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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 genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
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

Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
Maniscalco V, Maccora I, Girodo F, Tomaselli M, Priolo G, Marrani E, Mastrolia MV, Pagnini I, Simonini G
Expert Opin Biol Ther 2023 May;23(5):429-441. Epub 2023 May 19 doi: 10.1080/14712598.2023.2215923. PMID: 37195125
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

Recent clinical studies

Etiology

Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
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
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
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
Kahn MF, Khan MA
Baillieres Clin Rheumatol 1994 May;8(2):333-62. doi: 10.1016/s0950-3579(94)80022-7. PMID: 8076391

Diagnosis

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
Hirosawa T, Kawamoto S, Shimizu T
BMJ Case Rep 2019 Dec 2;12(12) doi: 10.1136/bcr-2019-233221. PMID: 31796447Free PMC Article
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
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
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

Therapy

Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
Maniscalco V, Maccora I, Girodo F, Tomaselli M, Priolo G, Marrani E, Mastrolia MV, Pagnini I, Simonini G
Expert Opin Biol Ther 2023 May;23(5):429-441. Epub 2023 May 19 doi: 10.1080/14712598.2023.2215923. PMID: 37195125
Hirosawa T, Kawamoto S, Shimizu T
BMJ Case Rep 2019 Dec 2;12(12) doi: 10.1136/bcr-2019-233221. PMID: 31796447Free PMC Article
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
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

Duan H, Gao S, Zhang L, Song L, Zhai J, Deng X
Clin Rheumatol 2024 Jan;43(1):561-568. Epub 2023 Sep 27 doi: 10.1007/s10067-023-06782-7. PMID: 37755548
Sun Y, Li C, Yu W, Huo G, Zhu M, Zhao P, Wang T, Huang G, Xu A
J Proteomics 2022 Jan 16;251:104399. Epub 2021 Oct 27 doi: 10.1016/j.jprot.2021.104399. PMID: 34718201
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
Earwaker JW, Cotten A
Skeletal Radiol 2003 Jun;32(6):311-27. Epub 2003 Apr 29 doi: 10.1007/s00256-003-0629-x. PMID: 12719925
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

Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
Li C, Xu H, Gong L, Wang A, Dong X, Yuan K, Huang G, Wei S, Sun L
Orphanet J Rare Dis 2022 Oct 21;17(1):381. doi: 10.1186/s13023-022-02523-2. PMID: 36271426Free PMC Article
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
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
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

Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
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
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
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
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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