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Cohorts of patients with tuberous sclerosis have been screened for LAM using CT scanning. In a retrospective study of adults with tuberous sclerosis, CT demonstrated lung cysts in 42% of 95 women and 13% of 91 men. In general, lung cysts were larger and more numerous in women than in men. [135]
A lung cyst, or pulmonary cyst, encloses a small volume of air, and has a wall thickness of up to 4 mm. [3] A minimum wall thickness of 1 mm has been suggested, [3] but thin-walled pockets may be included in the definition as well. [4] Pulmonary cysts are not associated with either smoking or emphysema. [5]
Patients presenting with no symptoms, and not affected by the syndrome may not require treatment. Corticosteroids have been reported to be of benefit in select patients. Bronchodilators may assist with breathing issues.
A focal lung pneumatosis is an enclosed pocket of air or gas in the lung and includes blebs, bullae, pulmonary cysts, and lung cavities. Blebs and bullae can be classified by their wall thickness. [1] A bleb has a wall thickness of less than 1 mm. [2] By radiology definition, it is up to 1 cm in total size. [3]
Diagnosis of a lung cavity is made with a chest X-ray or CT scan of the chest, [2] which helps to exclude mimics like lung cysts, emphysema, bullae, and cystic bronchiectasis. [5] Once an imaging diagnosis has been made, a person’s symptoms can be used to further narrow the differential diagnosis.
Birt-Hogg-Dubé Syndrome patients, families, and caregivers are encouraged to join the NIH Rare Lung Diseases Consortium Contact Registry. This is a privacy-protected site that provides up-to-date information for individuals interested in the latest scientific news, trials, and treatments related to rare lung diseases.
Congenital pulmonary airway malformation (CPAM), formerly known as congenital cystic adenomatoid malformation (CCAM), is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue.
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