Cutis laxa

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Cutis laxa

Cutis laxa (pronunciation: /ˈkjuːtɪs ˈlæksə/) is a rare, usually inherited disorder where the skin becomes inelastic and hangs loosely in folds.

Etymology

The term "cutis laxa" is derived from Latin, where "cutis" means skin and "laxa" means loose.

Definition

Cutis laxa is characterized by skin that is loose, hanging, and wrinkled. In some cases, the condition can also affect connective tissues in other parts of the body, including the heart, blood vessels, lungs, intestines, and pelvic organs. The severity of the condition and its associated signs and symptoms can vary widely.

Symptoms

Symptoms of cutis laxa can vary widely depending on the specific type and severity of the condition. They may include:

  • Loose, sagging skin, especially on the face and hands
  • Premature aging appearance
  • Respiratory problems
  • Cardiovascular problems
  • Gastrointestinal problems
  • Joint laxity and skeletal abnormalities

Causes

Cutis laxa can be caused by mutations in a number of different genes. Most of these genes are involved in the formation and function of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue throughout the body.

Diagnosis

Diagnosis of cutis laxa is based on the characteristic physical findings and confirmed by skin biopsy. Genetic testing may be used to identify the specific gene mutation causing the condition.

Treatment

There is currently no cure for cutis laxa. Treatment is symptomatic and supportive and may include physical therapy, respiratory therapy, and surgery to remove excess skin.

Related Terms

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