SERIES ULTRA-RARE LUNG DISEASE Ultra-rare cystic disease Davide Elia1, Olga Torre1, Roberto Cassandro1, Antonella Caminati1 and Sergio Harari 1,2,3 Number 2 in the Series “Ultra-rare lung disease” Edited by Sergio Harari and Marc Humbert Affiliations: 1U.O. di Pneumologia e Terapia Semi-Intensiva Respiratoria - Servizio di Fisiopatologia Respiratoria ed Emodinamica Polmonare, Ospedale San Giuseppe - MultiMedica IRCCS, Milan, Italy. 2Dept of Medical Sciences San Giuseppe Hospital MultiMedica IRCCS, Milan, Italy. 3Dept of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Correspondence: Roberto Cassandro. U.O. di Pneumologia e Terapia Semi-Intensiva Respiratoria - Servizio di Fisiopatologia Respiratoria ed Emodinamica Polmonare, Ospedale San Giuseppe - MultiMedica IRCCS, Via San Vittore 12, 20123 Milan, Italy. E-mail:
[email protected] @ERSpublications Diffuse cystic lung diseases show a characteristic CT scan pattern that often allows for diagnosis, even in asymptomatic patients, allowing prompt correct therapy and management without the needing of a biopsy https://bit.ly/2wIUKet Cite this article as: Elia D, Torre O, Cassandro R, et al. Ultra-rare cystic disease. Eur Respir Rev 2020; 29: 190163 [https://doi.org/10.1183/16000617.0163-2019]. ABSTRACT Diffuse cystic lung diseases include a group of heterogeneous disorders characterised by the presence of cysts within the lung parenchyma, sometimes showing a characteristic computed tomography scan pattern that allows diagnosis. The pathogenetic mechanisms underlying cyst formation in the lung are still not clear and a number of hypotheses have been postulated according to the different aetiologies: ball-valve effect, ischaemic dilatation of small airways and alveoli related to infiltration and obstruction of small vessels and capillaries that supply the terminal bronchioles and connective tissue degradation by matrix metalloproteases.