The Multifaceted Complexity of Genetic Diseases: A Lesson from Pseudoxanthoma Elasticum

Abstract

Fig. 1. Dermal biopsy from a patient affected by pseudoxanthoma elasticum (PXE). A) Semi-thin section stained with toluidine blue and observed by light microscopy. B) Ultrathin section stained with uranyl acetate and lead citrate visualized by transmission electron microscopy. Deformed, fragmented and mineralized elastic fibres (E) are clearly visible in the reticular dermis of the patient both at low and high magnifications. Collagen flowers (arrows) and electron-dense amorphous aggregates (*) can be recognized at the ultrastructural level. Bar= 1 μm