Neurological Surgery 脳神経外科45巻6号

2017年06月発行

症例

もやもや病を合併したSAPHO（Synovitis-Acne-Pustulosis-Hyperostosis-Osteomyelitis）症候群の1例

著者： 堀江信貴¹ 馬場麻悠子² 河田賢² 松永裕希¹ 定方英作¹ 諸藤陽一¹ 出雲剛¹ 森川実³ 案田岳夫¹ 松尾孝之¹

所属機関： ¹長崎大学病院脳神経外科 ²長崎大学医学部6年 ³長崎大学病院放射線科

ページ範囲：P.533 - P.539

Ⅰ．はじめに
　SAPHO（Synovitis-Acne-Pustulosis-Hyperostosis-Osteomyelitis）症候群は1987年にフランスのChamotらにより提唱された無菌性の骨関節症状に掌蹠膿胞症などの皮膚症状を伴う原因不明の疾患群であり，Synovitis（滑膜炎），Acne（挫瘡），Pustulosis（膿疱症），Hyperostosis（骨化過剰症），Osteitis（骨炎）を呈する⁵⁾．本症候群はクローン病，潰瘍性大腸炎，ベーチェット病といった炎症性腸疾患，自己免疫疾患との合併報告が多く，自己抗体の関連についても研究が進められている⁹⁾．今回われわれは，SAPHO症候群に合併したもやもや病の1例を経験したので，発症メカニズムについて文献的考察を加えて報告する．

参考文献

1) Abul-Kasim K, Nilsson T, Turesson C：Intracranial manifestations in SAPHO syndrome：the first case report in literature. Rheumatol Int 32：1797-1799, 2012

2) 赤松洋祐，藤村　幹，坂田洋之，遠藤英徳，板橋　亮，冨永悌二：1型糖尿病に合併した成人・類もやもや病の1手術例．No Shinkei Geka 43：227-233, 2015

3) Bower RS, Mallory GW, Nwojo M, Kudva YC, Flemming KD, Meyer FB：Moyamoya disease in a primarily white, midwestern US population：increased prevalence of autoimmune disease. Stroke 44：1997-1999, 2013

4) Cecchi AC, Guo D, Ren Z, Flynn K, Santos-Cortez RL, Leal SM, Wang GT, Regalado ES, Steinberg GK, Shendure J, Bamshad MJ；University of Washington Center for Mendelian Genomics, Grotta JC, Nickerson DA, Pannu H, Milewicz DM：RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke 45：3200-3207, 2014

5) Chamot AM, Benhamou CL, Kahn MF, Beraneck L, Kaplan G, Prost A：［Acne-pustulosis-hyperostosis-osteitis syndrome. Results of a national survey. 85 cases]. Rev Rhum Mal Osteoartic 54：187-196, 1987（Article in French）

6) Chen JB, Liu Y, Zhou LX, Sun H, He M, You C：Increased prevalence of autoimmune disease in patients with unilateral compared with bilateral moyamoya disease. J Neurosurg 124：1215-1220, 2016

7) DiMeco F, Clatterbuck RE, Li KW, McCarthy EF, Olivi A：Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome presenting as a primary calvarial lesion. Case report and review of the literature. J Neurosurg 93：693-697, 2000

8) Firinu D, Barca MP, Lorrai MM, Perra S, Cabras S, Muggianu E, Di Martino ML, Manconi PE, Del Giacco SR：TH17 cells are increased in the peripheral blood of patients with SAPHO syndrome. Autoimmunity 47：389-394, 2014

9) Grosjean C, Hurtado-Nedelec M, Nicaise-Roland P, Ferreyra-Dillon R, Bollet C, Quintin E, Dieude P, Palazzo E, Wattiaux MJ, Kahn MF, Meyer O, Chollet-Martin S, Hayem G：Prevalence of autoantibodies in SAPHO syndrome：a single-center study of 90 patients. J Rheumatol 37：639-643, 2010

10) Hayashi K, Horie N, Izumo T, Nagata I：Nationwide survey on quasi-moyamoya disease in Japan. Acta Neurochir（Wien）156：935-940, 2014

11) Hayem G, Bouchaud-Chabot A, Benali K, Roux S, Palazzo E, Silbermann-Hoffman O, Kahn MF, Meyer O：SAPHO syndrome：a long-term follow-up study of 120 cases. Semin Arthritis Rheum 29：159-171, 1999

12) Hiwatani Y, Miwa H, Kondo T：Aseptic meningitis as a rare manifestation of sapho syndrome. Neurology 71：1645-1647, 2008

13) Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S：A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet 56：34-40, 2011

14) Kobayashi H, Matsuda Y, Hitomi T, Okuda H, Shioi H, Matsuda T, Imai H, Sone M, Taura D, Harada KH, Habu T, Takagi Y, Miyamoto S, Koizumi A：Biochemical and functional characterization of RNF213（mysterin）R4810K, a susceptibility mutation of moyamoya disease, in angiogenesis in vitro and in vivo. J Am Heart Assoc 4, 2015

