Pseudoxanthoma Elasticum (PXE) synonyms

Pseudoxanthoma Elasticum (PXE) is a rare genetic disorder that affects the connective tissues in the body. It is also known by several other names, including:

• Elastic Pseudoxanthoma


• PXE Syndrome


• Grönblad-Strandberg Syndrome


• Grönblad-Strandberg-Touraine Syndrome


• Angioid Streaks

This condition primarily affects the skin, eyes, and cardiovascular system. The hallmark feature of PXE is the abnormal mineralization and fragmentation of elastic fibers in these tissues. This leads to various symptoms and complications.

Angioid streaks are a common manifestation of PXE, characterized by breaks in the Bruch's membrane of the eye. These streaks can cause visual disturbances and may lead to complications such as retinal hemorrhages or choroidal neovascularization.

PXE can also affect the skin, resulting in yellowish papules that appear on flexural areas such as the neck, armpits, and groin. These papules are caused by the accumulation of abnormal elastic fibers.

The cardiovascular system can be affected by PXE, leading to vascular complications such as arterial calcification, hypertension, and an increased risk of cardiovascular disease.

While PXE is a genetic disorder, it is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Diagnosis of PXE is typically based on clinical findings, skin biopsies, and genetic testing. Unfortunately, there is currently no cure for PXE, and treatment mainly focuses on managing symptoms and preventing complications.