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揭开多年反复多发骨肿痛与痤疮样皮疹的“神秘面纱”

卢新宇 刘煜琛 李忱 叶雨芊 曹逸涵 刘炜 霍力 吴焕文 王涛 吴南 刘晓清 田欣伦 王木 朱惠娟 张文 张抒扬

卢新宇, 刘煜琛, 李忱, 叶雨芊, 曹逸涵, 刘炜, 霍力, 吴焕文, 王涛, 吴南, 刘晓清, 田欣伦, 王木, 朱惠娟, 张文, 张抒扬. 揭开多年反复多发骨肿痛与痤疮样皮疹的“神秘面纱”[J]. 协和医学杂志, 2021, 12(3): 417-422. doi: 10.12290/xhyxzz.20200046
引用本文: 卢新宇, 刘煜琛, 李忱, 叶雨芊, 曹逸涵, 刘炜, 霍力, 吴焕文, 王涛, 吴南, 刘晓清, 田欣伦, 王木, 朱惠娟, 张文, 张抒扬. 揭开多年反复多发骨肿痛与痤疮样皮疹的“神秘面纱”[J]. 协和医学杂志, 2021, 12(3): 417-422. doi: 10.12290/xhyxzz.20200046
LU Xinyu, LIU Yuchen, LI Chen, YE Yuqian, CAO Yihan, LIU Wei, HUO Li, WU Huanwen, WANG Tao, WU Nan, LIU Xiaoqing, TIAN Xinlun, WANG Mu, ZHU Huijuan, ZHANG Wen, ZHANG Shuyang. Unveiling the Mystery of Long-term Repeated Multifocal-bone Swelling and Pain with Acne-like Rash[J]. Medical Journal of Peking Union Medical College Hospital, 2021, 12(3): 417-422. doi: 10.12290/xhyxzz.20200046
Citation: LU Xinyu, LIU Yuchen, LI Chen, YE Yuqian, CAO Yihan, LIU Wei, HUO Li, WU Huanwen, WANG Tao, WU Nan, LIU Xiaoqing, TIAN Xinlun, WANG Mu, ZHU Huijuan, ZHANG Wen, ZHANG Shuyang. Unveiling the Mystery of Long-term Repeated Multifocal-bone Swelling and Pain with Acne-like Rash[J]. Medical Journal of Peking Union Medical College Hospital, 2021, 12(3): 417-422. doi: 10.12290/xhyxzz.20200046

揭开多年反复多发骨肿痛与痤疮样皮疹的“神秘面纱”

doi: 10.12290/xhyxzz.20200046
基金项目: 

国家重点研发计划罕见病临床队列研究 2016YFC0901500

中国医学科学院医学与健康科技创新工程 2017-I2N-3-001

详细信息
    通讯作者:

    李忱 电话:010-69151700,E-mail:casio1981@163.com

  • 中图分类号: R684.3

Unveiling the Mystery of Long-term Repeated Multifocal-bone Swelling and Pain with Acne-like Rash

Funds: 

National Key Research and Development Program of China 2016YFC0901500

Chinese Academy of Medical Sciences Initiative Fund for Medical Sciences 2017-I2N-3-001

More Information
  • 摘要: SAPHO综合征是一类以骨关节和皮肤病变为特点的罕见临床综合征,即出现滑膜炎(synovitis)、痤疮(acne)、脓疱病(pustulosis)、骨肥厚(hyperostosis)和骨炎(osteitis)等一系列病变。本文报道一例具有31年病史的非典型SAPHO综合征患者,经详细的诊断及鉴别诊断以及合理的诊疗方案的实施,最终患者病情获得明显改善。通过回顾并总结SAPHO综合征的临床诊疗特点,以及对该病例的讨论分析过程,充分体现了多学科诊疗在罕见病诊治中的有效性及必要性。
    作者贡献:卢新宇、刘煜琛负责文章撰写及修订;李忱负责提供病例资料及文章构思及修订;叶雨芊、曹逸涵、刘炜、霍力、吴焕文、王涛、吴南、刘晓清、田欣伦、王木、朱惠娟、张文、张抒扬负责文章修订。
    利益冲突  无
  • 图  1  患者足部照片

    图  2  患者胸部CT冠状位重建示胸椎多发终板侵蚀,椎间隙变窄,椎旁骨化(A); 胸部X线示双侧锁骨近端膨大增粗,骨皮质硬化增厚(B)

    图  3  患者头颅CT示上颌骨大面积骨质吸收(蓝色)及硬化(红色)(箭头)

    图  4  患者右肘关节X线示大量骨质破坏及硬化增生

    图  5  患者全身骨显像示眶骨、下颌骨、左侧锁骨、胸骨(相当于T9)、右肘关节、右尺骨、双侧髌骨、左胫骨下段及双足跗骨、跖骨、趾骨见放射性摄取增高灶

    图  6  患者皮损病理切片(×10,含铁血黄素染色)示含铁血黄素沉积(箭头)

