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

• Published in: The American journal of medicine Vol. 83; no. 6; pp. 1157 - 1162
• Main Authors: Mallette, Lawrence E., Mechanick, Jeffrey I.
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.12.1987; Elsevier
• Subjects: Biological and medical sciences; Calcitriol - metabolism; Calcium - metabolism; Humans; Hypercalcemia - metabolism; Kidney Calculi - genetics; Male; Medical sciences; Middle Aged; Parathyroid Hormone - metabolism; Phosphorus - metabolism; Prednisone - therapeutic use; Pseudoxanthoma Elasticum - genetics; Pseudoxanthoma Elasticum - metabolism; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Thyroid Function Tests; Vitamin D - metabolism; Skin disease; Elastic tissue disease; Vitamin D; Phosphorus; Pseudoxanthoma elasticum; Metabolism; Congenital disease
• ISSN: 0002-9343; 1555-7162
• 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.