An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.

@article{Boulanger2010AnUS,
  title={An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.},
  author={G Le Boulanger and Christine Labr{\`e}ze and Anne Crou{\'e} and Leon J Schurgers and Nicolas Chassaing and Tanja Wittkampf and Frank Rutsch and Ludovic Martin},
  journal={American journal of medical genetics. Part A},
  year={2010},
  volume={152A 1},
  pages={118-23}
}
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease affecting tissues rich in elastic fibers such as the skin, retina, and cardiovascular system. Mutations in the ABCC6 gene are known to be causative in most patients. Generalized arterial calcification of infancy (GACI) is characterized by extensive hydroxyapatite deposits in the internal elastic laminae in large and medium-sized arteries, leading to arterial stenoses and early and severe myocardial ischemia. GACI has been found to… CONTINUE READING
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