Catalog

Autosomal dominant cutis laxa

No MMS code

Link to WHO Definition

Autosomal dominant cutis laxa – http://id.who.int/icd/entity/720393698

Autosomal dominant cutis laxa results from mutations in the elastin gene ELN which result in the development of folds of loose, inelastic, redundant skin that typically become more prominent with age. In about a third of cases the condition results from a new mutation. It may first be recognised at any time from birth to early adulthood. Characteristic facial features include an aged appearance, long philtrum, high forehead, large earlobes, and beaked nose. Systemic manifestations include aortic aneurysm, severe congenital lung disease and pulmonary artery disease, though many patients live normal life spans. There is marked intrafamilial variability of skin and other systemic manifestations.