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Cutis Laxa

by David D. Sherry, MD, Frank Pessler, MD, PhD

Cutis laxa is a rare disorder of connective tissue that causes the skin to stretch easily and hang in loose folds.

In cutis laxa, the elastic fibers (fibers that enable tissue to stretch and then spring back into place) contained in the connective tissue 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, 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—see Erythema Multiforme).

Symptoms

Cutis laxa can be mild, affecting only a person’s appearance, or severe, affecting the 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.

Diagnosis

  • A doctor's evaluation

  • Sometimes skin biopsy

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 (see Echocardiography and Other Ultrasound Procedures) or a chest x-ray (see Plain X-Rays), may be done to look for associated disorders of the heart and lungs. Severe impairments of the heart, lungs, arteries, or intestines can be fatal.

Treatment

  • Sometimes plastic surgery

Plastic surgery can often improve the appearance of the skin, although the improvement may be only temporary. Associated disorders that do not affect the skin are treated appropriately.