右锁骨蜡泪样骨病一例

郑翰林 王保仓 李勇 闫明 王辉

. 病例报告 Case report .

右锁骨蜡泪样骨病一例

郑翰林 王保仓 李勇 闫明 王辉

锁骨；肢骨纹状肥大；骨硬化症；X 线；病理学

蜡泪样骨病 ( Melorheostosis ) 是临床上一种罕见的原因不明的骨骼发育障碍性疾病。常常侵犯一侧肢体，且下肢多见， 增生的骨质从上而下沿骨干一侧向下流注，酷似蜡烛表面的烛泪，故名蜡泪样骨病，又称单肢型骨硬化、流动性骨质硬化症、蜡油样骨病、肢骨纹状肥大症等[1-2]。本病可根据 X 线特有的改变及病理学检查确诊，国内外均罕见，唐山市第二医院骨病科于 2016 年收治 1 例，现报道如下。

临床资料

患者，男，55 岁，主诉偶然发现右肩部肿物 1 天。患者于 1 日前偶然发现右肩部 1 枚肿物，无疼痛不适感，于当地医院就诊，经查体、拍片等检查后，考虑“右锁骨肿物”，建议到上级医院就诊，患者及其家属为求进一步诊治就诊于我院，经门诊查体、阅片后以“蜡泪样骨病”收入我科。否认家族史。

专科检查：右肩部可见皮肤隆起，皮肤无明显色素沉着，无皮肤破溃及红肿，未见静脉怒张，局部皮温不高，右肩可触及肿物，质地较硬，不可移动，局部无压痛及叩击痛，未触及骨擦感及异常活动，右肩关节活动度：前屈 70°，后伸 40°，外展 80°，内收 20°，上举 170°，外旋45°，内旋 45°。可触及桡动脉、尺动脉搏动，手指活动、末梢血运及感觉正常。

X 线片示：右锁骨下可见团块状高密度影，边界不清，呈分叶状改变，余右肩关节诸骨未征象，关节间隙尚可，未见明显增宽或变窄，周围软组织未见明显肿胀( 图1 )。X 线片诊断：蜡泪样骨病。

图1 术前 X 线片可见右锁骨下团块状高密度影，边界不清，呈分叶状改变，余右肩关节诸骨未征象，关节间隙尚可，未见明显增宽或变窄，周围软组织未见明显肿胀图2 术后 X 线片可见病变已基本切除图3 术中见肿物白色，边界清楚，位于锁骨前下侧，呈烛泪状生长，有蒂与锁骨相连，不可移动，未见软骨帽，骨质坚硬，呈象牙状图4 肉眼可见质地坚硬 如象牙，表面不规则，形似烛泪图5 镜下所见 ( HE 染色 10 × 10 )：骨组织紊乱性增生，哈氏管扭曲、变形，骨板层排列 密集紊乱Fig.1 The preoperative X-ray showed high density shadow of the right clavicle, the border of which was unclear and lobulated change, without obvious changes of the joint space or surrounding soft tissuesFig.2 The postoperative X-ray showed that the lesion had been removedFig.3 White masses with clear boundary, were located in the anterior lateral clavicle, like a melted candle, pedunculated and attached to the collarbone, can not be moved, no cartilage cap, as hard as ivoryFig.4 The texture was hard like ivory and the surface was irregular, which looked like a melted candleFig.5 The staining was performed mainly in resected hyperplasia bone tissues, in which twisted and deformed Haversian canals were involved, as well as dense disorder of bone plate layer

术后拍片可见肿物已基本切除 ( 图2 )。本例患者就诊时无明显症状及体征，仅为偶然发现右肩部肿物，术后患者右肩部皮肤表面平整，包块消失，预后良好。

术中所见 ( 图3 )：皮下骨性突起，锐性分离，见肿物白色，边界清楚，位于锁骨前下侧，呈烛泪状生长，有蒂与锁骨相连，不可移动，未见软骨帽，骨质坚硬，呈象牙状，用摆锯沿肿物蒂切除肿物。肉眼所见 ( 图4 )：骨组织一块，体积 6 cm×4 cm ×3 cm，质地坚硬如石头，表面不规则。光镜所见 ( 图5 )：骨 组织紊乱性增生，哈氏管扭曲、变形，骨板层排列密集紊乱。病理诊断：右锁骨蜡泪样骨病。

讨 论

蜡泪样骨病最早是 1922 年由 Leri 等[3]首次报道的，故又叫 Leri 氏病，常累及单侧肢体，且下肢较上肢多发，皮肤和皮下组织受累可致使纤维化和关节挛缩，从而导致畸形和肢体不等长[4-7]。该病十分罕见，发病率约 1 / 100 万[8]。

蜡泪样骨病病因至今不明，未表现出有遗传特性的证据。传统理论认为是由于胚胎早期感觉神经的感染导致各个生骨节的改变而致病[9]，其发病从儿童开始，青中年期患者多见，男女比例大致相等[10]。

