Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE), also known as Grönblad–Strandberg syndrome, is a rare, inherited disorder that causes calcium and other minerals to accumulate in the body's soft tissues. This accumulation can result in changes to the skin, eyes, cardiovascular system, and gastrointestinal system.

Signs and Symptoms

The signs and symptoms of PXE vary widely among affected individuals. Some people may have severe symptoms, while others may have only mild signs of the disorder. The most common symptoms include:

Skin changes: The skin may become loose, saggy, and wrinkled. It may also develop small, yellowish bumps.
Eye changes: PXE can cause changes to the retina, which can lead to vision loss.
Cardiovascular problems: PXE can cause narrowing of the blood vessels, which can lead to heart disease and stroke.
Gastrointestinal problems: Some people with PXE may experience gastrointestinal bleeding.

Causes

PXE is caused by mutations in the ABCC6 gene. This gene provides instructions for making a protein that is involved in the transport of certain molecules across cell membranes. Mutations in the ABCC6 gene disrupt this transport process, leading to the accumulation of minerals in the body's soft tissues.

Diagnosis

The diagnosis of PXE is based on the presence of characteristic signs and symptoms, a family history of the disorder, and genetic testing to identify mutations in the ABCC6 gene.

Treatment

There is currently no cure for PXE. Treatment is aimed at managing the symptoms and preventing complications. This may include regular eye exams to monitor for changes in vision, medications to manage cardiovascular problems, and surgery to remove excess skin.

References

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