Cutis laxa happens to be a disorder of the connective tissue, which is the tissue that forms the body’s supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin.
How is Cutis Laxa defined?
- Cutis laxa is defined as a general term for rather a group of rare disorders that can occur in several inherited (congenital) forms or perhaps acquired at some point during life (acquired cutis laxa).
- This group of disorders does involve a wide spectrum of symptoms and signs that do result from the defects in connective tissue, the material between cells of the body that do give the tissue form and strength.
- Connective tissue is rather found throughout the body in muscles, joints, skin and other organs.
- Cutis laxa is characterized by skin that is rather loose (lax), wrinkled, sagging, redundant, and is also lacking in elasticity (inelastic).
- When stretched, the inelastic skin tends to return to its original position rather abnormally slowly.
- The skin around one’s face, arms, legs as well as the trunk is most commonly affected.
- The term “cutis laxa” is Latin for loose or lax skin, and this condition is also characterized by skin that is usually sagging and not too stretchy (inelastic).
- The skin often hangs in rather loose folds, thus causing the face well as and other parts of the body to have a droopy appearance.
- The skin is extremely wrinkled and this can be much noticed on one’s neck and in the armpits and groin.
How does Cutis laxa affect us?
- Cutis laxa can also, in fact, affect the connective tissues in other parts of the body that include the heart, blood vessels, joints as well as intestines and the lungs.
- The disorder can also cause heart problems as well as abnormal narrowing, be bulging, or be tearing of critical arteries.
- Affected individuals may also have soft out-pouchings in the lower abdomen (an inguinal hernia) or perhaps around the belly button (an umbilical hernia).
- Pouches called diverticula can also develop in the walls of certain organs, such as the bladder as well as intestines. During childhood, some people suffering from cutis lax do develop a lung disease called emphysema, which can also make it difficult to breathe.
- Depending on which of organs and tissues are affected, the signs cum symptoms of cutis laxa can also range from mild to even life-threatening.
How adults and children are affected?
- The abnormal skin may, in fact, make the affected individuals and children look prematurely-aged in appearance and much older than they actually are.
- Unlike the similar type of skin disorders, easy bruising, as well as scarring, are usually not associated with cutis laxa.
- The joints are often abnormally loose (hypermobility) because of lax ligaments and tendons.
- Several inherited forms of such disorders need to be identified.
- Most of these cases are inherited as either an autosomal dominant or recessive disorder.
- An X-linked form of cutis laxa, also known as occipital horn syndrome, is now, of course, considered a milder form of disorders of copper metabolism caused by a mutation in the ATP7A gene and is not discussed in this report.
Researchers have also described several different types of cutis laxa. The forms are often identified in a separate way by their respective pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms of cutis laxa actually are more severe than the autosomal dominant forms. In addition to the features described above, some people with autosomal recessive cutis laxa have delayed development, intellectual disability, seizures, and problems with movement that can worsen over time.
The X-linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is actually considered to be a mild type of Menkes syndrome, which is a condition that does affect. Apart from sagging and inelastic skin, occipital horn syndrome is also characterized by the wedge-shaped type of calcium deposits in a bone located at the base of the skull (the occipital bone), coarse hair, as well as loose joints.
Signs & Symptoms
- Cutis laxa does encompass a wide variety of disorders.
- The specific symptoms that are present and the severity, as well as prognosis, can also very much greatly depending upon the specific type of cutis laxa and the presence and also the extent of the associated symptoms.
- The specific symptoms and severity can, in fact, vary even among individuals with the same sort of subtype and even among the members of the same family.
- In addition, some subtypes of cutis laxa have only been reported in a handful of individuals, which does prevent physicians from developing a complete picture of associated symptoms and prognosis.
- Therefore, it is important to note that the affected individuals may not necessarily have all of the symptoms discussed below.
- Affected individuals should, in fact, talk to their physician and medical team about their specific case, associated symptoms as well as overall prognosis.
- Despite the wider variety in presentation, most of the affected individuals to develop the characteristic skin abnormalities as well as joints problems described above.
Cutis laxa can affect your appearance badly and is a serious health issue. Appearance after all matters to all be it young or old. Looking aged early may not be liked at all.