Melorheostosis, an extremely rare disease

Abstract

Introduction:

Melorheostosis is a rare disorder characterized by mesodermal dysplasia of bone. Melorheostosis usually affects the long bones of the upper and lower limbs but may also involve the short bones of the hand, foot and axial skeleton. The incidence is 0.9 cases per million inhabitants, affects men and women in equal proportions, and cases have been described in children and adults.

Methods:

We present a 35 year-old female, with an egg-sized lump and sharp pain over her right calf with no limitation of knee or ankle motion. Radiography of the affected segments showed dripping candle wax sign which is similar to chronic Osteomyelitis.MRI revealed intramuscular vascular lesion with no evidence of erosion or bone destruction. Histological findings after open biopsy are nonspecific and showed chronic inflammation process with no malignant cells in bone specimen and hemangioma in muscular speciment.

Results:

Diagnosis of melorheostosis were concluded by combining the clinical examination, radiological results and histopatological findings in clinicopathological conference. The patient has been treated with a non-steroidal antiinflammatory drug (sodium diclofenac 2x50 mg) with good     symptomatic response.

Conclusion:

Diagnosis of melorheostosis is achieved by a combination of clinical assessments, imaging tests and histological findings to differ it from infection and other bone tumors. There areno specific treatments, and symptomatic by using nonsteroidal anti inflammatory drugs produce good symptomatic result. More research onetiology of melorheostosis isneeded.