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PFAPA syndrome

MedGen UID:
909507
Concept ID:
C4082167
Disease or Syndrome
Synonym: Periodic fever-aphtous stomatitis-pharyngitis-adenopathy
SNOMED CT: Periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome (717231003); PFAPA syndrome (717231003); Marshall syndrome with periodic fever (717231003)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0018540
Orphanet: ORPHA42642

Definition

An auto inflammatory syndrome with characteristics of recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. Usually presents during early childhood with recurrent episodes of fever during which children appear very ill. Aphthous stomatitis presents with relatively painless small, round and shallow lesions on the tongue and oral mucosa that recover completely in 10-14 days. Most patients present with tonsillitis, occasionally with white exudates and a general pharyngitis. Episodes recur every 3-5 weeks, often in a predictable fashion with patients describing a mild malaise the day before recurrence. [from SNOMEDCT_US]

Term Hierarchy

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

Professional guidelines

PubMed

Amarilyo G, Rothman D, Manthiram K, Edwards KM, Li SC, Marshall GS, Yildirim-Toruner C, Haines K, Ferguson PJ, Lionetti G, Cherian J, Zhao Y, DeLaMora P, Syverson G, Nativ S, Twilt M, Michelow IC, Stepanovskiy Y, Thatayatikom A, Harel L, Akoghlanian S, Tucker L, Marques MC, Srinivasalu H, Propst EJ, Licameli GR, Dedeoglu F, Lapidus S; CARRA PFAPA Consensus Treatment Plan Workgroup
Pediatr Rheumatol Online J 2020 Apr 15;18(1):31. doi: 10.1186/s12969-020-00424-x. PMID: 32293478Free PMC Article
Vanoni F, Theodoropoulou K, Hofer M
Pediatr Rheumatol Online J 2016 Jun 27;14(1):38. doi: 10.1186/s12969-016-0101-9. PMID: 27349388Free PMC Article
Peridis S, Pilgrim G, Koudoumnakis E, Athanasopoulos I, Houlakis M, Parpounas K
Int J Pediatr Otorhinolaryngol 2010 Nov;74(11):1203-8. Epub 2010 Sep 15 doi: 10.1016/j.ijporl.2010.08.014. PMID: 20832871

Recent clinical studies

Etiology

Gómez-Caverzaschi V, Yagüe J, Espinosa G, Mayordomo-Bofill I, Bedón-Galarza R, Araújo O, Pelegrín L, Arbelo E, Morales X, Balagué O, Figueras-Nart I, Mascaró JM, Fuertes I, Giavedoni P, Muxí A, Alobid I, Vilaseca I, Cervera R, Aróstegui JI, Mensa-Vilaró A, Hernández-Rodríguez J
Autoimmun Rev 2024 Jul-Aug;23(7-8):103520. Epub 2024 Mar 30 doi: 10.1016/j.autrev.2024.103520. PMID: 38561135
Kuzu S, Günebakan Ç, Yıldız E, Kahveci OK, Bucak A
Am J Otolaryngol 2021 May-Jun;42(3):102903. Epub 2021 Jan 8 doi: 10.1016/j.amjoto.2021.102903. PMID: 33485050
Amarilyo G, Rothman D, Manthiram K, Edwards KM, Li SC, Marshall GS, Yildirim-Toruner C, Haines K, Ferguson PJ, Lionetti G, Cherian J, Zhao Y, DeLaMora P, Syverson G, Nativ S, Twilt M, Michelow IC, Stepanovskiy Y, Thatayatikom A, Harel L, Akoghlanian S, Tucker L, Marques MC, Srinivasalu H, Propst EJ, Licameli GR, Dedeoglu F, Lapidus S; CARRA PFAPA Consensus Treatment Plan Workgroup
Pediatr Rheumatol Online J 2020 Apr 15;18(1):31. doi: 10.1186/s12969-020-00424-x. PMID: 32293478Free PMC Article
Burton MJ, Pollard AJ, Ramsden JD, Chong LY, Venekamp RP
Cochrane Database Syst Rev 2014 Sep 11;(9):CD008669. doi: 10.1002/14651858.CD008669.pub2. PMID: 25209127
Scholl PR
Curr Opin Pediatr 2000 Dec;12(6):563-6. doi: 10.1097/00008480-200012000-00009. PMID: 11106276

