AI Article Synopsis
- Birt-Hogg-Dubé syndrome (BHDS) is a rare genetic disorder that leads to benign skin growths, lung cysts, and a higher chance of lung collapse (pneumothorax) and kidney cancer.
- A case study of a young Indian boy highlighted how bilateral pneumothorax was the first sign of BHDS, alongside various other complications like facial lesions and kidney abnormalities detected through imaging.
- Recognizing these symptoms as part of BHDS is crucial for primary care physicians, as it allows for proper management and timely referrals to specialized medical centers.
Article Abstract
Birt-Hogg-Dubé syndrome (BHDS) is a rare hereditary autosomal dominant condition characterized by benign cutaneous lesions, lung cysts, and increased risk of spontaneous pneumothorax and renal cancer. We report a case of a young Indian boy with bilateral pneumothorax as the first symptom of BHDS. Detailed history examination and investigation showed multiple facial lesions; his computerized tomography was suggestive of renal angiomyolipoma, hepatic angiomyolipoma, pulmonary cyst with pneumothorax, and small bilateral subependymal soft tissue density lesion with calcification in the brain, all of which were collectively suggestive of BHDS. Identification of the above commonly presented clinical features as a syndrome is important for even a primary care physician so as to ensure the timely management and if required referral to a higher center.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11213438 | PMC |
| http://dx.doi.org/10.4103/jfmpc.jfmpc_1451_23 | DOI Listing |
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