Melorheostosis as a rare, non-hereditary bone structure defect - Case report

Written by László Ilona, Sólyom Réka, Egyed-Zsigmond Imre, Caraian Valentin, Szász Dezső

In our paper we present the case of a 12 year old boy, who suffers in melorheostosis, a rare disease, which belongs to the sclerosing bone disorders. The patient presented in our department suffers of scoliotic deformity of the thoracolumbar spine and lower leg length discrepancy. Besides of the leg length discrepancy and the scoliotic deformity of the spine caused by the slanting posture of the pelvis, clinically we found a soft tissue masse in the left glutheal region and in the proximal third of the left lower limb, left hip joint contracture in flexion and valgus deformity of the left knee. The plain radiography of the left lower leg revealed polyostotic extensive dense hyperostosis with thickening of the bone cortex, resembling flowing candle wax. The CT of the left femur showed the narrowing of the medullary canal caused by the cortical expansion. Scintigraphy reveals abnormally increased tracer uptake in the bone and soft tissue lesions. The histology showed periosteal fibrosis, the fibrotic alteration and hyalinization of the affected muscles in the tumour-like lesion. We established our diagnosis based on the characteristic radiological image. The particularities of this case are the multiple (polyostotic) bones, the progressive deformity and the presence of the progressive fibrosis and hyalinization of the adjacent muscle and soft tissue swelling.


Keywords: melorheostosis, bone structure defect.

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