BACKGROUND AND PURPOSE: Periosteal new bone formation and cortical hyperostosis often suggest an initial diagnosis of bone malignancy or osteomyelitis. In the present study, we investigated the cause of persistent bone hyperostosis in the offspring of two consanguineous parents. METHODS: Clinical assessment, imaging, and direct sequencing were used to elucidate the etiology of the condition seen in the patient. RESULTS: Radiological examination revealed periosteal reaction, diaphysitis, and cortical hyperostosis, suggesting osteomyelitis or a bone neoplasm. The clinical and radiological features were also reminiscent of hyperostosis with hyperphosphatemia (HHS), a rare autosomal recessive disease manifesting with recurrent, transient, and painful swelling of the long bones. The identification of two novel heterozygous pathogenic mutations in the GALNT3 gene confirmed a diagnosis of HHS. INTERPRETATION: Molecular analysis represents an invaluable tool in the differential diagnosis of persistent cortical hyperostosis.
Bibliographical noteFunding Information:
We are grateful to the family members for their generous participation in our study. We wish to thank Vered Friedman and Rita Fuhrer-Mor for their help with nucleic acid analysis. This study was supported in part by grants provided by Israel Science Foundation and the Rappaport Institute for Research in the Medical Sciences.