Background: Melorheostosis also known as Leris disease or flowing periostal hyperostosis is a rare nonfamilial sclerosing bony dysplasia of poorly understood etiology. It is characterised by soft Tissue contractures with overlying slowly evolving linear hyperostosis. Radiographic findings are helpful in the diagnosis, these consist of irregular hyperostosis extending along the length of one side of the long bone, resembling flowing candle wax. Treatment is mainly symptomatic including bisphosphonates. We reported a case melorheostosis involving the foots, hands and the tibia which was improved by pamidronate treatment.
Presenting problem: A 15 years-old female had chronic pain around her foots and hands, and had been unable to wear shoes because of toe deformity for last 6 months. She stated that her foot hurt in shoe gear. She often tripped when she was running and playing. The physical exam revealed a severely C shaped right foot that was nonreducible, and an irregular bony surface was palpated, and erythematous change and callosity formation were seen around the contact area between the skin and the shoes. Biochemical findings were within the normal range (Ca, P, ALP, PTH, 1-25(OH)2 Vit-D, calcitonin), but FGF-23 level was high compared with normal ranges for age. Genetic analysis did not show LEMD3 gene defect. Radiological examination showed that distal part of the radius and metacarpal and carpal phalanges 23 and metatarsal phalanges were thickened and sclerosed. The interphalangeal soft tissues show diffuse swelling.
Clinical management: She was treated with sodium pamidronate (1 mg/kg per day, 3 days each mounts) for 9 mounts. End of this period swelling in the hands and foots decreased and the pain abated.
Discussion: Treatment is mainly symptomatic including bisphosphonates in patients with melorheostosis. Non steroid antiinflamatuvar drugs, nifedipine and even sympathetic blockers have been prescribed in a attempt to alleviate pain with variable results. Bisphosphantes when used at high concentration have antiinflammatory effects by inhibiting production of proinflammatory cytokines, and may help to decrease pain.
Disclosure: The authors declared no competing interests.
27 - 30 Jun 2015