Cutis laxa is a group of rare inherited disorders that primarily affect the body’s connective tissue. Connective tissue is the “fabric” of the body, a complex web of proteins like collagen and elastin that provides strength, support, and elasticity to all of our organs and systems. The hallmark of cutis laxa is a defect in the formation or maintenance of elastic fibers.

To understand this, it is helpful to use an analogy. Think of the fabric of your skin as a high-tech athletic shirt, woven from two types of threads. The strong, structural threads are like collagen, providing strength and preventing tears. Interwoven with these are countless tiny, coiled elastin threads, which give the shirt its stretch and allow it to snap back into its original shape.

• In a person with cutis laxa, there is a fundamental defect in the production or assembly of these crucial elastic threads. The elastin may be weak, fragmented, or improperly formed.
• As a result, the “fabric” of the skin loses its recoil. When stretched, it does not snap back properly. This leads to the characteristic loose, sagging, and prematurely wrinkled skin that defines the condition.

Crucially, this same defective connective tissue is present throughout the body. The lack of functional elastic fibers can weaken the walls of major blood vessels like the aorta, the air sacs of the lungs, and other organs, leading to the serious systemic complications associated with the disease.

In my practice, patients often come in concerned about their appearance, not realizing that the same tissue changes affecting their skin can also affect their lungs, heart, and digestive system.

Cutis laxa is caused by a mutation in one of several different genes that are responsible for the complex process of forming and maintaining healthy elastic fibers. These genes contain the blueprints for proteins that are either direct components of elastic fibers or are essential for their assembly and function.

Some of the key genes that have been identified in different forms of cutis laxa include:

• ELN: This gene provides the instructions for making elastin, the main protein component of elastic fibers.
• FBLN5: This gene encodes a protein called fibulin-5, which is essential for the proper assembly of elastin fibers.
• ATP6V0A2 and ATP7A: These genes are involved in copper metabolism, and copper is a vital cofactor for an enzyme needed to link elastin molecules together.

A mutation in any one of these, or several other identified genes, can disrupt the elastic fiber network and lead to the signs and symptoms of cutis laxa.

I’ve seen how different this condition looks in each person. A genetic diagnosis gives us clarity, and also helps family members understand their own risks.

Cutis laxa is an inherited genetic disorder. It is not contagious. The way it is passed down through families depends on the specific gene that is mutated and the type of the disorder. There are several different inheritance patterns.

• Autosomal Dominant Cutis Laxa: In this pattern, an individual only needs to inherit one copy of the mutated gene from one parent to have the condition. An affected parent has a 50% chance of passing the gene on to each of their children.
• Autosomal Recessive Cutis Laxa: These forms are often more severe. For a child to be affected, they must inherit a mutated gene from both parents. The parents are typically unaffected carriers. Because both parents must carry the same rare faulty gene, the chances of having a child with an autosomal recessive condition are higher in communities where marriage between close relatives is a common cultural practice.
• X-linked Cutis Laxa: A rarer form caused by a mutation on the X chromosome, primarily affecting males.

In some cases, the condition can also arise from a de novo (new) mutation, meaning it occurs for the first time in an individual with no prior family history.

Families often ask me if this could’ve been prevented. I explain that these changes usually begin at the molecular level, sometimes before birth, and there’s nothing they did wrong.

The signs and symptoms of cutis laxa can vary greatly depending on the type of cutis laxa and whether other organs are involved.

The Hallmark Skin Findings

The most visible and consistent feature across all forms is skin change.

• Loose, sagging, inelastic skin that hangs in folds. When stretched, it does not recoil back into place.
• The skin often appears prematurely aged or wrinkled, leading to a “hound-dog” facial appearance with drooping jowls.
• These changes are most prominent on the face, neck, and in areas of skin folds (armpits, groin).

Serious Systemic Symptoms and Complications

The true medical significance of cutis laxa lies in the potential for serious, life-threatening complications due to faulty connective tissue in internal organs.

• Cardiovascular System: This is a major concern.
  • Aortic Aneurysms: The walls of the aorta, the body’s main artery, can become weak and bulge, forming an aneurysm. This creates a high risk of a life-threatening aortic dissection (a tear) or rupture.
  • Other arteries can also be affected, becoming twisted (tortuous).
  • Heart valve problems, like mitral valve prolapse, can occur.
• Pulmonary System:
  • Emphysema: The walls of the air sacs (alveoli) in the lungs rely on elastin to recoil during exhalation. In many forms of cutis laxa, these walls break down, leading to emphysema, even in individuals who have never smoked. This causes progressive shortness of breath.
• Gastrointestinal and Genitourinary Systems:
  • The weakness of connective tissue can lead to the development of various hernias, such as inguinal, umbilical, or hiatal hernias.
  • Diverticula (outpouchings) of the intestines or bladder can also form.
• Skeletal System: Joint laxity, hernias.

