PEDIATRICS Vol. 99 No. 5 May 1997, pp. 745 (doi:10.1542/peds.99.5.745)
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PEDIATRICS Vol. 99 No. 5 May 1997, pp. 745-748

EXPERIENCE AND REASON:
Hyperostosis With Hyperphosphatemia: Evidence of Familial Occurrence and Association With Tumoral Calcinosis

The first 20% of the full text of this article appears below.

    INTRODUCTION

Hyperostosis with hyperphosphatemia was first described in 19701 and subsequently in eight additional patients.2-5 It presents as recurrent painful swelling of the long bones associated with hyperphosphatemia, normal renal function and serum parathormone level, and radiologic evidence of cortical hyperostosis and periosteal reaction in affected bones. Still not described in standard pediatric textbooks, hyperostosis with hyperphosphatemia is often unrecognized, leading to delay in diagnosis and subjecting patients to unnecessary and potentially harmful diagnostic, therapeutic, and surgical procedures. This report describes two sisters and an unrelated girl with hyperostosis and hyperphosphatemia and reviews previous cases in the literature. For the first time, we document the condition's familial and possible Middle Eastern prevalence and confirm its association with tumoral calcinosis,6 which might represent a continuous spectrum of the same pathogenic mechanism.

    CASE REPORTS

The clinical and laboratory data are summarized in Table 1.

Table Removed (Available Only in the Full Text)

Case 1

An 8-year-old Saudi Arab girl presented with a 2-week history of right leg pain and fever. She had been treated at another facility with antibiotics for suspected osteomyelitis. She was the fifth of 13 children born to a consanguineous marriage. Her 5-year-old sister subsequently had a diagnosis of hyperostosis with hyperphosphatemia (case 2).

. . . [Full Text of this Article]




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