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骨斑点症——罕见病病例报告

Melorheostosis - Case Report of Rare Disease.

作者信息

Kumar Rakesh, Sankhala S S, Bijarnia Isha

机构信息

Orthopedics Department, SMS Medical College & Hospital, Jaipur, Rajasthan. India.

Anesthetic Department, SMS Medical College & Hospital, Jaipur, Rajasthan. India.

出版信息

J Orthop Case Rep. 2014 Apr-Jun;4(2):25-7. doi: 10.13107/jocr.2250-0685.162.

Abstract

INTRODUCTION

Melorheostosis(synonyms: candle bone disease, melting wax syndrome, Leri disease) is a rare chronic bone disorder, first described in 1922 by Leri and Joanny. Men and women are equally affected, and no hereditary features have been discovered. Onset is insidious, and most common symptom is pain. Most common part of bone is diaphysis of the long bone of lower limb rarely the axial skeleton. Classical radiological appearance of 'flowing hyperosteosis' resembling hardened wax that has dripped down the side of a candle.

CASE REPORT

A 35 years old woman presented with left leg pain with mild swelling and limitation of knee movement. On examination non tender bony heard swelling, hyperpigmented and restriction of knee movement present. Plain radiographs showed extensive, dense, undulating or irregular cortical hyperostosis, resembling candle wax, extending along the length of bone. Pamidronate as well asanalgesic were given to the patient. Physiotherepy started for the deformity.

CONCLUSION

Routine laboratory findings usually are normal. The exact cause remain unclear. There is no definite treatment available for this disease. Only symptomatic treatment improve the condition of the patients, more fruitful result obtain with pamidronate and physiotherapy.

摘要

引言

肢骨纹状肥大(同义词:烛泪样骨病、蜡油样骨病、勒里病)是一种罕见的慢性骨病,1922年由勒里和乔阿尼首次描述。男性和女性受影响程度相同,未发现遗传特征。起病隐匿,最常见的症状是疼痛。最常累及的骨部位是下肢长骨的骨干,很少累及中轴骨骼。典型的放射学表现为“流注状骨肥厚”,类似顺着蜡烛一侧滴下的硬化蜡油。

病例报告

一名35岁女性因左腿疼痛、轻度肿胀及膝关节活动受限就诊。检查发现有非压痛性骨样肿胀、色素沉着及膝关节活动受限。X线平片显示广泛、致密、起伏或不规则的皮质骨肥厚,类似蜡烛蜡油,沿骨的长度延伸。给予患者帕米膦酸盐及镇痛药治疗。针对畸形开始进行物理治疗。

结论

常规实验室检查结果通常正常。确切病因仍不清楚。这种疾病没有确切的治疗方法。只有对症治疗能改善患者状况,帕米膦酸盐和物理治疗取得的效果更佳。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/837c/4719368/71f63c939abb/JOCR-4-25-g001.jpg

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