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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.
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

Treatment of Severe Palmoplantar Pustular Psoriasis With Bimekizumab.
Passeron T, Perrot JL, Jullien D, Goujon C, Ruer M, Boyé T, Villani AP, Quiles Tsimaratos N
JAMA Dermatol 2024 Feb 1;160(2):199-203. doi: 10.1001/jamadermatol.2023.5051. PMID: 38054800Free PMC Article
SAPHO syndrome: current clinical, diagnostic and treatment approaches.
Demirci Yildirim T, Sari İ
Rheumatol Int 2024 Nov;44(11):2301-2313. Epub 2023 Oct 27 doi: 10.1007/s00296-023-05491-3. PMID: 37889264
Treatment and monitoring of SAPHO syndrome: a systematic review.
Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article

Recent clinical studies

Etiology

Treatment of Severe Palmoplantar Pustular Psoriasis With Bimekizumab.
Passeron T, Perrot JL, Jullien D, Goujon C, Ruer M, Boyé T, Villani AP, Quiles Tsimaratos N
JAMA Dermatol 2024 Feb 1;160(2):199-203. doi: 10.1001/jamadermatol.2023.5051. PMID: 38054800Free PMC Article
Treatment and monitoring of SAPHO syndrome: a systematic review.
Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
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
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: current clinical, diagnostic and treatment approaches.
Demirci Yildirim T, Sari İ
Rheumatol Int 2024 Nov;44(11):2301-2313. Epub 2023 Oct 27 doi: 10.1007/s00296-023-05491-3. PMID: 37889264
Treatment and monitoring of SAPHO syndrome: a systematic review.
Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
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
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
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

Therapy

Is apremilast a treatment for SAPHO syndrome?
Zhang J, Li Y, Wang J, Jiang H, Qi J, Li C, Ying Z
J Dermatolog Treat 2024 Dec;35(1):2300743. Epub 2024 Jan 17 doi: 10.1080/09546634.2023.2300743. PMID: 38230420
Treatment of Severe Palmoplantar Pustular Psoriasis With Bimekizumab.
Passeron T, Perrot JL, Jullien D, Goujon C, Ruer M, Boyé T, Villani AP, Quiles Tsimaratos N
JAMA Dermatol 2024 Feb 1;160(2):199-203. doi: 10.1001/jamadermatol.2023.5051. PMID: 38054800Free PMC Article
Treatment and monitoring of SAPHO syndrome: a systematic review.
Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
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
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 clinical characteristics and prognosis of patients with SAPHO syndrome--a real-world cohort study.
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
Complement system deregulation in SAPHO syndrome revealed by proteomic profiling.
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
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
Infection of the appendicular skeleton.
Bohndorf K
Eur Radiol 2004 Mar;14 Suppl 3:E53-63. doi: 10.1007/s00330-003-2039-9. PMID: 14749963
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

Treatment of Severe Palmoplantar Pustular Psoriasis With Bimekizumab.
Passeron T, Perrot JL, Jullien D, Goujon C, Ruer M, Boyé T, Villani AP, Quiles Tsimaratos N
JAMA Dermatol 2024 Feb 1;160(2):199-203. doi: 10.1001/jamadermatol.2023.5051. PMID: 38054800Free PMC Article
SAPHO syndrome: current clinical, diagnostic and treatment approaches.
Demirci Yildirim T, Sari İ
Rheumatol Int 2024 Nov;44(11):2301-2313. Epub 2023 Oct 27 doi: 10.1007/s00296-023-05491-3. PMID: 37889264
Treatment and monitoring of SAPHO syndrome: a systematic review.
Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
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.
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

A statistical symptomatic evaluation on SAPHO syndrome from 56 cases of confirmed diagnosis and 352 cases of non-SAPHO involvement.
Qiu C, Li M, Wu Q, Zhou J, Liu T, Li J, Liu J, Cheng L, Hong Y, Luo D, Yan J, Pan W, Wang Z, Wang Q, Liu X, Wang L
Clin Rheumatol 2024 May;43(5):1763-1775. Epub 2024 Mar 6 doi: 10.1007/s10067-024-06887-7. PMID: 38446355
Treatment and monitoring of SAPHO syndrome: a systematic review.
Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
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
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

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