What is PXE medical?

What is PXE medical?

Pseudoxanthoma elasticum (PXE) is an inherited disorder caused by mutations in the ABCC6 transporter gene that affects connective tissue in some parts of the body. Elastic tissue in the body becomes mineralized; that is, calcium is deposited in the tissue.

What is Ladd syndrome?

Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital).

How do you treat PXE?

There is no effective and specific treatment for the systemic manifestations of PXE until now, but effective therapies for the ocular complications are currently available (93). All clinical manifestations in the skin, eyes and arterial blood vessels are consequence of calcium phosphate deposition in elastic fibers.

What is PXE in ophthalmology?

Pseudoxanthoma elasticum (PXE) is an inherited systemic disease characterized by changes in the elastic tissue of the skin. Pseudoxanthoma elasticum mainly affects the skin, eyes, heart, and gastrointestinal (GI) system.

Is PXE an autoimmune disease?

Pseudoxanthoma elasticum (PXE) is a rare, inherited disorder of the connective tissue. Possible association of autoimmune thyroiditis and PXE has been suggested, but reports of other autoimmune diseases complicating PXE are rare. We report a case of rheumatoid arthritis (RA) in a patient with PXE.

Where are lacrimal glands?

The tear glands (lacrimal glands), located above each eyeball, continuously supply tear fluid that’s wiped across the surface of your eye each time you blink your eyelids. Excess fluid drains through the tear ducts into the nose.

Is PXE life threatening?

PXE is now a well-characterized, autosomal recessive, metabolic, genetic disease of ectopic mineralization that affects the skin, eye and blood vessels. Although not life-threatening, PXE is associated with a risk of blindness, decreased quality of life and peripheral vascular compromise.

Is PXE hereditary?

PXE is inherited from the parents, either as an autosomal recessive or as an autosomal dominant trait. Identification of the gene responsible for PXE can facilitate the determination of the exact patterns of inheritance. Pseudoxanthoma elasticum is an inherited disorder of elastin.