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 PXE-like 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.
Uitto
Jouni
J
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA. Jouni.Uitto@jefferson.edu
Jiang
Qiujie
Q
D003937:Diagnosis, Differential; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D008954:Models, Biological; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis* / Q000235:genetics*; D012867:Skin / Q000473:pathology*
D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human