In children, the signs can be subtle, just a saggy chin or loose skin on the thighs. But as a physician, I’ve learned to look deeper. A detailed exam often reveals much more than what’s visible on the surface.

Diagnosing cutis laxa can be challenging due to its rarity. The process is usually initiated when a doctor or family member notices the characteristic loose skin, especially in a child who looks prematurely aged. The diagnosis is typically made by a clinical geneticist, often working with a dermatologist.

The diagnostic process involves several steps:

1. Clinical Examination: A thorough physical exam is performed to assess the skin’s elasticity and to look for the associated signs, such as a hooked nose, joint laxity, or a visible heart murmur. A detailed family history is also taken.
2. Skin Biopsy: A skin biopsy is a key diagnostic test. A small piece of skin is taken and sent to a specialized laboratory. Tissue is examined with a powerful electron microscope. A pathologist will look for the structure of the elastic fibers, which in cutis laxa will typically appear fragmented, sparse, or granular.
3. Molecular Genetic Testing: The diagnosis is definitively confirmed with genetic testing. A blood sample is sent for a gene panel that sequences the various genes known to cause cutis laxa. Identifying the specific mutation can help predict the risk of certain complications and is essential for providing accurate genetic counseling.
4. Systemic Evaluation: This includes an echocardiogram to check the aorta, and pulmonary function tests to check for emphysema.

The key to diagnosis is combining what we see with what we test. I’ve seen mild cases missed for years until a patient develops a sudden complication like emphysema or hernia.

There is no cure for cutis laxa, but treatment focuses on managing symptoms and preventing complications. This requires a lifelong partnership with a multidisciplinary team of specialists.

The key management strategies include:

• Cardiovascular Surveillance: This is the most critical aspect of management for many individuals with cutis laxa. Regular, scheduled imaging of the aorta (usually with an echocardiogram or CT/MR angiography) is performed to monitor for the development or growth of an aneurysm.
  • Medications such as beta-blockers or angiotensin receptor blockers (ARBs) may be prescribed to reduce blood pressure and reduce stress on the aortic wall.
  • If an aortic aneurysm reaches a dangerous size, preventative aortic root surgery may be necessary to replace the weakened section of the blood vessel.
• Pulmonary Management: Patients will have regular pulmonary function tests to monitor emphysema. They must be counseled to avoid smoking absolutely. Prompt treatment of all respiratory infections is crucial.
• Surgical Repair of Hernias: Hernias that are large or causing symptoms will require surgical repair.
• Plastic Surgery: Mention that cosmetic surgery can be performed to remove excess, sagging skin, particularly from the face and neck, to improve appearance. However, patients should be aware that because the skin itself is still abnormal, the results may not be as long-lasting as in a typical cosmetic procedure, and the skin may stretch out again over time.
• Physical Therapy: Therapy can help strengthen muscles to provide better support for lax joints.

While we can’t reverse the elasticity loss, we can support patients, physically and emotionally. Care is long-term, but it’s deeply rewarding to help someone move from fear to confidence.

Cutis laxa is a rare group of genetic disorders that goes far beyond its most visible sign of loose, wrinkled skin. It is a systemic connective tissue disease rooted in faulty elastic fibers, which can carry serious risks for internal organs, particularly the heart and lungs. While the diagnosis can be frightening, and there is no cure to fix the underlying defect, a correct diagnosis is the key to life-saving care. Families sometimes feel overwhelmed by the diagnosis, but I remind them, cutis laxa may change appearance, but it doesn’t limit the strength, spirit, or potential of those living with it.

National Organization for Rare Disorders (NORD). (2022). Cutis Laxa. Retrieved from https://rarediseases.org/rare-diseases/cutis-laxa/

National Institutes of Health, Genetic and Rare Diseases Information Center (GARD). (2023). Cutis laxa. Retrieved from https://rarediseases.info.nih.gov/diseases/6221/cutis-laxa

U.S. National Library of Medicine. (2022). Cutis Laxa. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/cutis-laxa