组织病理学上，据 Gagliardi 等[11-13]研究报道，从蜡泪样骨病患者皮质标本的显微镜检查显示，非特异性的骨髓空间增厚的骨小梁和纤维化改变造成了骨膜成骨，增生的骨组织是由于原哈弗斯系统在骨膜表面上不断硬化，不规则的沉积和增厚而形成的[14]。

需与之鉴别的疾病有骨斑点症、石骨症、硬化性骨髓炎等。骨斑点症：为海绵骨的多发斑点状骨质硬化，而并无骨质的烛泪状新骨形成；石骨症：全身骨质普遍硬化，皮质增厚，髓腔变窄，骨轮廓无波浪状变形，骨脆易折；硬化性骨髓炎：多发生于一骨，皮质增厚局部呈梭形隆起，髓腔增生硬化，局部可见骨质破坏及骨膜新生。

目前对于蜡泪样骨病尚无特殊的治疗方法，故只采用对症保守治疗或手术刮除，有疼痛症状者可给予物理治疗及对症处理以减轻痛苦，预后良好，暂无恶变及致命报道。

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[2] 陈振强, 刘国瑞, 郭岳霖, 等. 蜡泪样骨病的影响诊断[J]. 放射学实践, 2004, 19(7):515-517.

[3] Léri A, Joanny M. Une affection non décrite des os: Hyperostose “en coulée” sur toute la longueur d’un membre ou“mélorhéostose”[J]. Bull Mem Soc Med Hop (Paris), 1922, 46: 1141-1145.

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[5] Moreno Alvarez MJ, Lázaro MA, Espada G, et al. Linear scleroderma and melorheostosis: Case presentation and literature review[J]. Clin Rheumatol, 1996, 15(14):389-393.

[6] Siegel A, Williams H. Linear scleroderma and melorheostosis[J]. Br J Radiol, 1992, 65(771):266-268.

[7] Judkiewicz AM, Murphey MD, Resnik CS, et al. Advanced imaging of melorheostosis with emphasis on MRI[J]. Skeletal Radiol, 2001, 30(8):447-453.

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[9] 张志伟, 沈为栋. 蜡油样骨病的诊疗现状[J]. 中华临床医师杂志, 2015, 9(3):483-487.

[10] 陈慧恩, 叶澄. 蜡流样肢骨硬化合并局部骨斑点症 ( 附 1 例报告及文献复习 )[J]. 罕见疾病杂志, 2004, 11(1):21-23.

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[13] Greenspan A, Azouz EM. Bone dysplasia series. Melorheostosis: Review and update[J]. Can Assoc Radiol J, 1999, 50(5): 324-330.

[14] Freyschmidt J. Melorheostosis: A review of 23 cases[J]. Eur Radiol, 2001, 11(3):474-479.

( 本文编辑：裴艳宏 )

Melorheostosis of the right clavicle: 1 case report

ZHENG Han-lin, WANG Bao-cang, LI Yong, YAN Ming, WANGHui. Department of Osteopathy, the second Hospital of Tangshan, Tangshan, Hebei, 063000, China

WANG Bao-cang, E-mail: 759537339@qq.com

ObejectiveTo investigate the clinical and X-ray features of melorheostosis, and to provide reference for clinical diagnosis and treatment.MethodsA 55-year-old male paitent underwent operative treatment for melorheostosis of the right clavicle in 2016. The patient occasionally complained because he found a right shoulder mass. The physical examination results showed the swelling skin surface and the doctor could touch the non removable hard mass. The activities of the right shoulder joint was normal. The definite diagnosis was determined before the operation through the clinical and imaging examinations and pathological examination.ResultsThe skin surface of the patient’s right shoulder was f at and the lump had f attened out after operation. The postoperative X-ray showed the lesion has been removed. The texture was hard like ivory and the surface was irregular, which looked like a melted candle. The staining was performed mainly in resected hyperplasia bone tissues, in which twisted and deformed Haversian canals were involved, as well as dense disorder of bone plate layer.ConclusionsMelorheostosis is a kind of skeletal developmental disorder, which is rare and agnogenic in clinic, with deformity of the extremity, pain, limb stiffness and limitation of motion. The disease can be conf rmed by its peculiar X-ray changes and pathological examination. The characteristic X-ray appearance consists of irregular hyperostotic changes of the cortex resembling melted wax dripping down the side of a candle. At present, there is no special treatment for this disease, so usually symptomatic conservative treatment or surgical curettage. Physical therapy and symptomatic treatment can be given to those patients who have pain symptoms, and the satisfactory therapeutic effects can be achieved.

Clavicle; Melorheostosis; Osteopetrosis; X-rays; Pathology

10.3969/j.issn.2095-252X.2017.02.016

R681

063000 河北，华北理工大学研究生学院 ( 郑翰林 )；063000 河北，唐山市第二医院骨病科 ( 王保仓、李勇、闫明、王辉 )

王保仓，Email: 759537339@qq.com

2016-08-28 )