Heritable syndrome of pseudoxanthoma elasticum with abnormal phosphorus and vitamin D metabolism

Am J Med. 1987 Dec;83(6):1157-62. doi: 10.1016/0002-9343(87)90960-0.


A patient with pseudoxanthoma elasticum was documented to be hyperphosphatemic and mildly hypercalcemic for six years. Complications included metastatic calcification, absorptive hypercalciuria, and renal insufficiency. The 1,25-dihydroxyvitamin D value was elevated, despite normal serum parathyroid hormone values, high serum phosphate levels, and renal insufficiency. Either increased dietary calcium or prednisone seemed to suppress the 1,25-dihydroxyvitamin D value. Nephrolithiasis or abnormalities suggestive of pseudoxanthoma elasticum occurred in the patient's father, daughter, and several siblings, suggesting a distinct familial syndrome in which connective tissue changes are accompanied by abnormalities of phosphorus and vitamin D metabolism that may resemble those in the syndrome of familial tumoral calcinosis. Nine similar cases were described before 1970.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Calcitriol / metabolism
  • Calcium / metabolism
  • Humans
  • Hypercalcemia / metabolism*
  • Kidney Calculi / genetics
  • Male
  • Middle Aged
  • Parathyroid Hormone / metabolism
  • Phosphorus / metabolism*
  • Prednisone / therapeutic use
  • Pseudoxanthoma Elasticum / genetics
  • Pseudoxanthoma Elasticum / metabolism*
  • Thyroid Function Tests
  • Vitamin D / metabolism*


  • Parathyroid Hormone
  • Vitamin D
  • Phosphorus
  • Calcitriol
  • Calcium
  • Prednisone