This disorder is usually caused a defective gene but can occur after certain illnesses.
The main symptom is very loose skin.
The diagnosis is usually based on symptoms and results of a physical examination.
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 Overview of Connective Tissue Disorders in Children Connective tissue is the tough, often fibrous tissue that binds the body's structures together and provides support and elasticity. Muscles, bones, cartilage, ligaments, and tendons are built... read more 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.
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 may cause intellectual disability Intellectual Disability Intellectual disability is significantly below average intellectual functioning present from birth or early infancy, causing limitations in the ability to conduct normal activities of daily... read more .
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 Erythema Multiforme Erythema multiforme is an inflammatory skin disorder characterized by patches of red, raised skin that often look like targets and usually are distributed symmetrically over the body. (See also... read more 
(patches of red, raised skin).
In adults, cutis laxa may develop with other disorders, particularly plasma cell disorders Overview of Plasma Cell Disorders Plasma cell disorders are uncommon. They begin when a single plasma cell multiplies excessively. The resulting group of genetically identical cells (called a clone) produces a large quantity... read more .
Symptoms of Cutis Laxa
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.
Leakage of blood through heart valves (regurgitation) and other blood vessel problems may occur. Bulges through the abdominal wall (hernias Abdominal Wall Hernias A hernia is the bulge of an organ through the muscle or tissue that holds it in place. There are many different types of hernias. The most common hernias are in the wall of your abdomen (belly)... read more 
) and a destructive disorder of the airs sacs of the lungs (emphysema Chronic Obstructive Pulmonary Disease (COPD) Chronic obstructive pulmonary disease is persistent narrowing (blocking, or obstruction) of the airways occurring with emphysema, chronic obstructive bronchitis, or both disorders. Cigarette... read more 
) are common.
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
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 Echocardiography and Other Ultrasound Procedures Ultrasonography uses high-frequency (ultrasound) waves bounced off internal structures to produce a moving image. It uses no x-rays. Ultrasonography of the heart (echocardiography) is one of... read more 
or a chest x-ray Plain X-Rays X-rays are high-energy radiation waves that can penetrate most substances (to varying degrees). In very low doses, x-rays are used to produce images that help doctors diagnose disease. In high... read more , 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.
Prognosis for Cutis Laxa
Severe impairments of the heart, lungs, arteries, or intestines, when present, can be fatal.
Treatment of Cutis Laxa
Sometimes plastic surgery
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.
More Information
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Cutis Laxa Internationale: A worldwide resource providing support, education, and community information about cutis laxa
