OBJECTIVE: To assess the frequency of cystic lung disease suggestive of pulmonary lymphangiomyomatosis in men with tuberous sclerosis complex. PATIENTS AND METHODS: Retrospective review of CT scans of the chest and abdomen on 29 men with tuberous sclerosis complex encountered during a 13-year period, 1998 to 2010. RESULTS: Cystic lung disease (defined as ≥4 cysts) was seen in 11 of 29 men (38%) with tuberous sclerosis complex. The mean age of those with cystic lung disease was 46.3 ± 19.1 years. None of the patients had experienced pneumothorax or chylothorax and none had undergone a lung biopsy for evaluation of cystic lung disease. Lymphangiomyomatosis had been diagnosed in two of 11 patients with cystic lung disease. Renal angiomyolipomas were demonstrated in 14 of 25 patients (56%) with renal imaging available; all 14 had multiple bilateral renal involvement. In this limited cohort of patients, the presence of cystic lung disease did not correlate with age, smoking exposure or the presence of renal AMLs. CONCLUSION: We conclude that tuberous sclerosis complex -related lymphangiomyomatosis may not be rare in men but is milder in severity.
OBJECTIVE: To assess the frequency of cystic lung disease suggestive of pulmonary lymphangiomyomatosis in men with tuberous sclerosis complex. PATIENTS AND METHODS: Retrospective review of CT scans of the chest and abdomen on 29 men with tuberous sclerosis complex encountered during a 13-year period, 1998 to 2010. RESULTS:Cystic lung disease (defined as ≥4 cysts) was seen in 11 of 29 men (38%) with tuberous sclerosis complex. The mean age of those with cystic lung disease was 46.3 ± 19.1 years. None of the patients had experienced pneumothorax or chylothorax and none had undergone a lung biopsy for evaluation of cystic lung disease. Lymphangiomyomatosis had been diagnosed in two of 11 patients with cystic lung disease. Renal angiomyolipomas were demonstrated in 14 of 25 patients (56%) with renal imaging available; all 14 had multiple bilateral renal involvement. In this limited cohort of patients, the presence of cystic lung disease did not correlate with age, smoking exposure or the presence of renal AMLs. CONCLUSION: We conclude that tuberous sclerosis complex -related lymphangiomyomatosis may not be rare in men but is milder in severity.
Authors: Ryan M Powell; Sharon Pattison; Jiri C Moravec; Basharat Bhat; Nada Guirguis; David Markie; Greg T Jones; Jason Copedo; Cristin G Print; Ian M Morison; Alex Gavryushkin; Bronwyn Gray; Lisa J Wyeth; Mike R Eccles; Erin C Macaulay Journal: Cold Spring Harb Mol Case Stud Date: 2022-04-28