Birt-Hogg-Dubé syndrome

Imaging of
congenital lung diseases presenting in the adulthood: a pictorial review. A 53-year-old man with Birt–Hogg–Dubé Syndrome. Coronal (a) and sagittal (b) reconstruction images in the lung window show large cysts with irregular shapes. Contrast-enhanced coronal reconstruction image in the mediastinal window (c) demonstrates an enhancing heterogeneous solid mass in the right kidney
insightsimaging.springeropen.com • CC-by-4.0
Birt-Hogg-Dubé
syndrome. A chromophobe renal cell carcinoma in the upper pole of the right kidney.
www.eurorad.org • CC by-nc-sa-4.0
Birt-Hogg-Dubé
syndrome. Multiple lung cysts, often lentiform and subpleural in distribution, typically found in the basal regions of both lungs (1a, 1b) and against the right major fissure (1c).
www.eurorad.org • CC by-nc-sa-4.0
Birt-Hogg-Dubé
syndrome. Multiple lung cysts, often lentiform and subpleural in distribution, typically found in the basal regions of both lungs (1a, 1b) and against the right major fissure (1c).
www.eurorad.org • CC by-nc-sa-4.0
Birt-Hogg-Dubé
syndrome. Multiple lung cysts, often lentiform and subpleural in distribution, typically found in the basal regions of both lungs (1a, 1b) and against the right major fissure (1c).
www.eurorad.org • CC by-nc-sa-4.0
Birt-Hogg-Dubé
syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman. Chest X-ray showed bilateral pneumothorax in a health screening.
surgicalcasereports.springeropen.com • CC-by-4.0
A practical
approach to cystic lung disease on HRCT. Coronal reformat CT thorax shows multiple thin-walled cysts with a lower lobe predominance in a patient with Birt-Hogg-Dube. The cysts have irregular shapes (arrow) and a right apical pneumothorax is present (arrowhead). The patient had a family history of pneumothoraces
insightsimaging.springeropen.com • CC-by-2.0
Correlative
analysis of lung CT findings in patients with Birt–Hogg–Dubé Syndrome and the occurrence of spontaneous pneumothorax: a preliminary study. Chest CT images of patients diagnosed with BHD syndrome. Multiple lung cysts ofvarying sizes can be seen. The lung cysts are in the interlobular fissure areas
bmcmedimaging.biomedcentral.com • CC-by-4.0
Correlative
analysis of lung CT findings in patients with Birt–Hogg–Dubé Syndrome and the occurrence of spontaneous pneumothorax: a preliminary study. Chest CT images of patients diagnosed with BHD syndrome. Multiple lung cysts of willow-like, oval, and irregular shapes and varying sizes can be seen. The lung cysts are in the mediastinal subpleural and interlobular fissure areas in both lungs and grow near the mediastinum
bmcmedimaging.biomedcentral.com • CC-by-4.0
Correlative
analysis of lung CT findings in patients with Birt–Hogg–Dubé Syndrome and the occurrence of spontaneous pneumothorax: a preliminary study. Chest CT images of patients diagnosed with BHD syndrome. Multiple well-circumscribed, thin-walled lung cysts of willow-like, oval, and irregular shapes and varying sizes can be seen. The lung cysts are in the mediastinal subpleural and interlobular fissure areas in both lungs and grow near the mediastinum . Figures 1 and 2 are images of the same patient before (Fig. 1) and during (Fig. 2) pneumothorax
bmcmedimaging.biomedcentral.com • CC-by-4.0
Correlative
analysis of lung CT findings in patients with Birt–Hogg–Dubé Syndrome and the occurrence of spontaneous pneumothorax: a preliminary study. Chest CT images of patients diagnosed with BHD syndrome. Multiple well-circumscribed, thin-walled lung cysts of willow-like, oval, and irregular shapes and varying sizes can be seen. The lung cysts are in the mediastinal subpleural and interlobular fissure areas in both lungs and grow near the mediastinum. Figures 1 and 2 are images of the same patient before (Fig. 1) and during (Fig. 2) pneumothorax
bmcmedimaging.biomedcentral.com • CC-by-4.0
Birt-Hogg-Dubé
syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman. Chest CT showed right-sided pneumothorax and multiple cystic lesions in both of the patient"s lungs. Adhesion and thickened visceral pleura were found.
surgicalcasereports.springeropen.com • CC-by-4.0
Birt-Hogg-Dubé
syndrome. Several cysts in the left kidney.
www.eurorad.org • CC by-nc-sa-4.0
Radiopaedia • CC-by-nc-sa 3.0 • de

Birt-Hogg-Dubé syndrome or folliculin gene-associated syndrome is a genetic multisystemic disease mainly characterized by:

  • multiple lung cysts and secondary spontaneous pneumothoraces
  • multiple bilateral renal tumors (particularly chromophobe renal cell cancer and oncocytoma)
  • cutaneous manifestations (angiofibromas, perifollicular fibromas, acrochordons, fibrofolliculomas, etc.)

Epidemiology

Birt-Hogg-Dubé syndrome carries an estimated 25% risk of renal cell carcinoma .

Pathology

Genetics

Deletion mutation in the folliculin (FLCN) gene (short arm of chromosome 17), with autosomal dominant inheritance.

Radiographic features

CT

Lung cysts in Birt-Hogg-Dubé syndrome are usually multiple and have a lower zone predominance . Cyst morphology tends to be variable within each patient, with cysts commonly oval or lentiform and septated when large . The presence of paramediastinal cysts when disproportionate in number or oval (floppy) in shape is another distinguishing characteristic .

History and etymology

It is named after A R Birt, G R Hogg and W J Dubé who published their findings in 1978 .

Differential diagnosis

Consider other cystic lung conditions such as:

See also

Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Birt-Hogg-Dubé-Syndrom:
multiple
zystische Lungenherde
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Onkozytom der
Niere
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