There is evidence to believe that certain defects of any components of the elastic matrix may impair and alter the structural appearance of elastic and
collagen fibers.
Cutis laxa and
Williams syndrome have elastic matrix defects that have been directly associated with alterations in the elastin gene.
Alpha-1 antitrypsin deficiency is a genetic disorder where elastin is excessively degraded by
elastase, a degrading protein released by
neutrophils during the inflammatory response. This leads most often to
emphysema and liver disease in affected individuals.
Buschke–Ollendorff syndrome,
Menkes disease,
pseudoxanthoma elasticum, and
Marfan's syndrome have been associated with defects in copper metabolism and lysyl oxidase or defects in the microfibril (defects in
fibrillin, or
fibullin for example).
Hurler disease, a
lysosomal storage disease, is associated with an altered elastic matrix.
Hypertension and some
congenital heart defects are associated with alterations in the
great arteries,
arteries, and
arterioles with alterations in the elastic matrix. ==Elastosis==