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SAPHO syndrome

MedGen UID:
120490
•Concept ID:
C0263859
•
Disease or Syndrome
Synonyms: Acquired hyperostosis syndrome; Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis
SNOMED CT: SAPHO syndrome (60684003); SAPHO - Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome (60684003); Synovitis acne pustulosis hyperostosis osteomyelitis syndrome (60684003)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0019266
Orphanet: ORPHA793

Definition

A rare, pyogenic autoinflammatory disease, characterized by the association of neutrophilic cutaneous involvement and chronic nonbacterial osteomyelitis. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSAPHO syndrome

Professional guidelines

PubMed

Update upon efficacy and safety of etanercept for the treatment of spondyloarthritis and juvenile idiopathic arthritis.
Murdaca G, Negrini S, Magnani O, Penza E, Pellecchio M, Gulli R, Mandich P, Puppo F
Mod Rheumatol 2018 May;28(3):417-431. Epub 2017 Aug 24 doi: 10.1080/14397595.2017.1366006. PMID: 28837372
SAPHO Syndrome: Current Developments and Approaches to Clinical Treatment.
Firinu D, Garcia-Larsen V, Manconi PE, Del Giacco SR
Curr Rheumatol Rep 2016 Jun;18(6):35. doi: 10.1007/s11926-016-0583-y. PMID: 27108452
Reactive arthritis: developments and challenges in diagnosis and treatment.
Morris D, Inman RD
Curr Rheumatol Rep 2012 Oct;14(5):390-4. doi: 10.1007/s11926-012-0280-4. PMID: 22821199

Recent clinical studies

Etiology

Does SAPHO syndrome exist in dermatology?
Chen W, Ito T, Lin SH, Song Z, Al-Khuzaei S, Jurik AG, Plewig G
J Eur Acad Dermatol Venereol 2022 Sep;36(9):1501-1506. Epub 2022 May 12 doi: 10.1111/jdv.18172. PMID: 35462435
SAPHO syndrome and pustulotic arthro-osteitis.
Kishimoto M, Taniguchi Y, Tsuji S, Ishihara Y, Deshpande GA, Maeda K, Okada M, Komagata Y, Kobayashi S, Okubo Y, Tomita T, Kaname S
Mod Rheumatol 2022 Jul 1;32(4):665-674. doi: 10.1093/mr/roab103. PMID: 34967407
Comparative analysis and differentiation between SAPHO syndrome and spondyloarthropathies using whole-spine MRI.
Zhang LH, Han SB, Song L, Gao S, Zhao Q, Deng XL, Yuan HS
Clin Radiol 2021 May;76(5):394.e9-394.e14. Epub 2021 Jan 12 doi: 10.1016/j.crad.2020.12.005. PMID: 33451718
The SAPHO syndrome revisited with an emphasis on spinal manifestations.
Leone A, Cassar-Pullicino VN, Casale R, Magarelli N, Semprini A, Colosimo C
Skeletal Radiol 2015 Jan;44(1):9-24. Epub 2014 Oct 21 doi: 10.1007/s00256-014-2025-0. PMID: 25331355
The SAPHO syndrome.
Kahn MF, Khan MA
Baillieres Clin Rheumatol 1994 May;8(2):333-62. doi: 10.1016/s0950-3579(94)80022-7. PMID: 8076391

