Author: Assoc Prof Patrick Emanuel, Dermatopathologist, Auckland, New Zealand. January 2015.
Pseudoxanthoma elasticum (PXE) is a rare connective tissue disorder involving fragmentation and mineralisation of elastic fibres, predominantly in the skin, eyes, and cardiovascular system. PXE has been associated with more than 110 different mutations in the ABCC6 gene.
Histology of pseudoxanthoma elasticum
In PXE, elastic fibres of the reticulardermis are short and fragmented. The abnormal fibres are basophilic and evident on H-E sections. Rarely, the abnormal fibres elicit a granulomatous reaction (figures 1, 2, 3).