Pseudoxanthoma Elasticum
Irina Margaritescu, MD, DipRCPath
Key Facts
Terminology
Inherited disorder characterized by fragmentation and progressive calcification of elastic tissue in dermis, blood vessels, and Bruch membrane of eye
Microscopic Pathology
Elastic fibers are fragmented, swollen, and clumped in middle and deep reticular dermis
Positive stain for elastic fibers (Verhoeff van Gieson) and calcium deposition (von Kossa)
Diagnostic Checklist
Major criteria
Flexural yellow cobblestone lesions
Characteristic histological features of lesional skin
Angioid streaks in retina
Minor criteria
Characteristic histological changes in non-lesional skin
Family history of PXE in 1st-degree relatives
 Clinical photograph shows a slightly pebbly surface of the lateral aspect of the neck  with a plucked-chicken appearance in this 30-year-old woman with PXE. |
 Basophilic granular material  amidst collagen fibers in the middle and deep reticular dermis represents degenerative changes affecting the elastic fibers in PXE. |
TERMINOLOGY
Abbreviations
Pseudoxanthoma elasticum (PXE)
Synonyms
Systematized elastorrhexis; Grönblad-Strandberg syndrome
Definitions
Inherited disorder characterized by fragmentation and progressive calcification of elastic tissue in dermis, blood vessels, and Bruch membrane of eye
ETIOLOGY/PATHOGENESIS
Etiology
Mutations in ABCC6 gene, mapped on 16p13.1
Encodes a cellular transport protein ABCC6/MRP6 (multidrug resistance-associated protein 6)
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