In cutis laxa, the elastic fibers (fibers that enable tissue to stretch and then spring back into place) contained in the connective tissue (the tough, often fibrous tissue that binds the body's structures together and provides support and elasticity) become loose. Sometimes only the skin is affected, but connective tissues throughout the body can be affected.
Cutis laxa is usually hereditary. In some kinds of cutis laxa, the abnormal genes cause problems unrelated to connective tissues. For example, the genes may cause disorders of the heart, lungs, or digestive tract or intellectual disability. Rarely, infants can develop cutis laxa after an illness that causes fever or after having an allergic reaction to penicillin. In children or adolescents, cutis laxa usually develops after a severe illness involving fever, inflammation of organs such as the lining of the lungs or heart, or erythema multiforme (patches of red, raised skin). In adults, it may develop with other disorders, particularly plasma cell disorders.
The symptoms of cutis laxa can be mild, affecting only a person’s appearance, or severe, affecting internal organs. The skin may be very loose at birth or it may become loose later. The loose skin is often most noticeable on the face, resulting in a prematurely aged appearance and a hooked nose. The lungs, heart, intestines, or arteries may be affected with a variety of severe impairments.
Although symptoms often become noticeable shortly after birth, they may begin suddenly in children and adolescents. In some people, symptoms develop gradually during adulthood.
A doctor can usually diagnose cutis laxa by examining the skin.
Sometimes removal of a skin tissue sample for examination under a microscope (biopsy) is necessary.
Other tests, such as echocardiography or a chest x-ray, may be done to look for associated disorders of the heart and lungs. People who developed cutis laxa at a young age or who have relatives who have the disorder should have genetic testing. Genetic test results may predict whether these people are at risk of passing the disorder to offspring and whether organs other than the skin will be affected.
There is no specific treatment for cutis laxa.
Plastic surgery can often improve the appearance of the skin, but the improvement may be only temporary. Associated disorders that do not affect the skin, such as heart and lung disorders, are treated appropriately.
Physical therapy may sometimes help increase skin tone.