Diagnosis

SAPHO syndrome and pustulotic arthro-osteitis.
Kishimoto M, Taniguchi Y, Tsuji S, Ishihara Y, Deshpande GA, Maeda K, Okada M, Komagata Y, Kobayashi S, Okubo Y, Tomita T, Kaname S
Mod Rheumatol 2022 Jul 1;32(4):665-674. doi: 10.1093/mr/roab103. PMID: 34967407
New Insights into Adult and Paediatric Chronic Non-bacterial Osteomyelitis CNO.
Hedrich CM, Morbach H, Reiser C, Girschick HJ
Curr Rheumatol Rep 2020 Jul 23;22(9):52. doi: 10.1007/s11926-020-00928-1. PMID: 32705386Free PMC Article
SAPHO Syndrome: Current Developments and Approaches to Clinical Treatment.
Firinu D, Garcia-Larsen V, Manconi PE, Del Giacco SR
Curr Rheumatol Rep 2016 Jun;18(6):35. doi: 10.1007/s11926-016-0583-y. PMID: 27108452
SAPHO syndrome.
Carneiro S, Sampaio-Barros PD
Rheum Dis Clin North Am 2013 May;39(2):401-18. Epub 2013 Mar 13 doi: 10.1016/j.rdc.2013.02.009. PMID: 23597971
The SAPHO syndrome.
Nguyen MT, Borchers A, Selmi C, Naguwa SM, Cheema G, Gershwin ME
Semin Arthritis Rheum 2012 Dec;42(3):254-65. doi: 10.1016/j.semarthrit.2012.05.006. PMID: 23153960

Therapy

Acne in the first three decades of life: An update of a disorder with profound implications for all decades of life.
Greydanus DE, Azmeh R, Cabral MD, Dickson CA, Patel DR
Dis Mon 2021 Apr;67(4):101103. Epub 2020 Oct 9 doi: 10.1016/j.disamonth.2020.101103. PMID: 33041056
SAPHO syndrome.
Hirosawa T, Kawamoto S, Shimizu T
BMJ Case Rep 2019 Dec 2;12(12) doi: 10.1136/bcr-2019-233221. PMID: 31796447Free PMC Article
Biologics in SAPHO syndrome: A systematic review.
Daoussis D, Konstantopoulou G, Kraniotis P, Sakkas L, Liossis SN
Semin Arthritis Rheum 2019 Feb;48(4):618-625. Epub 2018 Apr 17 doi: 10.1016/j.semarthrit.2018.04.003. PMID: 29773231
SAPHO Syndrome: Current Developments and Approaches to Clinical Treatment.
Firinu D, Garcia-Larsen V, Manconi PE, Del Giacco SR
Curr Rheumatol Rep 2016 Jun;18(6):35. doi: 10.1007/s11926-016-0583-y. PMID: 27108452
The SAPHO syndrome.
Nguyen MT, Borchers A, Selmi C, Naguwa SM, Cheema G, Gershwin ME
Semin Arthritis Rheum 2012 Dec;42(3):254-65. doi: 10.1016/j.semarthrit.2012.05.006. PMID: 23153960

Prognosis

The effectiveness of treatments for patients with SAPHO syndrome: a follow-up study of 24 cases from a single center and review of literature.
Huang H, Zhang Z, Zhao J, Hao Y, Zhou W
Clin Rheumatol 2021 Mar;40(3):1131-1139. Epub 2020 Aug 13 doi: 10.1007/s10067-020-05322-x. PMID: 32789818
New Insights into Adult and Paediatric Chronic Non-bacterial Osteomyelitis CNO.
Hedrich CM, Morbach H, Reiser C, Girschick HJ
Curr Rheumatol Rep 2020 Jul 23;22(9):52. doi: 10.1007/s11926-020-00928-1. PMID: 32705386Free PMC Article
SAPHO, autophagy, IL-1, FoxO1, and Propionibacterium (Cutibacterium) acnes.
Berthelot JM, Corvec S, Hayem G
Joint Bone Spine 2018 Mar;85(2):171-176. Epub 2017 May 9 doi: 10.1016/j.jbspin.2017.04.010. PMID: 28499891
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome - A challenging diagnosis not to be missed.
Zimmermann P, Curtis N
J Infect 2016 Jul 5;72 Suppl:S106-14. Epub 2016 Jun 1 doi: 10.1016/j.jinf.2016.04.030. PMID: 27263075
SAPHO syndrome.
Cotten A, Flipo RM, Mentre A, Delaporte E, Duquesnoy B, Chastanet P
Radiographics 1995 Sep;15(5):1147-54. doi: 10.1148/radiographics.15.5.7501856. PMID: 7501856

