OBJECTIVE: Birt-Hogg-Dubé syndrome manifests in the thorax as lung cysts. The purpose of this article is to describe the CT characteristics of cysts in patients with Birt-Hogg-Dubé syndrome and to note other thoracic findings. MATERIALS AND METHODS: The thoracic CT examinations of 17 patients with Birt-Hogg-Dubé syndrome were reviewed retrospectively for the presence, anatomic distribution (upper lung predominant, lower lung predominant, or diffuse), extent (size, number), and morphology (shape, wall thickness) of cysts. Any additional thoracic findings were also noted. RESULTS: The study population consisted of 13 women (76%) and four men (24%) with a mean age of 50.2 ±15.2 years. Two patients (12%) had normal findings on CT. Fifteen patients had cystic lung disease, all of whom had more than one cyst. Most patients had bilateral (13/15, 87%) and lower lung-predominant cysts (13/15, 87%). The cysts varied in size from 0.2 to 7.8 cm. The largest cysts were located in the lower lobes of 14 of 15 patients (93%). Of the nine patients with large cysts, most had at least one multiseptated cyst (7/9, 78%). Five of 15 patients (33%) had more than 20 cysts. Cyst shape varied among the 15 patients and also within individual patients (10/15, 67%) ranging from round to oval, lentiform, and multiseptated. Cysts showed no central or peripheral predominance. CONCLUSION: Discrete thin-walled cysts in patients with Birt-Hogg-Dubé syndrome are more numerous and larger in the lower lobes and vary in size and shape. Large lung cysts are frequently multiseptated. These features may aid in differentiating Birt-Hogg-Dubé syndrome from other more common cystic lung diseases.
OBJECTIVE: Birt-Hogg-Dubé syndrome manifests in the thorax as lung cysts. The purpose of this article is to describe the CT characteristics of cysts in patients with Birt-Hogg-Dubé syndrome and to note other thoracic findings. MATERIALS AND METHODS: The thoracic CT examinations of 17 patients with Birt-Hogg-Dubé syndrome were reviewed retrospectively for the presence, anatomic distribution (upper lung predominant, lower lung predominant, or diffuse), extent (size, number), and morphology (shape, wall thickness) of cysts. Any additional thoracic findings were also noted. RESULTS: The study population consisted of 13 women (76%) and four men (24%) with a mean age of 50.2 ±15.2 years. Two patients (12%) had normal findings on CT. Fifteen patients had cystic lung disease, all of whom had more than one cyst. Most patients had bilateral (13/15, 87%) and lower lung-predominant cysts (13/15, 87%). The cysts varied in size from 0.2 to 7.8 cm. The largest cysts were located in the lower lobes of 14 of 15 patients (93%). Of the nine patients with large cysts, most had at least one multiseptated cyst (7/9, 78%). Five of 15 patients (33%) had more than 20 cysts. Cyst shape varied among the 15 patients and also within individual patients (10/15, 67%) ranging from round to oval, lentiform, and multiseptated. Cysts showed no central or peripheral predominance. CONCLUSION: Discrete thin-walled cysts in patients with Birt-Hogg-Dubé syndrome are more numerous and larger in the lower lobes and vary in size and shape. Large lung cysts are frequently multiseptated. These features may aid in differentiating Birt-Hogg-Dubé syndrome from other more common cystic lung diseases.
Authors: Philip M Boone; Rachel M Scott; Stefan J Marciniak; Elizabeth P Henske; Benjamin A Raby Journal: Am J Respir Crit Care Med Date: 2019-06-01 Impact factor: 21.405