Pseudoxanthoma elasticum: the paradigm of ectopic mineralization disorders – diagnosis and treatment

Abstract

Pseudoxanthoma elasticum (PXE) is a prototypic heritable disorder of ectopic mineralization, manifesting with characteristic skin findings, ocular involvement and cardiovascular problems, with considerable morbidity and mortality. The clinical manifestations are of late onset, yet progressive, resulting in loss of visual acuity and occasionally leading to blindness. Cardiovascular problems include hypertension, intermittent claudication, occasional hemorrhagic bleeding and early myocardial infarcts. The classic form of the disease is inherited in an autosomal recessive fashion due to loss-of-function mutations in the ABCC6 gene. PXE-like cutaneous changes can also be observed in other ectopic mineralization disorders due to mutations in the GGCX or ENPP1 gene. In addition, a number of unrelated acquired and heritable conditions can mimic the cutaneous findings of PXE. Thus, accurate diagnosis, aided by skin histopathology and mutation analysis, is required for proper classification with prognostic implica...