Discussion
Diagnosis With Brief Discussion
- Diagnosis
- Birt-Hogg-Dube syndrome
- Radiologic Findings
- Figure 1. Chest posteroanterior radiograph shows pneumothorax in the right hemithorax.
Figure 2-4. In axial HRCT scans, cysts of various sizes and irregular shapes are observed predominantly in the medial and lower lung zones of both lungs.
- Brief Review
- Birt-Hogg-Dubé syndrome is a rare genetic condition characterized by distinctive clinical and radiologic features.
Clinical Features
1. Skin lesions: The most noticeable clinical feature. These include fibrofolliculomas, trichodiscomas, and acrochordons, typically developing in the third decade of life. They are often found on the face, neck, and upper torso.
2. Renal tumors: An increased risk of renal tumors, including oncocytomas and hybrid oncocytic/chromophobe tumors. These are often multiple and bilateral.
3. Pulmonary cysts and spontaneous pneumothorax: Patients may have lung cysts, which increase the risk of spontaneous pneumothorax.
4. Other Neoplasms: There is an increased risk of other types of tumors, including colorectal and thyroid cancers.
Radiologic Findings
1. Chest CT: Radiologically, lung cysts are a key finding, predominantly located in the lower and medial zones of the lungs. They are of various sizes and irregularly shaped.
2. Abdominal Imaging: Renal tumors may be identified through ultrasound, CT, or MRI. These tumors often present as hybrid lesions with features of both oncocytomas and chromophobe renal cell carcinoma.
3. Dermatological Examination: Skin lesions can be observed and diagnosed using dermatoscopy, though biopsy is often required for definitive diagnosis.
- References
- 1. Daccord, C., Good, J. M., Morren, M. A., Bonny, O., Hohl, D., & Lazor, R. (2020). Birt–hogg–dubé syndrome. European Respiratory Review, 29(157).
2. Lee, K. C., Kang, E. Y., Yong, H. S., Kim, C., Lee, K. Y., Hwang, S. H., & Oh, Y. W. (2019). A stepwise diagnostic approach to cystic lung diseases for radiologists. Korean journal of radiology, 20(9), 1368-1380.
- Keywords