Which are the symptoms of Pseudoxanthoma Elasticum (PXE)?

Pseudoxanthoma Elasticum (PXE) is a rare genetic disorder that affects the connective tissues in the body, particularly the skin, eyes, and blood vessels. It is characterized by the abnormal mineralization and fragmentation of elastic fibers, leading to various symptoms and complications.

Skin manifestations: One of the primary symptoms of PXE is the presence of yellowish papules or plaques on the skin. These lesions typically appear in flexural areas such as the neck, armpits, groin, and the skin around the eyes. Over time, the affected skin may become lax, saggy, and wrinkled. In some cases, individuals with PXE may also develop small, raised bumps on the palms of their hands and soles of their feet.

Ocular symptoms: PXE can also affect the eyes, leading to various visual impairments. The most common ocular manifestation is angioid streaks, which are breaks in the Bruch's membrane of the retina. These streaks may cause bleeding and scarring, resulting in distorted or blurred vision. Other eye-related symptoms include retinal detachment, macular degeneration, and the formation of small yellowish deposits called peau d'orange on the conjunctiva.

Cardiovascular complications: PXE can have significant effects on the cardiovascular system. Individuals with PXE may experience abnormalities in the blood vessels, including calcification and narrowing. This can lead to hypertension, angina, and an increased risk of heart attack or stroke. In some cases, the blood vessels in the gastrointestinal tract may also be affected, causing gastrointestinal bleeding.

Other symptoms: PXE can affect other organs and systems in the body, although these manifestations are less common. Some individuals may develop abnormalities in the musculoskeletal system, such as joint pain, joint laxity, or osteoarthritis. Additionally, PXE can affect the urinary system, leading to kidney stones or renal failure. Rarely, individuals with PXE may experience hearing loss or develop abnormalities in the respiratory system.

It is important to note that the severity and progression of PXE can vary widely among individuals. Some may experience mild symptoms and lead relatively normal lives, while others may have more severe manifestations that significantly impact their quality of life. Additionally, the age of onset and rate of progression can also differ, with some individuals developing symptoms in childhood and others not experiencing noticeable symptoms until adulthood.

Diagnosis of PXE is typically based on clinical evaluation, family history, and specialized tests such as skin biopsies, ophthalmologic examinations, and imaging studies. While there is currently no cure for PXE, management focuses on symptom relief and preventing complications. Regular monitoring by healthcare professionals specializing in PXE is crucial to detect and address any potential issues early on.