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Cutis laxa is an extremely rare degenerative disorder affecting connective tissue of the body. It triggers hyperelasticity in affected tissues, causing them to sag and droop, and is most visibly observed in its effect on the skin. In some patients, skin may hang loose and wrinkled, and severe cases might affect tissues surrounding vital organs. Internal organs and systems also might be affected, often causing serious or even fatal complications.
Connective tissues are responsible for holding the parts of the body in place. Muscles, bone, skin and organs are all supported by connective tissues. Elasticity is a critical property of this tissue, which allows the parts to move, stretch and snap back into position. Hyperelasticity erodes this ability so that the tissues hang limp, unable to provide the required support.
Many patients with cutis laxa display only symptoms that affect the skin. Deep skin folds might be most pronounced around the face, neck, thighs and shoulders. Although this form of the disorder can be considered mild and is not especially dangerous, its effects can be far more serious. The skin deformity can have a major effect on the sufferer’s social interaction and self image, especially when the face is affected.
Sagging skin is the most obvious sign of the disorder, but other forms of cutis laxa affect internal structures. Blood vessels, for instance, might be narrowed or bulging without sufficient support, making the work of the heart more difficult. Complications involving internal organs and systems include a host of serious conditions, such as emphysema, diverticula, hernia, anemia and osteoporosis. Some complications of cutis laxa are extremely serious and can be life threatening.
Most forms of cutis laxa are inherited, with approximately 200 families worldwide known to be at risk. Within those families, no subgroup is particularly at risk, with the condition afflicting both genders and all age groups equally. Some forms of the condition can, however, be acquired, and cases have been attributed to drug reactions and eczema. Patients under treatment for Wilson’s disease are potentially at risk for developing cutis laxa.
Treatment options depend on the severity of the condition and the areas affected. There is no cure for cutis laxa, nor is there any method for slowing its progress. Regular monitoring can help identify complications before they become dangerous. Cosmetic surgery might be an option for tightening skin, especially around the face, but often, the results are temporary because the connective tissue will continue to sag.
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