Parsimony or Poor Luck: Concurrent Birt-Hogg- Dubé Syndrome and Sarcoidosis

Brooks Thomas Kuhn, Priyanka Heeru Teckchandani, Richart William Harper

Abstract


While sarcoidosis is notorious for myriad manifestations including cystic lung changes, we present a case with both Birt-Hogg-Dubé syndrome (BHD) and pulmonary sarcoidosis. BHD is a rare, autosomal dominant genetic disorder characterized by numerous thin-walled, irregular cysts, but lung function is typically normal otherwise. We present a case with confirmed BHD syndrome and concurrent granulomatous lung disease consistent with sarcoidosis. 


Keywords


sarcoidosis; birt-hogg-dube syndrome; cystic lung disease

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ISSN: 2532-179X