Cutis laxa is the general name for a group of rare disorders that affects your connective tissue. This tissue gives your muscles, joints, skin, and organs structure. Most types of cutis laxa are inherited and present at birth along with other disorders, but you can develop some forms later in life.
The term cutis laxa is Latin for lax skin, meaning loose skin. A hallmark of cutis laxa disorders is sagging, wrinkly skin that isn’t elastic. If you stretch the skin, it moves abnormally slowly back into place. There is also excess droopy skin.
What Are the Types of Cutis Laxa?
The four main types of cutis laxa are:
Autosomal dominant cutis laxa (ADCL)
Autosomal dominant cutis laxa (ADCL) is caused by one copy of an irregular gene you can inherit from either parent. If you have dominant cutis laxa, your children will have a 50% chance of having the condition.
In some cases, spontaneous gene changes happen randomly and cause cutis laxa. These types are called de novo mutations and are not inherited.
Autosomal recessive
Autosomal recessive cutis laxa happens when you receive the same irregular gene from both parents. If you receive one normal copy of the gene and one irregular gene, you will carry the recessive cutis laxa gene but might not have any symptoms. Your children will have a 25% chance of having the condition.
X-linked recessive
The X-linked form is sometimes also called occipital horn syndrome. It is considered a copper transport disease. Low levels of copper cause problems converting elastin proteins, leading to low elastin levels in the skin.
Acquired
Acquired cutis laxa means you’re not born with this condition, but you can get it later in life. Some researchers think that in these cases, you likely carry the gene, and a trigger later turns it on.
What Causes Cutis Laxa?
Most cases of cutis laxa come from inherited changes to your elastin genes. Your elastin genes tell your body how to make proteins. If these genes change, your body will have trouble making a protein called elastin. These proteins are a main part of elastic fibers, which make up part of your connective tissue. The elastin might not work properly, or there might not be enough.
The exact cause for the acquired type is unknown. This disorder often happens with other conditions or after exposure to certain medications. These include some:
- Infections
- Cancers like lymphoma
- Inflammatory diseases like celiac disease
- Autoimmune diseases like rheumatoid arthritis
- Medications like penicillin
These conditions and medications are thought to be environmental and immune system triggers that activate the gene.
What Are the Symptoms of Cutis Laxa?
Cutis laxa symptoms vary widely and can be different even between family members. Generally, cutis laxa causes problems forming elastin and connective tissue. This affects the skin but can also affect your internal organs like your heart and lungs.
Symptoms include:
- Loose skin that hangs in folds, especially on the face, neck, and thighs
- Skin that looks droopy or wrinkly
- Looking older than your age
- Loose joints, sometimes called double-jointedness
- Irregular narrowing or bulging in blood vessels
- Lower abdomen hernias
- Belly button hernias
- Pouches in your intestines called diverticula
- Emphysema, a lung disease caused by problems with the tiny sacs in your lungs
Depending on the type, cutis laxa can cause severe symptoms, disabilities, and can be life-threatening. Some forms cause other complications like brain malformations, twisted arteries, low muscle tone, seizures, intellectual disabilities, and differences in facial features.
Can Cutis Laxa Be Cured?
There is no cure for cutis laxa currently or any treatments that prevent the disease. Cutis laxa treatment focuses on managing symptoms and treating other conditions. These include:
- Surgeries to repair hernias
- Medications to control swelling
- Beta-blockers for heart problems
- Botox for wrinkles in your lungs
- Corticosteroid Inhalers for emphysema
- Physical therapy
Sometimes you can have plastic surgery to remove extra, loose skin, but the effects are only temporary as the skin comes back.
Regular appointments with your doctor are important to manage your symptoms.
