From the Research
Pseudoxanthoma elasticum (PXE) typically presents during adolescence or early adulthood, with most cases being diagnosed between the ages of 10 and 30 years. The condition is characterized by the degradation and fragmentation of elastic fibers and calcium deposits in the dermis, leading to yellowish papules or plaques in flexural areas [ 1 ]. According to a study published in 2024, PXE is usually diagnosed in the second decade of life [ 1 ]. However, the timing of symptom onset can vary considerably among patients, and the condition can sometimes manifest in early childhood or remain undiagnosed until middle age.
Key Points
- PXE is a progressive disorder with variable expressivity
- Initial manifestations often include characteristic skin changes, such as small, yellowish papules or plaques in flexural areas
- The gradual nature of symptom development contributes to delayed diagnosis in many cases
- PXE is caused by mutations in the ABCC6 gene, which leads to progressive calcification and fragmentation of elastic fibers in various tissues over time
The most recent and highest quality study, published in 2024, supports the idea that PXE typically presents during adolescence or early adulthood [ 1 ]. This study highlights the importance of early recognition and diagnosis of PXE, as it can lead to serious ocular and cardiovascular complications if left untreated. Therefore, it is essential to consider PXE in the differential diagnosis of patients presenting with characteristic skin changes or ocular symptoms, particularly during adolescence or early adulthood.