Pseudoxanthoma elasticum-like phenotypes: More diseases than one

Abstract

The classic pseudoxanthoma elasticum (PXE) phenotype derives from mutations in ABCC6. PXE-like phenotypes have been observed in a number of disorders, with no evidence of mutations in ABCC6. Vanakker et al. report PXE-like skin findings in patients with mutations in GGCX critical for γ-carboxylation of gla-proteins. This report expands the clinical spectrum of PXE-like conditions and also provides potential insights into the ectopic mineralization process. © 2007 The Society for Investigative Dermatology.