Melorheostosis: Two Case Reports and Review of Current Literature

骨硬化症:两例病例报告及当前文献综述

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Abstract

INTRODUCTION: Melorheostosis was first described in 1922 with a pattern of linear hyperostosis described as a "dripping candle-wax" appearance. It is a rare benign disease with an estimated incidence of 1: 1,000,000. The classic appearance exists only in less than half of the patients, making the atypical presentations confounding and can lead to delayed presentations and misdiagnosis. We here describe two distinct cases of melorheostosis, which represent the classic and atypical melorheostosis presentation. CASE REPORT: The first case presents as pain and limitation of hand motion, while the other case presents as an insidious pain of the foot. Both are managed surgically and with excellent outcomes. CONCLUSIONS: Although melorheostosis is benign, other atypical types exist, with significant overlap with other conditions, especially malignancy. In some cases, the disease can result in debilitating chronic pain, deformity, and joint contractures leading to severe disability. Holistic and individualized management, including adequate pain control, physiotherapy, and surgical interventions, are required to address specific complaints and improve functional capacity.

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