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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Published on: August 20, 2019

Birt-Hogg-Dubé Syndrome.

Tej M Patel¹, Michael A Beal², Gabriel Schroeder¹

¹Division of Pulmonary and Critical Care Medicine, Washington University School of Medicine, Campus Box 8052, 4523 Clayton Avenue, St Louis, MO 63110, USA.

Clinics in Chest Medicine

|October 19, 2025

Summary

Birt-Hogg-Dubé syndrome, a rare genetic disorder, presents with lung cysts, kidney tumors, and skin lesions. Early diagnosis and management are crucial for patient outcomes.

Keywords:

BHD Chromophobe renal tumors Fibrofolliculomas Folliculin Oncocytic renal tumors Pneumothorax Pulmonary cysts Trichodiscomas

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Area of Science:

Genetics
Oncology
Pulmonology

Background:

Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant genetic disorder.
It results from mutations in the folliculin (FLCN) gene, affecting cellular growth and metabolism.
BHD syndrome is associated with a characteristic triad of clinical manifestations.

Purpose of the Study:

To summarize the key features of BHD syndrome.
To outline diagnostic approaches.
To describe current management strategies.

Main Methods:

Clinical examination findings.
Radiographic imaging interpretation.
Histopathological analysis.
Genetic testing for FLCN mutations.

Main Results:

Clinical triad includes pulmonary cysts (risk of pneumothorax), renal tumors (mixed subtypes), and cutaneous fibrofolliculomas.
Diagnosis requires a combination of clinical, imaging, histopathological, and genetic data.
Management involves pleurodesis for pneumothorax, surveillance for renal tumors, and family screening.

Conclusions:

BHD syndrome diagnosis is complex, necessitating a multidisciplinary approach.
Prompt intervention for pneumothorax and vigilant renal tumor surveillance are essential.
Genetic testing and family screening are vital components of comprehensive BHD syndrome management.