Birt-Hogg-Dubé Syndrome presenting with chronic progressive dyspnea

Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant disease which manifests with cutaneous hamartomas, lung cysts and renal carcinomas. A wide spectrum of phenotypic expression and few visible manifestations makes BHDS a likely under-recognized entity. Diffuse cystic lung disease (DCLD) is the typical pulmonary manifestation of BHDS, which in the absence of other specific findings carries a broad differential diagnosis. Unlike many other...