  • [1] Fu Z, Liu M, Li Z, et al. Is the bullhead sign on bone scintigraphy really common in the patient with SAPHO syndro-me? A single-center study of a 16-year experience[J]. Nucl Med Commun, 2016, 37: 387-392. doi:  10.1097/MNM.0000000000000451
    [2] Leet AI, Collins MT. Current approach to fibrous dysplasia of bone and McCune-Albright syndrome[J]. J Child Orthop, 2007, 1: 3-17. doi:  10.1007/s11832-007-0006-8
    [3] Lee SE, Lee EH, Park H, et al. The diagnostic utility of the GNAS mutation in patients with fibrous dysplasia: meta-analysis of 168 sporadic cases[J]. Hum Pathol, 2012, 43: 1234-1242. doi:  10.1016/j.humpath.2011.09.012
    [4] Tabareau-Delalande F, Collin C, Gomez-Brouchet A, et al. Diagnostic value of investigating GNAS mutations in fibro-osseous lesions: a retrospective study of 91 cases of fibrous dysplasia and 40 other fibro-osseous lesions[J]. Mod Pathol, 2013, 26: 911-921. doi:  10.1038/modpathol.2012.223
    [5] Chamot AM, Benhamou CL, Kahn MF, et al. Acne-pustulosis-hyperostosis-osteitis syndrome. Results of a national survey. 85 cases[J]. Rev Rhum Mal Osteoartic, 1987, 54: 187-196.
    [6] Rukavina I. SAPHO syndrome: a review[J]. J Child Orthop, 2015, 9: 19-27. doi:  10.1007/s11832-014-0627-7
    [7] Daoussis D, Konstantopoulou G, Kraniotis P, et al. Biolo-gics in SAPHO syndrome: A systematic review[J]. Semin Arthritis Rheum, 2019, 48: 618-625. doi:  10.1016/j.semarthrit.2018.04.003
    [8] Cianci F, Zoli A, Gremese E, et al. Clinical heterogeneity of SAPHO syndrome: challenging diagnose and treatment[J]. Clin Rheumatol, 2017, 36: 2151-2158. doi:  10.1007/s10067-017-3751-1
    [9] Rohekar G, Inman RD. Conundrums in nosology: synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome and spondylarthritis[J]. Arthritis Rheum, 2006, 55: 665-669. doi:  10.1002/art.22087
    [10] Tiemann AH, Krenn V, Krukemeyer MG, et al. Infectious bone diseases[J]. Pathologe, 2011, 32: 200-209. doi:  10.1007/s00292-011-1417-3
    [11] Zemann W, Pau M, Feichtinger M, et al. SAPHO syndrome with affection of the mandible: diagnosis, treatment, and review of literature[J]. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 2011, 111: 190-195. doi:  10.1016/j.tripleo.2010.04.037
    [12] Kahn MF, Hayem F, Hayem G, et al. Is diffuse sclerosing osteomyelitis of the mandible part of the synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome? Analysis of seven cases[J]. Oral Surg Oral Med Oral Pathol, 1994, 78: 594-598. doi:  10.1016/0030-4220(94)90170-8
    [13] Depasquale R, Kumar N, Lalam RK, et al. SAPHO: What radiologists should know[J]. Clin Radiol, 2012, 67: 195-206. doi:  10.1016/j.crad.2011.08.014
    [14] Muller-Richter UD, Roldan JC, Mortl M, et al. SAPHO syndrome with ankylosis of the temporomandibular joint[J]. Int J Oral Maxillofac Surg, 2009, 38: 1335-1341. doi:  10.1016/j.ijom.2009.03.724
    [15] Firinu D, Garcia-Larsen V, Manconi PE, et al. SAPHO Syndrome: Current Developments and Approaches to Clinical Treatment[J]. Curr Rheumatol Rep, 2016, 18: 35. doi:  10.1007/s11926-016-0583-y
    [16] Li C, Sun X, Cao Y, et al. Case report: remarkable remission of SAPHO syndrome in response to Tripterygium wilfordii hook f treatment[J]. Medicine (Baltimore), 2017, 96: e8903. doi:  10.1097/MD.0000000000008903
    [17] Nguyen MT, Borchers A, Selmi C, et al. The SAPHO syndrome[J]. Semin Arthritis Rheum, 2012, 42: 254-265. doi:  10.1016/j.semarthrit.2012.05.006
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出版历程
  • 收稿日期:  2020-02-24
  • 录用日期:  2020-04-15
  • 网络出版日期:  2021-02-01
  • 刊出日期:  2021-05-30

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