Pseudoxanthoma elasticum

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Pseudoxanthoma elasticum (pronunciation: soo-doh-zan-thoh-ma eh-las-ti-kum) is a rare genetic disorder that affects the connective tissue in the body. The term is derived from the Greek words "pseudo" meaning false, "xanthoma" meaning yellow tumor, and "elasticum" referring to the elastic nature of the affected tissues.

Definition

Pseudoxanthoma elasticum, also known as PXE, is characterized by the fragmentation and calcification of elastic fibers, which are components of the connective tissue. This primarily affects the skin, eyes, and cardiovascular system, leading to a range of symptoms and complications.

Symptoms

The symptoms of PXE can vary greatly between individuals. Common symptoms include yellowish bumps on the skin (particularly on the neck, underarms, and other flexural areas), changes in vision due to macular degeneration, and cardiovascular problems such as angina and intermittent claudication.

Causes

PXE is caused by mutations in the ABCC6 gene. This gene is responsible for producing a protein that plays a key role in the transport of certain molecules across cell membranes. The exact mechanism by which mutations in this gene lead to the symptoms of PXE is not fully understood.

Diagnosis

Diagnosis of PXE is based on clinical examination, patient history, and genetic testing. Skin biopsy may also be performed to examine the elastic fibers under a microscope.

Treatment

There is currently no cure for PXE. Treatment is focused on managing the symptoms and preventing complications. This may include regular eye examinations, cardiovascular screening, and lifestyle modifications such as a healthy diet and regular exercise.

See also

External links

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