Background Pseudoxanthoma elasticum (PXE) is characterized by aberrant mineralization of connective tissues, causing considerable morbidity and mortality. The disease is typically of late onset, the skin manifestations first being noted in the teens or later. Another aberrant mineralization disorder, generalized arterial calcification of infancy (GACI), is present at birth and can demonstrate a phenotypic overlap with PXE. Objectives A patient with PXE was noted to have skin findings as early as at 6 years of age, with cardiovascular involvement. The purpose of this study was to examine the genetic basis of this phenotypic presentation in the spectrum of PXE/GACI. Methods The patient's genotype was studied by sequencing ABCC6 and ENPP1, genes known to be associated with PXE and/or GACI. Results Screening of the ABCC6 gene revealed two pathogenetic mutations, p.R1141X and g.del23-29. Analysis of the ENPP1 gene failed to demonstrate the presence of mutations. Conclusions This study demonstrates the presence of cutaneous findings of PXE in an 8-year-old paediatric patient, with cardiovascular involvement, illustrating the phenotypic spectrum of PXE. What's already known about this topic? Pseudoxanthoma elasticum (PXE), an aberrant mineralization disease, characteristically has a late-onset of manifestations primarily with skin findings. Generalized arterial calcification of infancy (GACI) is characterized by extensive arterial calcification noted by prenatal ultrasound or at birth. While PXE and GACI in their classic forms are associated with mutations in the ABCC6 and ENPP1 genes, recently both genotypic and phenotypic overlap has been noted. What does this study add? A patient was noted to have skin findings characteristic of PXE as early as at 6 years of age, associated with cardiovascular mineralization. Sequence analysis revealed compound heterozygosity for two mutations, g.del23-29 and p.R1141X, in the ABCC6 gene. This case illustrates the phenotypic spectrum of PXE, with early manifestations in the paediatric population with cardiovascular mineralization, with overlapping clinical features with GACI.
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