An Overview of Cutis Laxa

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Cutis Laxa is a rare disorder that causes a defect or an insufficiency of the body’s connective tissue, affecting the normal structural framework of the skin, muscles, joints, and sometimes, internal organs. Generally, cutis laxa is characterized by saggy, loose, wrinkly, and inelastic skin, especially around the face, neck, arms, legs, and torso.

Close up of Caucasian woman's aging neck
John Fedele / Getty Images

These skin symptoms alone are sometimes referred to as "cutis laxa" as well. There are many different types of cutis laxa, and this determines the other body parts and organs it affects in addition to the skin. It can affect connective tissues in organs such as the heart, blood vessels, lungs, and intestines. In some cases, the joints may be looser than normal as a result of soft ligaments and tendons.

Cutis Laxa is very rare and affects somewhere between 200 to 400 families around the world. It can be inherited or acquired, although it is typically inherited.


The symptoms, as well as how severe they are, really depend on the type or sub-type of cutis laxa an individual has. However, droopy, inelastic skin is present in all kinds of cutis laxa. There are many different types, sub-types, and classifications of cutis laxa but these are the major ones:

Autosomal Dominant Cutis Laxa (ADCL)

This is a mild type of cutis laxa, and sometimes only skin symptoms are experienced with ADCL. There may also be distinctive facial features like a high forehead, large ears, a beak-like nose, and the middle indentation above the upper lip may be longer than normal. Other symptoms, though not particularly common with this type of cutis laxa, are hernias, emphysema, and heart issues. In some cases, these symptoms are not observed until young adulthood.

Autosomal Recessive Cutis Laxa (ARCL)

Autosomal Recessive Cutis Laxa is divided into six sub-types:

  • ARCL1A: The symptoms of this sub-type are hernias, lung issues like emphysema, and the customary cutis laxa skin symptoms.
  • ARCL1B: This sub-type has symptoms like abnormally long and thin fingers and toes, loose joints, fragile bones, hernias, and cardiovascular system problems. Other common symptoms of ARCL1B are distinctive facial features like wide-spaced eyes, a small jaw, and abnormally shaped ears, as well as loose and wrinkly skin.
  • ARCL1C: Skin symptoms and serious lung, stomach, intestinal, and urinary issues are the main indicators of this sub-type. Other symptoms are low muscle tone, growth delays, and loose joints.
  • ARCL2A: Hernias, nearsightedness, seizures, and developmental delays are some of the major the symptoms of this sub-type. Also, the wrinkly skin tends to get better with age.
  • ARCL2B: In this, the usual skin symptoms are present, but they’re more pronounced in the arms and legs. There’s also the presence of developmental delays, intellectual disabilities, looseness of joints, a small head size, and skeletal abnormalities.
  • ARCL3: Also known as De Barsy syndrome, the symptoms of this sub-type of cutis laxa are growth delays, mental developmental delays, cataracts, loose joints, and wrinkly skin. In addition, other skin issues asides from the regular cutis laxa may be present.

Occipital Horn Syndrome

The development of bony growths on the occipital bone (at the base of the skull), which are visible with X-ray, is one of its identifying symptoms. Skeletal abnormalities, developmental delays, muscle weakness, as well as cardiovascular, lung-related, urinary, and gastrointestinal issues are common with this sub-type.

MACS Syndrome

MACS stands for (M)acrocephaly, (A)lopecia, (C)utis laxa, (S)coliosis. This sub-type is very rare and the main symptoms of it are an extremely large head (macrocephaly), partial or total hair loss (alopecia), the usual skin looseness of cutis laxa, and a deformed curve of the spine (scoliosis).

Gerodermia Osteodysplasticum (GO)

Its symptoms are hernias, osteoporosis, and distinctive facial features like underdeveloped cheeks and a jutting jaw. The usual skin symptoms are more visible on the face, stomach, hands, and feet.

Acquired Cutis Laxa

In this type of cutis laxa, the wrinkly, loose skin may be confined to one area or it may spread throughout the entire body. In some cases, there are identifiable issues with the lungs, blood vessels, and intestines.

With the exception of those tied to acquired cutis laxa, all of the symptoms discussed above are usually present and observable from birth and early childhood.


