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

Lawrence E. Mallette, Jeffrey I. Mechanick

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)1157-1162
Number of pages6
JournalAmerican Journal of Medicine
Volume83
Issue number6
DOIs
StatePublished - Dec 1987
Externally publishedYes

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