A 69 y.o. presents with shortness of breath

What do you see on the CT of the chest?

Our patient had lymphangioleiomyomatosis or LAM.  It is a kind of cystic lung disease which can be associated with tuberous sclerosis and affects women in their childbearing years. In 82% of patients the initial presentation is with pneumothorax.  There are multiple complications of lymphatic obstruction including chylothorax, chylous ascites and chylopericardium. These complications are caused by smooth muscle cells that invade vessels and airways.

Kidney tumors, angiomyolipomas are present in 30% of the patients with LAM not associated with tuberous sclerosis and int 90 % of patients with tuberous sclerosis.

skin manifestations of tuberous sclerosis include adenoma sebaceum

The other three types of cystic lung disease are Langerhan’s cell histiocytosis (eosinophilic granuloma), Birt Hogg Dube (which presents with lung cysts and renal CA caused by an abnormality of folliculin) and lymphoid interstitial pneumonia.  The latter is found in autoimmune diseases like Sjogrens and is caused by an overgrowth of lymphoid tissue.

more skin manifestations of cystic lung disease

Cystic lung disease does not include: cystic fibrosis(where the cysts are found in the pancreas), emphysema, metastatic cystic lesions  or bronchiectasis where air is trapped in spaces without true walls.  Any cystic lung disease can present with pneumothorax.

McCormack FX. Lymphangioleiomyomatosis: a clinical update. 2008 Chest 133(2):507-16.

Lampert S, Schmid A, Wiest O, Hahn E, Ficker J. Fire-eater’s lung. Two cases and review of the literature. 2006. Disch Med Wochenschr  131(7):319-22.

Koo H, Yoo C.  Multiple cystic lung disease. 2013 Tuberc Respir Dis 74(3) 97-103