¹Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

Correspondence: Dr Jouni Uitto, Department of Dermatology and Cutaneous Biology, Jefferson Medical College, 233 South 10th Street, Suite 450 BLSB, Philadelphia, Pennsylvania 19107, USA. E-mail: Jouni.Uitto@jefferson.edu

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 -carboxylation of gla-proteins. This report expands the clinical spectrum of PXE-like conditions and also provides potential insights into the ectopic mineralization process.