Inherited Cutis laxa is caused by mutations in certain genes that are mainly responsible for the formation of connective tissue.

Autosomal Dominant Cutis Laxa (ADCL) is caused by mutations in the Elastin (ELN) gene. MACS syndrome is caused by mutations in the RIN2 gene. Gerodermia Osteodysplasticum (GO) is caused by mutations in the GORAB (SCYL1BP1) gene. Occipital Horn Syndrome is caused by mutations in the ATP7A gene.

Changes/mutations in the following genes cause each of the subtypes of Autosomal Recessive Cutis Laxa (ARCL):

  • ARCL1A: Caused by a mutation in the FBLN5 gene
  • ARCL1B: Caused by a mutation in the FBLN4 (EFEMP2) gene
  • ARCL1C: Caused by a mutation in the LTBP4 gene
  • ARCL2A: Caused by a mutation in the ATP6V0A2 gene
  • ARCL2B: Caused by a mutation in the PYCR1 gene
  • ARCL3: Caused by a mutation in the ALDH18A1 gene. People with these subtypes are also found to have mutations in the PYCR1 and ATP6V0A2 genes.

Although the cause of acquired cutis laxa is currently unknown, medical observation links it to exposure to certain environmental factors like autoimmune conditions, certain medications like isoniazid and penicillin, infections, severe illnesses, and inflammatory diseases like celiac disease.


Cutis laxa is usually diagnosed by physical examination. The healthcare provider (preferably a dermatologist or geneticist) will examine your skin and also make a determination of the specific type of cutis laxa you have by identifying the features associated with each.

The healthcare provider will also use family medical history and, sometimes, specialized testing/examination to know which specific type of cutis laxa you have. The two major tests used to diagnose cutis laxa are:

  • Genetic testing: Also called molecular genetic testing, this test is capable of diagnosing inherited cutis laxa and also sometimes identifying the particular sub-type.
  • Skin biopsy: The healthcare provider may surgically remove a small bit of the affected skin and examine it microscopically to see if there are any markers of changes in its elastic fibers.


Treatment of cutis laxa strongly depends on the type of cutis laxa you have. The management of the condition is also limited to treating your symptoms. Once cutis laxa has been diagnosed, you will undergo many evaluations—cardiovascular tests like an electrocardiogram (ECG) and chest X-rays, and lung tests such as pulmonary function tests. These tests are done to identify which (if any) of your organs are affected by cutis laxa and to what extent.

After these tests, you will then be treated for the individual issues discovered. For example, if you have a hernia, you may undergo surgery to repair it. You may also have to undergo surgery to repair any skeletal malformations you may have.

There’s no treatment per se for the skin symptoms but you may choose to undergo plastic surgery to improve the appearance of your skin. These surgeries are usually successful and have good outcomes, but in the long run, the loose and saggy skin may reappear.

Your healthcare provider may also prescribe drugs like beta-blockers to prevent aortic aneurysms from occurring. Further, you'll likely be required to return to the hospital at regular intervals for continuous monitoring.

Lifestyle Changes

If you have cutis laxa, it's advisable that you are aware of some lifestyle choices that may worsen your condition and its symptoms. The major one is smoking because this worsens emphysema—one of the major symptoms of cutis laxa that’s characterized by damaged lung tissue and causes shortness of breath. Also, sunbathing or suntanning may damage your skin.

A Word From Verywell

It is natural to feel overwhelmed if you’ve been diagnosed with cutis laxa, especially if your symptoms are not just skin-related. Accordingly, you should consider seeing a therapist, as you may strongly benefit from the psycho-social support. In addition, it’s advisable that you and your family members undergo genetic testing and counseling, especially if you or any of them are considering having children in the near future.

Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
  • Cutis Laxa Internationale. What is Cutis Laxa? Types, Symptoms, Causes, Diagnosis and Treatment.

  • NORD (National Organization for Rare Disorders). Cutis Laxa.

  • University of Pittsburgh. FAQ | Cutis Laxa.

By Tolu Ajiboye
Tolu Ajiboye is a health writer who works with medical, wellness, biotech, and other healthcare technology companies.