ArticleJournal of family medicine and primary care2024
Birt-Hogg-Dubé syndrome presenting with bilateral pneumothorax, skin, kidney, liver, and brain lesions.
Article in Journal of family medicine and primary care, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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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