Cystic Lung Disease in Genetic Syndromes with Deficient Tumor Suppressor Gene Function

Abstract

Cystic lung diseases constitute a distinct group of rare lung disorders, among which two result from monogenic defects affecting tumor suppressor genes: lymphangioleiomyomatosis, either sporadic or associated with tuberous sclerosis complex, and Birt-Hogg-Dubé syndrome. These disorders have similarities in their clinical expression, including occurrence in young adults, multiple pulmonary cysts, recurrent pneumothorax, skin hamartomas, and renal tumors. However, they markedly differ in their gender distribution, pathogenesis, disease course, and prognosis. Our knowledge on these two rare conditions is rapidly expanding. Management of lymphangioleiomyomatosis has substantially improved in the past decade with the understanding of its pathogenic mechanisms, the discovery of an effective therapy, and development of large cohorts and international guidelines. Birt-Hogg-Dubé syndrome has been described more recently and still awaits deeper understanding of its pathophysiology.

Air travel and incidence of pneumothorax in lymphangioleiomyomatosis

“…Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease affecting almost exclusively women in their reproductive age. It is characterised by the proliferation of abnormal smooth muscle-like cells (LAM cells) in the lungs and lymphatic system, and is considered as a low-grade metastasizing neoplasm [1–5]. In the lungs, LAM cell proliferation leads to the development of multiple thin-walled cysts and progressive destruction of the parenchyma resulting in dyspnea, obstructive ventilatory defect, reduced carbon monoxide transfer factor, and hypoxemia [6–10].…”

Lymphangioleiomyomatosis: About Two Cases and Review of the Literature

“…Cystic lung disease is a distinct group of rare lung diseases, with a diagnosis differential which includes lymphangioleiomyomatosis (LAM), Birt-Hogg-Dube syndrome, pulmonary Langerhans cell histiocytosis, light chain deposition disease, and other entities still rarer [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21]. In the lungs, LAM is characterized by progressive infiltration of lung tissue by atypical smooth muscle cells resulting in cystic destruction of the lung parenchyma, abnormalities respiratory function, dyspnea and recurrent pneumothorax.…”

Imaging of congenital lung diseases presenting in the adulthood: a pictorial review

“…BHDS is characterized by cutaneous fibrofolliculomas, pulmonary cysts, and kidney tumors of varied histological types. Although BHDS is usually seen in the 3rd or 4th decade of life, it can be seen in individuals at any age without certain gender predilection [ 18 , 19 ].…”