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Pseudoxanthoma Elasticum (PXE)

Abstract

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NORD is very grateful to Mark Lebwohl, MD, Professor and Chairman, Department of Dermatology, The Mount Sinai School of Medicine, for assistance in the preparation of this report.

Synonyms of Pseudoxanthoma Elasticum (PXE)

  • elastosis dystrophica syndrome (obsolete)
  • Gronblad-Strandberg syndrome
  • systemic elastorrhexis (obsolete)

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Pseudoxanthoma elasticum, PXE, is an inherited disorder caused y mutations in the ABCC6 transporter gene that affects connective tissue in some parts of the body. Elastic tissue in the body becomes mineralized; that is, calcium and other minerals are deposited in the tissue. This can result in changes in the skin, eyes, cardiovascular system, and gastrointestinal system. Clinicians first recognized PXE more than 100 years ago. Researchers have made a number of significant advances in the past few years.

Organizations related to Pseudoxanthoma Elasticum (PXE)

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