Cutis Laxa

Cutis Laxa is a rare genetic disorder characterized by loose, sagging skin that lacks elasticity. The condition can also affect connective tissues in other parts of the body, including the heart, blood vessels, joints, and lungs.

Symptoms

The primary symptom of Cutis Laxa is loose, sagging skin that hangs in folds. The skin often has a leathery texture and is extremely stretchy. Other symptoms can include:

• Premature aging appearance
• Joint laxity
• Cardiovascular problems such as aneurysms and arterial dilation
• Respiratory problems
• Growth retardation
• Intellectual disability (in some types)

Causes

Cutis Laxa can be caused by mutations in several different genes, including ELN, FBLN5, ATP6V0A2, PYCR1, and ALDH18A1. These genes are involved in the formation and function of elastic fibers, which are crucial components of connective tissues. Mutations in these genes disrupt the production or function of these fibers, leading to the characteristic symptoms of Cutis Laxa.

Diagnosis

Diagnosis of Cutis Laxa typically involves a physical examination and a review of the patient's medical and family history. Genetic testing can confirm the diagnosis and 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 to improve joint mobility
• Regular monitoring for cardiovascular and respiratory problems
• Surgery to remove excess skin (in severe cases)

Prognosis

The prognosis for individuals with Cutis Laxa varies widely depending on the specific type of the disorder and the severity of symptoms. Some individuals have a normal lifespan with relatively mild symptoms, while others may experience serious complications such as heart problems and respiratory failure.

See also

• Ehlers-Danlos syndrome
• Marfan syndrome
• Loeys-Dietz syndrome