鄭翰林 王保倉 李勇 閆明 王輝

. 病例報告 Case report .

右鎖骨蠟淚樣骨病一例

鄭翰林 王保倉 李勇 閆明 王輝

鎖骨；肢骨紋狀肥大；骨硬化癥；X 線；病理學

蠟淚樣骨病 ( Melorheostosis ) 是臨床上一種罕見的原因不明的骨骼發(fā)育障礙性疾病。常常侵犯一側肢體，且下肢多見， 增生的骨質從上而下沿骨干一側向下流注，酷似蠟燭表面的燭淚，故名蠟淚樣骨病，又稱單肢型骨硬化、流動性骨質硬化癥、蠟油樣骨病、肢骨紋狀肥大癥等[1-2]。本病可根據 X 線特有的改變及病理學檢查確診，國內外均罕見，唐山市第二醫(yī)院骨病科于 2016 年收治 1 例，現報道如下。

臨床資料

患者，男，55 歲，主訴偶然發(fā)現右肩部腫物 1 天?；颊哂?1 日前偶然發(fā)現右肩部 1 枚腫物，無疼痛不適感，于當地醫(yī)院就診，經查體、拍片等檢查后，考慮“右鎖骨腫物”，建議到上級醫(yī)院就診，患者及其家屬為求進一步診治就診于我院，經門診查體、閱片后以“蠟淚樣骨病”收入我科。否認家族史。

專科檢查：右肩部可見皮膚隆起，皮膚無明顯色素沉著，無皮膚破潰及紅腫，未見靜脈怒張，局部皮溫不高，右肩可觸及腫物，質地較硬，不可移動，局部無壓痛及叩擊痛，未觸及骨擦感及異?；顒?，右肩關節(jié)活動度：前屈 70°，后伸 40°，外展 80°，內收 20°，上舉 170°，外旋45°，內旋 45°。可觸及橈動脈、尺動脈搏動，手指活動、末梢血運及感覺正常。

X 線片示：右鎖骨下可見團塊狀高密度影，邊界不清，呈分葉狀改變，余右肩關節(jié)諸骨未征象，關節(jié)間隙尚可，未見明顯增寬或變窄，周圍軟組織未見明顯腫脹( 圖1 )。X 線片診斷：蠟淚樣骨病。

圖1 術前 X 線片可見右鎖骨下團塊狀高密度影，邊界不清，呈分葉狀改變，余右肩關節(jié)諸骨未征象，關節(jié)間隙尚可，未見明顯增寬或變窄，周圍軟組織未見明顯腫脹圖2 術后 X 線片可見病變已基本切除圖3 術中見腫物白色，邊界清楚，位于鎖骨前下側，呈燭淚狀生長，有蒂與鎖骨相連，不可移動，未見軟骨帽，骨質堅硬，呈象牙狀圖4 肉眼可見質地堅硬 如象牙，表面不規(guī)則，形似燭淚圖5 鏡下所見 ( HE 染色 10 × 10 )：骨組織紊亂性增生，哈氏管扭曲、變形，骨板層排列 密集紊亂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

術后拍片可見腫物已基本切除 ( 圖2 )。本例患者就診時無明顯癥狀及體征，僅為偶然發(fā)現右肩部腫物，術后患者右肩部皮膚表面平整，包塊消失，預后良好。

術中所見 ( 圖3 )：皮下骨性突起，銳性分離，見腫物白色，邊界清楚，位于鎖骨前下側，呈燭淚狀生長，有蒂與鎖骨相連，不可移動，未見軟骨帽，骨質堅硬，呈象牙狀，用擺鋸沿腫物蒂切除腫物。肉眼所見 ( 圖4 )：骨組織一塊，體積 6 cm×4 cm ×3 cm，質地堅硬如石頭，表面不規(guī)則。光鏡所見 ( 圖5 )：骨 組織紊亂性增生，哈氏管扭曲、變形，骨板層排列密集紊亂。病理診斷：右鎖骨蠟淚樣骨病。

討 論

蠟淚樣骨病最早是 1922 年由 Leri 等[3]首次報道的，故又叫 Leri 氏病，常累及單側肢體，且下肢較上肢多發(fā)，皮膚和皮下組織受累可致使纖維化和關節(jié)攣縮，從而導致畸形和肢體不等長[4-7]。該病十分罕見，發(fā)病率約 1 / 100 萬[8]。

蠟淚樣骨病病因至今不明，未表現出有遺傳特性的證據。傳統(tǒng)理論認為是由于胚胎早期感覺神經的感染導致各個生骨節(jié)的改變而致病[9]，其發(fā)病從兒童開始，青中年期患者多見，男女比例大致相等[10]。

組織病理學上，據 Gagliardi 等[11-13]研究報道，從蠟淚樣骨病患者皮質標本的顯微鏡檢查顯示，非特異性的骨髓空間增厚的骨小梁和纖維化改變造成了骨膜成骨，增生的骨組織是由于原哈弗斯系統(tǒng)在骨膜表面上不斷硬化，不規(guī)則的沉積和增厚而形成的[14]。

需與之鑒別的疾病有骨斑點癥、石骨癥、硬化性骨髓炎等。骨斑點癥：為海綿骨的多發(fā)斑點狀骨質硬化，而并無骨質的燭淚狀新骨形成；石骨癥：全身骨質普遍硬化，皮質增厚，髓腔變窄，骨輪廓無波浪狀變形，骨脆易折；硬化性骨髓炎：多發(fā)生于一骨，皮質增厚局部呈梭形隆起，髓腔增生硬化，局部可見骨質破壞及骨膜新生。

目前對于蠟淚樣骨病尚無特殊的治療方法，故只采用對癥保守治療或手術刮除，有疼痛癥狀者可給予物理治療及對癥處理以減輕痛苦，預后良好，暫無惡變及致命報道。

[1] 郭彥杰, 張長青. 蠟淚樣骨病的臨床特征及 X 線診斷附 1 例報告[J]. 國際骨科學雜志, 2008, 28(2):136-137.

[2] 陳振強, 劉國瑞, 郭岳霖, 等. 蠟淚樣骨病的影響診斷[J]. 放射學實踐, 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.

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

[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.

[8] Jain VK, Arya RK, Bharadwaj M, et al. Melorheostosis: clinicopathological features, diagnosis, and management[J]. Orthopedics, 2009, 32(7):512-522.

[9] 張志偉, 沈為棟. 蠟油樣骨病的診療現狀[J]. 中華臨床醫(yī)師雜志, 2015, 9(3):483-487.

[10] 陳慧恩, 葉澄. 蠟流樣肢骨硬化合并局部骨斑點癥 ( 附 1 例報告及文獻復習 )[J]. 罕見疾病雜志, 2004, 11(1):21-23.

[11] Gagliardi GG, Mahan KT. Melorheostosis: A literature review and case report with surgical considerations[J]. J Foot Ankle Surg, 2010, 49(1):80-85.

[12] Jain VK, Arya RK, Bharadwaj M, et al. Melorheostosis: Clinicopathological features, diagnosis, and management[J]. Orthopedics, 2009, 32(7):512.

[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.

( 本文編輯：裴艷宏 )

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，華北理工大學研究生學院 ( 鄭翰林 )；063000 河北，唐山市第二醫(yī)院骨病科 ( 王保倉、李勇、閆明、王輝 )

王保倉，Email: 759537339@qq.com

2016-08-28 )