TSC1 and tuberous sclerosis: The aims were: 1) evaluation of the prevalence of LAM in a large TSC Italian population and usefulness of lung function tests for screening purposes; 2) assessment of the association between LAM-TSC and other features of the disease such as demographic characteristics of patients, the presence of extrapulmonary involvement and the identification of the mutation of gene TSC1 or TSC2; and 3) characterization of patients affected by MMPH alone.