Cutis Laxa

Cutis laxa is a rare genetic condition that affects your body’s connective tissue. It causes loose, sagging skin. Connective tissue helps your skin and other parts of your body stay firm and flexible.

Normally, your skin’s fibers stretch and then tighten back to their usual shape. If you have cutis laxa, these fibers don’t work as they should. They stay stretched out. This makes your skin look wrinkled or saggy.

Depending on the type, cutis laxa can also affect your blood vessels, muscles and organs. The condition is very rare.

A healthcare provider can help you manage symptoms and explore treatment options to protect your health and improve comfort.

Types of cutis laxa

There are two main types, based on when it appears:

• Acquired: This type develops later in life, usually in adults. It can happen after an illness, infection or as a reaction to certain medications.
• Inherited: This type is present at birth. It’s caused by a change in a gene passed down from one or both biological parents.

Symptoms of cutis laxa

Signs and symptoms can vary depending on the type. But the main sign is loose, sagging skin that doesn’t spring back after stretching.

Other possible features of this condition include:

• Skin that looks older than usual, especially on your face
• Developmental or learning delays
• Facial or bone differences
• Slower growth during childhood
• Spine or chest deformities
• Very flexible or loose joints

Cutis laxa causes

Inherited cutis laxa happens because of a change (variation) in a gene that helps your body make elastin, or in genes that help elastin function, like fibulins. Elastin is the protein that gives skin its stretch and strength. When this process doesn’t work as it should, your skin and connective tissues become loose.

There are different inherited types:

• Autosomal dominant cutis laxa (ADCL): Caused by a change in one copy of the ELN (elastin) gene or FBLN5 (fibulin), passed down from one biological parent
• Autosomal recessive cutis laxa (ARCL): Caused by changes in both copies of a gene, like FBLN5, FBLN4 or ATP6V0A2, passed down from both parents
• X-linked recessive cutis laxa (occipital horn syndrome): Caused by a change in a gene on the X chromosome (ATP7A)

Sometimes, cutis laxa appears when neither parent has the gene change.

Acquired cutis laxa isn’t genetic. It can happen later in life due to:

• An immune response
• Autoimmune diseases
• Certain infections
• Inflammation
• Reactions to some medications

Risk factors of cutis laxa

You may be more likely to get cutis laxa if a biological parent or close relative carries the gene change that causes the condition.

For acquired cutis laxa, several health conditions and reactions can increase your risk. These include:

• Allergic or severe reactions to certain medications (like penicillin)
• Amyloidosis
• Inflammatory skin problems
• Myeloma
• Rheumatoid arthritis
• Still’s disease
• Syphilis

Complications of cutis laxa

Complications can vary based on the type. For example, they tend to be milder in autosomal dominant forms and more serious in autosomal recessive forms.

Possible complications include:

• Bulging in your bladder or intestines (diverticula), causing discomfort or problems with digestion or peeing
• Organs that push into your chest through a weak spot in the muscle that separates your chest and abdomen (diaphragmatic hernia)
• Lung problems (emphysema) that make it hard to breathe
• Heart abnormalities (aortic aneurysm)
• Heart strain caused by lung disease (cor pulmonale)
• Reduced organ function over time
• Weakened tissue support in organs, like your lungs, heart, digestive or urinary system
• Delays in growth and development

Heart and lung problems usually appear in early childhood. Some complications can be serious or even life-threatening. That’s why it’s important to have regular check-ups and follow your provider’s care plan closely.

How doctors diagnose cutis laxa

A healthcare provider can often spot this condition by looking at your skin. For babies, a pediatrician may notice loose or sagging skin during a well-child visit. They may also ask if anyone in your family has similar symptoms. Adults usually get a diagnosis when a provider sees signs of acquired cutis laxa during a physical exam.

To confirm the diagnosis, your provider may recommend:

• A skin biopsy to check how the elastin fibers in your skin look under a microscope
• Genetic testing to look for changes in specific genes

If your provider thinks the condition affects other parts of your body — not just your skin — they may order additional tests, like:

• Imaging tests (like X-rays, CT scans, ultrasounds or echocardiograms) to check your organs and blood vessels
• Lung function tests to see how well you’re breathing

How is cutis laxa treated?

There isn’t a treatment that can reverse the changes to your elastin fibers. But there are ways to manage symptoms and improve how you feel. Your provider may recommend:

• Cosmetic procedures: These can tighten or remove loose skin to improve how it looks and feels. Options may include face or body lifts, laser treatments or botulinum toxin (Botox®) injections. Cosmetic treatments aren’t permanent — your skin may loosen again over time.
• Managing complications: Your care team will treat other health issues based on your needs. This might include medication for heart or blood vessel conditions, oxygen therapy for lung problems or surgery to repair hernias.

If you have this condition, avoid smoking or using tobacco products. Smoking can make lung problems worse and cause more damage to elastin.

When should I see my healthcare provider?

It’s normal for skin to loosen with age or after weight loss. But if you notice sagging or loose skin that seems unusual or happens suddenly, talk to a healthcare provider.

If you or your child has cutis laxa, regular check-ups are important. Your provider will watch for any changes in your skin or signs that the condition is affecting other parts of your body.

Contact your provider right away if you notice:

• Belly pain or bulges in your abdomen
• Bowel or bladder issues
• Chest pain
• Trouble breathing

Cutis laxa prognosis

Your outlook depends on whether the condition affects only your skin or also involves your organs.

If it affects only your skin, it’s mainly cosmetic, and you can expect a normal life span. When it involves your organs, complications can sometimes shorten life expectancy, especially if they’re severe.

With regular care and the right treatment, many people manage symptoms and prevent serious problems. Ongoing follow-up is important to catch any issues early. Your healthcare provider can give you the best guidance about your specific outlook and what to expect.

Can cutis laxa be prevented?

There’s no known way to prevent this condition. The inherited form happens when certain genes change during fetal development. There isn’t anything you or your partner can do to stop these changes.

If cutis laxa runs in your family, talk to a healthcare provider. They can explain what causes it and may recommend genetic counseling to discuss risks and options before pregnancy.

The acquired form is also hard to predict or prevent because it has many different triggers. Avoiding known triggers may reduce the risk of the acquired form coming back.