Pseudoxanthoma is a medical term that refers to a rare hereditary disorder characterized by the abnormal calcification and fragmentation of elastic fibers in various tissues and organs of the body. The condition primarily affects the skin, eyes, and cardiovascular system.
In pseudoxanthoma, the elastic fibers that provide flexibility and strength to tissues, such as blood vessels, skin, and eye structures, become abnormally calcified, leading to their degeneration and structural abnormalities. This can result in various clinical manifestations, including skin changes, visual impairments, and cardiovascular complications.
Skin changes associated with pseudoxanthoma often include yellowish, cobblestone-like plaques on flexural areas such as the neck, underarms, or groin. In the eyes, abnormalities in the retina, specifically Bruch's membrane, can lead to visual disturbances such as blurred vision, central vision loss, or even legal blindness. Furthermore, the calcification and degeneration of elastic fibers in blood vessels can increase the risk of cardiovascular problems, including hypertension, angina, and stroke.
Pseudoxanthoma is an autosomal recessive disorder, meaning that individuals typically inherit the condition when they receive two copies of the abnormal gene, one from each parent. Diagnosis of pseudoxanthoma is often confirmed through clinical evaluation, skin biopsies, and genetic testing. While there is currently no cure for pseudoxanthoma, management of the condition focuses on symptom relief and preventive measures such as lifestyle changes, regular eye examinations, and appropriate cardiovascular monitoring and treatment.
