Pseudoxanthoma elasticum - "The multifaceted disorder"

Abstract

Pseudoxanthoma elasticum (PXE) is a hereditary disorder that mainly involves the skin, eyes, and cardiovascular system. We report a case of a patient showing cobblestone-like yellowish papules over her neck and hands. There was a presence of calcifications below the chin that pointed at an initial diagnostic hint of PXE. A skin-biopsy specimen was taken and was stained with hematoxylin and eosin (H and E) that revealed fragmentation of the elastic fibers. On special staining, degeneration and calcification of the elastic fibers were seen that showed clumping in some areas of the dermis. These features were suggestive of histopathological diagnosis of PXE.