What is Cutis Laxa?
Cutis laxa, also known as elastolysis, is a group of rare disorders that involve the connective tissue. These conditions make the skin loose, less elastic, and give the appearance of early aging. Cutis laxa can be inherited and this can happen in three different ways – through dominant genes, recessive genes or X-linked recessive genes. The inherited forms can have various ways they show up and are passed down.
There’s also a kind of cutis laxa that develops later in life, which is more common and tends to start showing symptoms with age. When doctors examine the tissues of affected individuals under a microscope, they find that the elastic fibers (which give skin its stretchiness) are scarce and broken up. The reason for this is that there are changes in the genes that cause the production of abnormal proteins, disrupting the structure of these elastic fibers.
For anyone diagnosed with cutis laxa, it’s important to have a detailed step-by-step plan for both diagnosing and treating this condition.
What Causes Cutis Laxa?
Cutis laxa is a condition that occurs when there’s a problem with the structure that makes up the skin and internal organs. This condition can be caused by certain gene changes. One form of cutis laxa, which is inherited from one parent (autosomal dominant cutis laxa), is linked to changes in the elastin gene. These changes can reduce the amount of elastin, a protein in your body, or affect its quality.
X-linked cutis laxa, a type that is passed on by the mother, is related to changes in the ATPA7 gene. This gene is responsible for managing the transport of copper, an essential mineral, in our body.
Another form of cutis laxa, which is passed on by both parents (autosomal recessive cutis laxa), can take two forms: Type 1 and Type 2. These two types come with different additional symptoms. Type 1 is connected to changes in the fibulin-5 gene, while Type 2 is linked to changes in the lysyl oxidase gene.
There is also a version of cutis laxa that you can develop later in life, often following an inflammation-related condition. This inflammation can speed up the breakdown of elastic fibers, the structures that allow your skin and internal organs to stretch and return to their original shape.
Risk Factors and Frequency for Cutis Laxa
Cutis laxa is a condition that doesn’t have an exact prevalence estimate. Its symptoms can appear right at birth or during early childhood. Inherited types of cutis laxa are pretty rare while the acquired ones usually show up later in adult life. It’s important to note that cutis laxa doesn’t favor any specific race or ethnicity.
Signs and Symptoms of Cutis Laxa
Cutis laxa is a condition characterized by loose, sagging skin lacking elasticity. This distinctive characteristic makes the disorder easy to diagnose. Over time, this looseness tends to worsen, leading to an aged appearance. The overall prognosis of cutis laxa depends on the severity of related internal organ disorders.
There are several types of cutis laxa:
- Autosomal Dominant Cutis Laxa: The skin symptoms of this type usually show up late in life. Internal organ issues are either not present or mild, and can include lung issues, hernias, and genital prolapse. Life expectancy is usually normal, but cases of aneurysms, aortic ruptures, and severe lung ailments have been reported.
- X-linked Recessive Cutis Laxa: This type is similar to Ehlers-Danlos syndrome and is considered a variant of Menkes disease but with a better prognosis. Apart from skin symptoms, individuals may also have facial and chest abnormalities, bone outgrowths, narrowing of carotid arteries, bladder and urinary tract diverticula, and overly flexible joints. Individuals often have a lower-than-average intelligence score.
- Autosomal Recessive Cutis Laxa Type 1: This is likely the most severe form of cutis laxa, with skin symptoms appearing early in life. It often is associated with issues such as slowed growth in the womb, facial and skeletal abnormalities, and mental impairment. Life-threatening lung complications may occur, as well as digestive and bladder involvement, and abnormal, bulging arteries.
- Autosomal Recessive Cutis Laxa Type 2: In this type, skin issues typically don’t affect the face, but hands and feet are often involved. Associated conditions can include delayed growth, mental impairment, overly flexible ligaments, and hip dislocation. Acquired forms of cutis laxa, which are more common, occur after skin inflammation and make the skin look aged and flabby.
Severe respiratory failure could develop due to an excessive breakdown of elastic fibers in the lung tissues. This widespread breakdown of these fibers usually results in a poor prognosis. The causes are mostly unknown but can occur after drug reactions, or diseases like amyloidosis and Still’s disease. Localized forms of this condition typically affect the limbs and can be associated with conditions like rheumatoid arthritis, syphilis, multiple myeloma, and sarcoidosis. An acral variant that involves the face and limbs has also been reported.
Testing for Cutis Laxa
Diagnosing cutis laxa, a skin condition, may seem straightforward, but confirming it can be tricky, especially when determining how it was inherited. This process should be handled by a team of professional with experience in this area. There’s no need for a skin biopsy to diagnose the condition, and molecular diagnosis is primarily used within research.
While it can’t always be done, molecular diagnosis might allow doctors to identify the condition before a baby is born in certain families. It’s crucial to methodically check for any related internal complications in a well-planned way.
