Cutis Laxa

Cutis Laxa

What Is Cutis Laxa?

Your body consists of many areas of connective tissue: from your heart to your lungs to your skin. People with cutis laxa have disorders of the connective tissue, causing normally tight elastic tissue to be loose.

An estimated 1 in every 2,000,000 babies has cutis laxa. The very rare condition affects an estimated 400 families worldwide. Cutis laxa is often an inherited condition. However, some people without a family history of cutis laxa develop it later in life. This is known as acquired cutis laxa.

What Are the Types of Cutis Laxa?

Cutis laxa is either inherited or comes on later in life, usually after an illness. All types of the condition are defined below.

Occipital Horn Syndrome (OHS)

Symptoms for OHS typically start within the first 10 years of life. This condition is an X-linked recessive disease, which means only males have OHS. Symptoms include:

  • cutis laxa
  • stomach issues such as hernias
  • muscle weakness

OHS is associated with milder cutis laxa symptoms.

Autosomal Dominant Cutis Laxa (ADCL)

ADCL symptoms can start any time from birth to young adulthood. This condition is an autosomal-dominant disorder, which means both males and females can be affected.

Many people have only cutis laxa symptoms. Others can also have lung and heart problems, including emphysema.

Autosomal Recessive Cutis Laxa (ARCL)

This condition has six different subtypes, depending upon the gene affected. Each individual condition has specific symptoms. For example, the subtype ARCL1A causes cutis laxa, hernias, and lung conditions.

Gerodermia Osteodysplasticum (GO)

GO affects babies and young children. It’s an autosomal recessive disorder, so both males and females are affected. Symptoms include loose skin, typically on the hands, feet, and stomach.

MACS Syndrome

This condition causes both males and females to have a larger-than-usual head, which is called macrocephaly. Additional symptoms include:

  • short stature
  • sparse hair
  • cutis laxa

Acquired Cutis Laxa

Some people have symptoms, but don’t have the genetic changes associated with cutis laxa. This type of cutis laxa is known as acquired cutis laxa. This condition mostly affects older adults.

The exact cause of acquired cutis laxa is unknown. However, researchers have considered possible explanations, such as an autoimmune disorder or infection.

What Are the Symptoms of Cutis Laxa?

Symptoms of cutis laxa usually depend upon the exact type of the disorder. The shared symptom is loose, wrinkled skin (elastolysis). Unlike other skin disorders, cutis laxa doesn’t cause easy bruising or scarring.

People with cutis laxa also have internal problems, such as abdominal aortic aneurysm. A portion of the aorta enlarges or bulges in people with this condition. Another common symptom is emphysema, in which the lungs don’t function properly.

Other symptoms associated with cutis laxa include:

  • developmental delays
  • eyes that are further apart than is typical
  • feeding difficulties in infants
  • fragile bones
  • lax or loose joints
  • low-set ears or ears that aren’t properly formed
  • poor muscle tone
  • short stature
  • slower-than-normal heart rate
  • under-developed lungs

Symptoms can vary, even within a family with a genetic history of cutis laxa. Some people may have more severe symptoms than others.

How Is Cutis Laxa Diagnosed?

A doctor, often a dermatologist, diagnoses cutis laxa. A doctor will start by taking a thorough health history to determine if you have a family history of cutis laxa. Then they’ll perform a physical examination of the skin.

Genetic blood testing can determine which type of cutis laxa you have. This can be helpful for couples who wish to conceive and want to know their risks of passing along cutis laxa to a baby.

How Is Cutis Laxa Treated?

Treatments for cutis laxa depend on your symptoms. A team of specialists — including cardiologists, pulmonologists, dermatologists, and surgeons — may treat the condition.

Cosmetic surgery can tighten skin that is loosened due to cutis laxa. These results may last temporarily, as the skin can often loosen again.

People with cutis laxa should avoid certain activities, including smoking and excess sun exposure. These can make symptoms worse.

How Is Cutis Laxa Prevented?

You can’t prevent cutis laxa because it’s a genetic condition. Acquired cutis laxa can’t be prevented because doctors currently don’t know the exact cause of it. 

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