Cutis laxa

Cutis laxa

Cutis laxa (also called elastolysis) is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.


In most cases, cutis laxa is inherited. Autosomal dominant, autosomal recessive and X-linked recessive forms have been described, but acquired forms also occur.

In patients suffering from cutis laxa, mutations in the elastic fibers comprising the dermis have been identified.

There is some evidence tying it to ELN, ATP6V0A2, ATP7A, FBLN5 and FBLN4.


It is characterized by skin that is loose, hanging, wrinkled, and lacking in elasticity. The loose skin is often most noticeable on the face, resulting in a prematurely aged appearance. The affected areas of skin may be thickened and dark. In addition, the joints are loose (hypermobility) because of lax ligaments and tendons. When cutis laxa is severe, it can also affect the internal organs. The lungs, heart, intestines, or arteries may be affected with a variety of severe impairments. In some cases, hernias and outpouching of the bladder can be observed.


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