Treatment Options for Cutis Laxa
At present, there isn’t a specific treatment available that can stop or cure cutis laxa, a condition that leads to loose or saggy skin. The skin condition does not improve on its own, but plastic surgery can significantly improve the skin’s appearance. This is true even when there are additional health problems beyond the skin. Surgery for this condition is usually straightforward as there aren’t usually problems with wound healing, blood clotting, or fragile skin, unlike in similar conditions such as Ehlers-Danlos syndrome. However, it’s important to note that improvements from surgery might be temporary, and the condition could return. In dealing with cutis laxa, it’s necessary to use a team-based approach to patient care as it often affects other internal organs too.
Though cosmetic surgery is the best-known form of treatment for cutis laxa, it must be approached with care due to the high possibility that the condition could return, especially in patients with other ongoing health conditions. For this reason, it’s advised that a detailed process of diagnosis and treatment be mapped out for anyone living with cutis laxa.
Before going into surgery, patients must complete necessary checks like abdominal and heart ultrasound scans, to make sure there are no conditions present that would make surgery risky. It might also be helpful to involve psychological counseling to discuss the potential risks from surgery and the likelihood of the condition returning. After surgery, patients should use scar creams and pressure masks to lessen scarring.
Laser therapy using a specific carbon dioxide fractional laser system has shown to be successful in improving skin texture. In the case of cutis laxa, laser therapy may work by encouraging the growth of elastic fibers in the skin. So, combining surgery with laser therapy could potentially enhance the long-term result of treatment. Botulinum toxin injections, the same substance used in Botox, could offer a less invasive way to improve facial defects in these patients, particularly in those where the condition appeared suddenly or is confined to a specific area.
What else can Cutis Laxa be?
Cutis laxa, a condition that makes skin loose and saggy, can be confused with several other conditions. They include:
- Normal aging: As we age, skin typically loses elasticity, becomes thinner and drier, and develops fine lines and wrinkles. Age spots may appear, and skin may bruise more easily.
- Pseudoxanthoma elasticum: This inherited condition affects the connective tissue in various parts of the body due to gene mutation. It results in changes of the skin, eyes, cardiovascular and gastrointestinal systems. People with this condition may have excess, wrinkled skin that’s hyperelastic, and loose joints are common. Symptoms can start in early childhood or later in life.
- Pseudoxanthoma elasticum–like disorder: Similar to pseudoxanthoma elasticum, people with this condition might also experience saggy and lax skin due to deficiencies in multiple coagulation factors.
- Mid-dermal elastolysis: This condition is characterized by areas of fine wrinkling, usually seen in sun-exposed areas like the upper body, side of the neck, and upper arms.
- The “Michelin tire baby” phenotype: Named after the Michelin tire mascot, children with this condition have circular skin creases on their arms and legs. However, these folds are due to excess tissue, not loose skin.
- Ehlers-Danlos syndrome: This group of genetic disorders affects connective tissues and is characterized by hyperextensible skin, tissue fragility, and overly flexible joints. Unlike cutis laxa, skin in Ehlers-Danlos syndrome stretches easily but also retracts quickly. Skin tests can help differentiate these two conditions – for instance, collagen fibers in Ehlers-Danlos patients appear loose and disordered, while in those with cutis laxa, they look normal.
- Hutchinson-Gilford progeria syndrome (progeria): This severe and rare disorder causes rapid aging in children, who typically die from a heart attack or stroke in their teens. Besides facial abnormalities and hair loss, individuals with progeria have skin and joint symptoms that can help distinguish it from cutis laxa.
These conditions share some symptoms with cutis laxa but have distinctive features that help in diagnosis.
What to expect with Cutis Laxa
People with cutis laxa, a skin condition, normally live healthy, normal lives if the condition only affects their skin. However, if the condition extends to the internal organs, particularly the lungs, it can lead to a poor health outlook. The most severe form of cutis laxa is the one that’s inherited through an autosomal recessive pattern.
Possible Complications When Diagnosed with Cutis Laxa
In simple terms, there are two types of a condition known as cutis laxa. The first type, called the autosomal dominant form, usually does not come with severe complications. However, the second type, called the autosomal recessive form, can lead to serious health issues. These issues can include complications in the reproductive and digestive systems such as outpouchings (diverticula), a condition of a hole in the diaphragm (diaphragmatic hernia), lung disease (emphysema), and extreme heart and lung disease that could, unfortunately, lead to death early in life.
Then there’s a different kind called acquired cutis laxa, which often takes place in adults over the age of 20. This form has been observed to lead to problems within the body, mostly due to the breakdown of elastic fibers and loss of support in various tissues.
Here are the potential complications:
- Diverticula in the digestive and reproductive systems
- Diaphragmatic hernia
- Emphysema
- Severe lung and heart disease leading to death
- Breakdown of elastic fibers in body tissues
- Loss of tissue support in the lungs, digestive system, heart, and reproductive system
