**3.1.13 Connective-tissue disorders**

Several connective disorders have been implicated in causation of or co-existence with emphysema and poor lung function. Cutis laxa is a congenital disorder of elastintropoelastin that is characterized by premature aging and occasionally emphysema. Marfan syndrome (autosomal dominant inherited disease of type I collagen), Ehlers-Danlos syndrome,Salla disease (autosomal recessive storage disorder with intralysosomal accumulation of sialic acid), Birt-Hogg-Dube' syndrome and familial spontaneous pneumothorax syndrome(mutations in folliculin gene) have been associated with poor lung function, blebs, pneumothorax and emphysema(ATS,2010).