15) Koizumi A, Kobayashi H, Hitomi T, Harada KH, Habu T, Youssefian S：A new horizon of moyamoya disease and associated health risks explored through RNF213. Environ Health Prev Med 21：55-70, 2016

16) Kushima K, Satoh Y, Ban Y, Taniyama M, Ito K, Sugita K：Graves' thyrotoxicosis and Moyamoya disease. Can J Neurol Sci 18：140-142, 1991

17) Li H, Zhang ZS, Liu W, Yang WZ, Dong ZN, Ma MJ, Han C, Yang H, Cao WC, Duan L：Association of a functional polymorphism in the MMP-3 gene with Moyamoya disease in the Chinese Han population. Cerebrovasc Dis 30：618-625, 2010

18) Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, Hashikata H, Matsuura N, Yamazaki S, Toyoda A, Kikuta K, Takagi Y, Harada KH, Fujiyama A, Herzig R, Krischek B, Zou L, Kim JE, Kitakaze M, Miyamoto S, Nagata K, Hashimoto N, Koizumi A：Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One 6：e22542, 2011

19) Marsot-Dupuch K, Doyen JE, Grauer WO, de Givry SC：SAPHO syndrome of the temporomandibular joint associated with sudden deafness. AJNR Am J Neuroradiol 20：902-905, 1999

20) 三上　毅，杉野寿哉，菅野　彩，宝金清博，三國信啓：甲状腺機能亢進症に合併した類もやもや病．脳卒中34：82-88, 2012

21) Miskinyte S, Butler MG, Herveé D, Sarret C, Nicolino M, Petralia JD, Bergametti F, Arnould M, Pham VN, Gore AV, Spengos K, Gazal S, Woimant F, Steinberg GK, Weinstein BM, Tournier-Lasserve E：Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya. Am J Hum Genet 88：718-728, 2011

22) Naves JE, Cabré E, Mañosa M, Grados D, Olivé A, Domènech E：A systematic review of SAPHO syndrome and inflammatory bowel disease association. Dig Dis Sci 58：2138-2147, 2013

23) Ohkubo K, Sakai Y, Inoue H, Akamine S, Ishizaki Y, Matsushita Y, Sanefuji M, Torisu H, Ihara K, Sardiello M, Hara T：Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells. Sci Rep 5：13191, 2015

24) Poddubnyy D, Conrad K, Haibel H, Syrbe U, Appel H, Braun J, Rudwaleit M, Sieper J：Elevated serum level of the vascular endothelial growth factor predicts radiographic spinal progression in patients with axial spondyloarthritis. Ann Rheum Dis 73：2137-2143, 2014

25) Przepiera-Beędzak H, Fischer K, Brzosko M：Serum interleukin-18, fetuin-A, soluble intercellular adhesion molecule-1, and endothelin-1 in ankylosing spondylitis, psoriatic arthritis, and SAPHO syndrome. Int J Mol Sci 17, 2016

26) Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis；Health Labour Sciences Research Grant for Research on Measures for Infractable Diseases：Guidelines for diagnosis and treatment of moyamoya disease（spontaneous occlusion of the circle of Willis). Neurol Med Chir（Tokyo）52：245-266, 2012

27) Roder C, Peters V, Kasuya H, Nishizawa T, Takehara Y, Berg D, Schulte C, Khan N, Tatagiba M, Krischek B：Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients. Acta Neurochir（Wien）152：2153-2160, 2010

28) Shiraishi W, Hayashi S, Iwanaga Y, Murai H, Yamamoto A, Kira J：A case of synovitis, acne, pustulosis, hyperostosis, and osteitis（SAPHO）syndrome presenting with hypertrophic pachymeningitis. J Neurol Sci 349：229-231, 2015

29) Taylor W, Gladman D, Helliwell P, Marchesoni A, Mease P, Mielants H；CASPAR Study Group：Classification criteria for psoriatic arthritis：development of new criteria from a large international study. Arthritis Rheum 54：2665-2673, 2006

30) Tendler BE, Shoukri K, Malchoff C, MacGillivray D, Duckrow R, Talmadge T, Ramsby GR：Concurrence of Graves' disease and dysplastic cerebral blood vessels of the moyamoya variety. Thyroid 7：625-629, 1997

31) Tsugawa J, Ouma S, Fukae J, Tsuboi Y：Recurrent unilateral headache associated with SAPHO syndrome. Intern Med 53：1559-1562, 2014

32) 植松未帆，飛澤晋介，長尾雅裕，松原四郎，水谷俊雄，澁谷　誠：硬膜・頭頂骨・側頭筋病変をきたし高度の頭痛で発症したSAPHO症候群の1例．臨床神経52：106-110, 2012

33) Young AM, Karri SK, Ogilvy CS, Zhao N：Is there a role for treating inflammation in moyamoya disease?：a review of histopathology, genetics, and signaling cascades. Front Neurol 4：105, 2013