24911/ejmcr.9-1901

APA (American Psychological Association) Style

Mohd Imran Shamsi, Papia Mondal, Amitabha Sengupta, Sudipta Pandit (2025) Decoding the missing link in Cystic Lung Disease: A Unique Case Series of BHD Syndrome. , 29 (June 2025), -. doi:10.24911/ejmcr.9-1901