Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment.

@article{Marconi2015PseudoxanthomaEA,
  title={Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment.},
  author={Barbara Marconi and Ivan Bobyr and A Campanati and E Molinelli and Veronica Consales and V Brisigotti and Marina Scarpelli and Stefano Racchini and Annamaria Offidani},
  journal={Intractable & rare diseases research},
  year={2015},
  volume={4 3},
  pages={
          113-22
        }
}
  • Barbara Marconi, Ivan Bobyr, +6 authors Annamaria Offidani
  • Published 2015
  • Medicine
  • Intractable & rare diseases research
  • Pseudoxantoma elasticum (PXE), also known as Groenblad-Strandberg syndrome, is a rare heritable disease with an estimated prevalence of 1:50,000 in the general population. PXE is considered a prototype of multisystem ectopic mineralization disorders and it is characterized by aberrant mineralization of soft connective tissue with degeneration of the elastic fibers, involving primarily the eyes, the cardiovascular system, and the skin. Cutaneous lesions consist of small, asymptomatic, yellowish… CONTINUE READING

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    Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.

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