A 55-year-old male who is a known post operative case of chromophobe renal cell carcinoma on follow up.
Findings
Axial and coronal CT images of chest reveals multiple thin-walled cysts of varying size, shape in both lungs, predominantly in lower lungs. Pleural thickening and subpleural fibrotic changes are also seen in right lower lobe. Axial and coronal images of abdomen reveal non-visualized right kidney consistent with post-operative status.
Diagnosis
Birt-Hogg-Dubé syndrome
Summary
Birt-Hogg-Dubé syndrome is an autosomal dominant, multisystem disorder caused by a mutation in the folliculin gene. This inherited disease is characterized by cutaneous lesions, renal tumors, cystic lung disease, and spontaneous pneumothorax. Skin lesions include fibrofolliculomas, trichodiscomas, and acrochordon. MRI of the kidneys is recommended every 3 years to exclude the known propensity for the development of chromophobe cell cancer and oncocytomas in these patients.
Differential diagnosis
Lymphangioleiomyomatosis (LAM): Cysts of Birt-Hogg-Dubé syndrome usually vary in size and shape and are lower lung predominant in distribution, whereas the cysts in lymphangioleiomyomatosis typically are more uniform in size, round, and diffuse in distribution.
Further reads
- Agarwal, P. P., Gross, B. H., Holloway, B. J., Seely, J., Stark, P., & Kazerooni, E. A. (2011). Thoracic CT findings in Birt-Hogg-Dube syndrome. AJR. American journal of roentgenology, 196(2), 349–352. https://doi.org/10.2214/AJR.10.4757
- Ghosh, S., & Farver, C. F. (2022). Birt-Hogg-Dubé Syndrome. Radiology, 302(3), 514. https://doi.org/10.1148/radiol.2021211972
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