Pseudoxanthoma elasticum-like phenotypes: More diseases than one

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 PXElike skin findings in patients with mutations in GGCX critical for gamma-carboxylation of gla-proteins. This report expands the clinical spectrum of PXE-like conditions and also provides potential insights into the ectopic mineralization process.