Cystic lung disease

Abstract

This review addresses the pathology of lung disease in which the predominant finding is diffuse cystic change. Although cysts may be found radiologically in a wide variety of disease states, the entities discussed are those most likely to be encountered in biopsies where the underlying aetiology is unclear. These include Langerhans cell histiocytosis, lymphangioleiomyomatosis and Birt-Hogg-Dubé syndrome, and recent advances in the molecular pathology of these entities are reviewed. Conditions in which cyst formation may occur but does not represent the predominant pathology are also considered, including alveolar septal amyloidosis, light chain disease, follicular bronchiolitis and lymphocytic interstitial pneumonia. Cystic metastases may present a differential diagnostic dilemma.

Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients

“…Because the clinical expression can vary and is age-dependent, BHD syndrome in patients who present with pneumothorax cannot be excluded when no renal abnormalities or skin lesions are found [20]. The differential diagnosis of patients with multiple lung cysts include emphysema, cystic bronchiectasis, honeycomb change, cavitated infective nodules, pulmonary Langerhans cell histiocytosis (LCH), lymphangioleiomyomatosis (LAM), lymphocytic interstitial pneumonia (LIP), follicular bronchiolitis, amyloidosis, light chain deposition disease (LCDD) and Birt-Hogg-Dubé (BHD) syndrome [21]. The cystic pattern in BHD differs from that observed in other lung diseases; In BHD multiple thin-walled pulmonary cysts of various sizes are observed, predominately distributed to the lower medial and subpleural regions of the lung with cysts abutting or including the proximal portion of the lower pulmonary veins or arteries [22-24].…”

Diagnosis and treatment of cystic lung disease

“…The obstruction of small capillaries that supply the terminal bronchiole leads to necrosis of the airways and ischemic dilatation [12]. A molecular mechanism has also been suggested in which matrix metalloproteinase (MMP), matrix-degradation enzymes, and podoplanin (D2-40) induce lung tissue remodeling [9,13,14]. LAM, PLCH, and light chain deposit disease (LCDD) are representative diseases that develop via this mechanism.…”

What do we have to know about Cystic Lung Diseases?

“…Pulmonary transplantation is an option in advanced stages of the disease. Ignorance of the pathogenesis of many of these diseases makes specifi c treatment diffi cult [6]. For example, in pulmonary Langerhans cell histiocytosis, since BRAF mutations have been described, vemurafenib treatment has been tested with promising results.…”