Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that affects the connective tissues in the body. It is characterized by the calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system. Symptoms may include yellowish papules on the skin, vision problems, and cardiovascular complications. There is no cure for PXE, but treatments are available to manage symptoms.

The most common symptoms of Pseudoxanthoma Elasticum (PXE) include:

-Yellowish-brown, waxy skin Lesions on the neck, armpits, groin, and/or eyelids

-Blurred vision

-Poor night vision

-Angioid streaks (irregular, dark lines in the retina)

-Gastrointestinal problems, such as difficulty swallowing, abdominal pain, and/or diarrhea

-Cardiovascular problems, such as hypertension, stroke, and/or heart attack

-Musculoskeletal problems, such as joint pain, muscle weakness, and/or bone fractures

-Kidney problems, such as kidney stones and/or kidney failure

-Neurological problems, such as seizures, headaches, and/or dementia

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by mutations in the ABCC6 gene. This gene provides instructions for making a protein that helps regulate the levels of certain minerals in the body. Mutations in the ABCC6 gene lead to an accumulation of calcium and other minerals in the elastic fibers of the skin, eyes, and cardiovascular system. This accumulation causes the characteristic signs and symptoms of PXE.

1. Dietary modifications: Patients with Pseudoxanthoma Elasticum (PXE) may benefit from dietary modifications, such as avoiding foods high in oxalates, which can worsen the condition.

2. Vitamin C supplementation: Vitamin C supplementation may help reduce the risk of complications associated with PXE.

3. Topical treatments: Topical treatments, such as retinoids, may help reduce the appearance of skin lesions associated with PXE.

4. Laser therapy: Laser therapy may be used to reduce the appearance of skin lesions associated with PXE.

5. Surgery: Surgery may be used to remove skin lesions associated with PXE.

6. Medications: Certain medications, such as angiotensin-converting enzyme (ACE) inhibitors, may be used to reduce the risk

1. Genetic mutation: Pseudoxanthoma Elasticum is caused by a mutation in the ABCC6 gene.

2. Family history: Having a family history of Pseudoxanthoma Elasticum increases the risk of developing the condition.

3. Age: Pseudoxanthoma Elasticum is more common in adults over the age of 40.

4. Gender: Women are more likely to develop Pseudoxanthoma Elasticum than men.

5. Ethnicity: Pseudoxanthoma Elasticum is more common in people of European descent.

There is no cure for Pseudoxanthoma Elasticum (PXE). However, there are medications that can help manage the symptoms and slow the progression of the disease. These medications include angiotensin-converting enzyme (ACE) inhibitors, calcium channel blockers, and statins. Additionally, lifestyle modifications such as avoiding smoking, maintaining a healthy diet, and exercising regularly can help reduce the risk of complications associated with PXE.