Cutis laxa is a rare disorder of connective tissue that causes the skin to stretch easily and hang in loose, wrinkled, and sagging folds.
This disorder is usually caused by a defective gene but can occur after certain illnesses or after a reaction to a medication.
The main symptom is very loose skin.
The diagnosis is usually based on symptoms, physical examination, and on the results of skin biopsy and genetic testing.
There is no cure for cutis laxa, but plastic surgery may help improve the appearance of the skin.
The fibers that enable tissue to stretch and then spring back into place are called elastic fibers. These fibers are contained in the connective tissue. Connective tissue is the tough, often fibrous tissue that binds the body's structures together and provides support and elasticity.
In cutis laxa, the elastic fibers become loose. Sometimes only the skin is affected, but connective tissues throughout the body can be affected as well.
Cutis laxa is usually hereditary. In some kinds of hereditary cutis laxa, the abnormal genes cause the skin problems, other problems with the joints, heart, lungs, or digestive tract, or intellectual disability.
Cutis laxa can develop in people after an infection, an allergic reaction to a medication (such as penicillin), inflammation of organs (such as the lining of the lungs or heart), erythema multiforme (patches of red, raised skin), or plasma cell disorders.
Symptoms of Cutis Laxa
The main symptom of cutis laxa is excessively loose, wrinkled, and sagging skin. After the skin is stretched, it slowly recoils back into place.
The symptoms of cutis laxa can be mild, affecting mainly the skin, 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.
Heart failure and other heart-related problems may occur. Bulges of internal organs such as intestines through the abdominal wall (hernias) and a destructive disorder of the airs sacs of the lungs (emphysema) may occur.
This photo shows loose skin (especially the wrinkly skin on the abdomen) in a child with cutis laxa.
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 of Cutis Laxa
A doctor's evaluation
Skin biopsy
Tests for complications
Genetic testing
A doctor can usually diagnose cutis laxa by examining the skin.
Doctors remove a skin tissue sample to examine the elastic fibers under a microscope (biopsy).
Other tests, such as echocardiography, computed tomography (CT) of the lungs, ultrasound of the abdomen, or x-rays of the spine, may be done.
People who were born with cutis laxa or developed it at a young age or who have relatives who have the disorder should have genetic testing. Genetic test results may help doctors predict whether these people are at risk of passing the disorder to their children and whether organs other than the skin will be affected.
Treatment of Cutis Laxa
Sometimes plastic surgery
There is no specific treatment for cutis laxa. People should care for their skin with sunscreen and moisturizers and should not use any tobacco products.
Plastic surgery may improve the appearance of the skin in people who have hereditary cutis laxa, but surgery is less successful in people who develop cutis laxa after an illness or a reaction to medication.
Associated disorders that do not affect the skin, such as heart and lung disorders, are treated appropriately with medications or surgery.
Physical therapy may sometimes help increase the skin tone.
Prognosis for Cutis Laxa
Severe cutis laxa can cause impairments of the heart, lungs, arteries, or intestines that can be fatal.
More Information
The following English-language resource may be useful. Please note that The Manual is not responsible for the content of this resource.
