Paediatric pseudoxanthoma elasticum with cardiovascular involvement

Authors

  • Q. Li,

    1. Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, U.S.A
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  • J. Baker,

    1. Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, U.S.A
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  • J. Kowalczyk,

    1. Department of Dermatology and Cutaneous Surgery, University of Miami School of Medicine, Miami, FL, U.S.A
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  • Q. Jiang,

    1. Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, U.S.A
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  • J. Uitto,

    Corresponding author
    1. Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, U.S.A
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  • L. Schachner

    1. Department of Dermatology and Cutaneous Surgery, University of Miami School of Medicine, Miami, FL, U.S.A
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  • Funding sources This study was supported by NIH/NIAMS Grant R01 AR28450 (J.U.) and K08 AR057099 (Q.J.). Dr Li Q.L. is the recipient of a Research Career Development Award from the Dermatology Foundation.
  • Conflicts of interest None declared.
  • Q.L. and J.B. contributed equally to this study.

Summary

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.

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