Clinical prediction guides

Does SAPHO syndrome exist in dermatology?
Chen W, Ito T, Lin SH, Song Z, Al-Khuzaei S, Jurik AG, Plewig G
J Eur Acad Dermatol Venereol 2022 Sep;36(9):1501-1506. Epub 2022 May 12 doi: 10.1111/jdv.18172. PMID: 35462435
Comparative analysis and differentiation between SAPHO syndrome and spondyloarthropathies using whole-spine MRI.
Zhang LH, Han SB, Song L, Gao S, Zhao Q, Deng XL, Yuan HS
Clin Radiol 2021 May;76(5):394.e9-394.e14. Epub 2021 Jan 12 doi: 10.1016/j.crad.2020.12.005. PMID: 33451718
Clinical features and radiological findings of 67 patients with SAPHO syndrome.
Okuno H, Watanuki M, Kuwahara Y, Sekiguchi A, Mori Y, Hitachi S, Miura K, Ogura K, Watanabe M, Hosaka M, Hatori M, Itoi E, Sato K
Mod Rheumatol 2018 Jul;28(4):703-708. Epub 2017 Sep 21 doi: 10.1080/14397595.2017.1372874. PMID: 28880693
Depression in patients with SAPHO syndrome and its relationship with brain activity and connectivity.
Lu J, Duan Y, Zuo Z, Xu W, Zhang X, Li C, Xue R, Lu H, Zhang W
Orphanet J Rare Dis 2017 May 25;12(1):103. doi: 10.1186/s13023-017-0658-5. PMID: 28545486Free PMC Article
SAPHO syndrome.
Cotten A, Flipo RM, Mentre A, Delaporte E, Duquesnoy B, Chastanet P
Radiographics 1995 Sep;15(5):1147-54. doi: 10.1148/radiographics.15.5.7501856. PMID: 7501856

Recent systematic reviews

Orofacial manifestations of SAPHO syndrome: a systematic review of case reports.
Ferreira-Vilaca C, Costa Mendes L, Campana SC, Bailleul-Forestier I, Audouin-Pajot C, Esclassan R, Canceill T
Clin Rheumatol 2020 Nov;39(11):3277-3286. Epub 2020 May 9 doi: 10.1007/s10067-020-05084-6. PMID: 32388746
Biologics in SAPHO syndrome: A systematic review.
Daoussis D, Konstantopoulou G, Kraniotis P, Sakkas L, Liossis SN
Semin Arthritis Rheum 2019 Feb;48(4):618-625. Epub 2018 Apr 17 doi: 10.1016/j.semarthrit.2018.04.003. PMID: 29773231
Diffuse sclerosing osteomyelitis (DSO) of the mandible in SAPHO syndrome: a novel approach with anti-TNF therapy. Systematic review.
Marí A, Morla A, Melero M, Schiavone R, Rodríguez J
J Craniomaxillofac Surg 2014 Dec;42(8):1990-6. Epub 2014 Sep 23 doi: 10.1016/j.jcms.2014.09.004. PMID: 25441866
A systematic review of SAPHO syndrome and inflammatory bowel disease association.
Naves JE, Cabré E, Mañosa M, Grados D, Olivé A, Domènech E
Dig Dis Sci 2013 Aug;58(8):2138-47. Epub 2013 Mar 30 doi: 10.1007/s10620-013-2653-6. PMID: 23543087
Imaging of low back pain in children and adolescents.
Faingold R, Saigal G, Azouz EM, Morales A, Albuquerque PA
Semin Ultrasound CT MR 2004 Dec;25(6):490-505. doi: 10.1053/j.sult.2004.09.005. PMID: 15663319

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