Combined Axial and Peripheral Melorheostosis in a Young Boy: A Unique Case

Axial melorheostosis is a rare clinical condition with only a few cases identified worldwide. The combination of axial and peripheral melorheostosis has not reported before, to the best of our knowledge.

Here, we present a case of a 9-year-old boy, who was referred with pain and swelling over the medial upper right leg with slight limping of insidious onset over a 3-month period. In addition, there was discomfort and irregular patchy skin lesions over the lower back. On examination, a tender swelling with irregular borders was felt over the right upper tibia. A diagnosis of axial and peripheral melorheostosis was confirmed by radiological imaging. A single dose of intravenous zolendronic acid (0.05 mg/kg) was administered. The patient showed significant improvement of symptoms within 2 months of treatment, with complete alleviation of symptoms after 6 months.

Axial and peripheral melorheostosis can present together; however, peripheral lesions may adequately respond to zolendronic acid treatment.