Figure 1.

Clinical features and histopathology of ectopic mineralization in pseudoxanthoma elasticum (PXE). (A) Characteristic early cutaneous signs of PXE consist of discrete yellowish papules at predilection sites, such as sides of the neck. (B) These early lesions coalesce into plaques of inelastic, leathery skin. (C) Staining of a parallel section with von Kossa stain reveals mineralization of the elastotic structures. (D) Characteristic ocular findings consist of angioid streaks, breaks in Bruch’s membrane behind the retina (arrows), which allow neovascularization (arrowheads) of the retina leading to loss of visual acuity and blindness. (E) Histopathology of the left renal artery in a GACI patient with ABCC6 mutations reveals extensive mineralization (Hematoxylin-Eosin stain). Adapted from Li et al (2018 Am. J. Pathol accepted for publication)