Case-report-of-a-rare-disease—melorheostosis

ABSTRACT

Introduction: Melorheostosis is a rare, non-genetic, non-developmental, sclerosing developmental dysplasia of bone and adjacent soft tissue. The characteristic radiographic appearance is that of candle wax dripping. Diagnosis is usually based on classical radiographic appearance rather than clinical picture. A 26 year old female with dullCase report aching pain over upper third left leg and knee with limitation in movements and associated swelling. On examination tenderness and limitation of movements were present. Plain radiograph showed extensive, dense, undulating or irregular cortical hyperostosis, resembling candle wax dripping along length of left tibia suggestive of Melorheostosis and MRI showed features of Osteopathica striata of left femur and Osteopoikilosis of left hip joint. Inj. Zolindronic acid given. Physiotherapy was started to avoid contractures. Lab investigations in Melorheostosis is usuallyConclusion: normal. Exact pathophysiology of the disease remains uncertain. No curative treatment options are available. Bisphosphonates, Denosumab and physiotherapy are the available options for treatment.