Pseudoxanthoma elasticum: dermoscopic findings and review of the literature

Pseudoxanthoma elasticum (PXE) is a rare heritable metabolic disorder that predominantly affects the skin, eyes and cardiovascular system. The disease is primarily caused by mutations in the ABCC6 gene, leading to progressive mineralization and fragmentation of elastic fibers. Clinical manifestations result from the calcification and degeneration of these fibers, with more severe complications resulting from ocular and cardiovascular involvement. Skin findings are the hallmark of PXE and nearly always serve as the first clue for diagnosis. However, diagnosing PXE remains challenging due to the asymptomatic and subtle nature of skin manifestations, as well as the rarity of the disease. The objective of this thesis is to describe the dermoscopic characteristics of PXE through the presentation of two cases and to review the existing literature on dermoscopic findings in PXE. In this study, we present the clinical and dermoscopic findings of two patients diagnosed with PXE. Additionally, a comprehensive review of the literature was conducted to identify the dermoscopic characteristics of PXE. In the literature, the main dermoscopic features of PXE include yellowish-white globules, reticulated vessels, and a red to purplish-red background. In our patients, we observed the same characteristic features, confirming the findings reported in the literature. Dermoscopy can aid in the diagnosis of pseudoxanthoma elasticum, even in cases where skin lesions are mild or subtle. However, further studies are needed to establish standardized dermoscopic criteria for PXE.