Diagnosis

Demir F, Sözeri B
Clin Exp Rheumatol 2023 Oct;41(10):2115-2121. Epub 2023 Oct 9 doi: 10.55563/clinexprheumatol/kzggp3. PMID: 37877365
Gardner NJ
JAAPA 2023 Oct 1;36(10):1-5. doi: 10.1097/01.JAA.0000977712.81696.b9. PMID: 37751263
Manthiram K
Curr Opin Rheumatol 2023 Nov 1;35(6):423-428. Epub 2023 Jul 17 doi: 10.1097/BOR.0000000000000956. PMID: 37467064Free PMC Article
Ali NS, Sartori-Valinotti JC, Bruce AJ
Clin Dermatol 2016 Jul-Aug;34(4):482-6. Epub 2016 Mar 2 doi: 10.1016/j.clindermatol.2016.02.021. PMID: 27343963
Burton MJ, Pollard AJ, Ramsden JD, Chong LY, Venekamp RP
Cochrane Database Syst Rev 2014 Sep 11;(9):CD008669. doi: 10.1002/14651858.CD008669.pub2. PMID: 25209127

Therapy

Demir F, Sözeri B
Clin Exp Rheumatol 2023 Oct;41(10):2115-2121. Epub 2023 Oct 9 doi: 10.55563/clinexprheumatol/kzggp3. PMID: 37877365
Soriano A, Soriano M, Espinosa G, Manna R, Emmi G, Cantarini L, Hernández-Rodríguez J
Front Immunol 2020;11:865. Epub 2020 Jun 3 doi: 10.3389/fimmu.2020.00865. PMID: 32655539Free PMC Article
Amarilyo G, Rothman D, Manthiram K, Edwards KM, Li SC, Marshall GS, Yildirim-Toruner C, Haines K, Ferguson PJ, Lionetti G, Cherian J, Zhao Y, DeLaMora P, Syverson G, Nativ S, Twilt M, Michelow IC, Stepanovskiy Y, Thatayatikom A, Harel L, Akoghlanian S, Tucker L, Marques MC, Srinivasalu H, Propst EJ, Licameli GR, Dedeoglu F, Lapidus S; CARRA PFAPA Consensus Treatment Plan Workgroup
Pediatr Rheumatol Online J 2020 Apr 15;18(1):31. doi: 10.1186/s12969-020-00424-x. PMID: 32293478Free PMC Article
Vanoni F, Theodoropoulou K, Hofer M
Pediatr Rheumatol Online J 2016 Jun 27;14(1):38. doi: 10.1186/s12969-016-0101-9. PMID: 27349388Free PMC Article
Burton MJ, Pollard AJ, Ramsden JD, Chong LY, Venekamp RP
Cochrane Database Syst Rev 2014 Sep 11;(9):CD008669. doi: 10.1002/14651858.CD008669.pub2. PMID: 25209127

Prognosis

Manthiram K
Curr Opin Rheumatol 2023 Nov 1;35(6):423-428. Epub 2023 Jul 17 doi: 10.1097/BOR.0000000000000956. PMID: 37467064Free PMC Article
Otar Yener G, Aktaş İ, Altıntaş Meşe C, Çakan M
Eur J Pediatr 2023 Jan;182(1):411-417. Epub 2022 Nov 15 doi: 10.1007/s00431-022-04709-z. PMID: 36376520Free PMC Article
Batu ED
Rheumatol Int 2019 Jun;39(6):957-970. Epub 2019 Feb 23 doi: 10.1007/s00296-019-04257-0. PMID: 30798384
Rigante D, Gentileschi S, Vitale A, Tarantino G, Cantarini L
Isr Med Assoc J 2017 Jul;19(7):444-447. PMID: 28786261
Burton MJ, Pollard AJ, Ramsden JD
Cochrane Database Syst Rev 2010 Sep 8;(9):CD008669. doi: 10.1002/14651858.CD008669. PMID: 20824883

Clinical prediction guides

Kapustova L, Banovcin P, Bobcakova A, Jurkova Malicherova E, Kapustova D, Petrovicova O, Slenker B, Markocsy A, Oleksak F, Vorcakova K, Jesenak M
Front Immunol 2023;14:1302875. Epub 2023 Dec 7 doi: 10.3389/fimmu.2023.1302875. PMID: 38143757Free PMC Article
Manthiram K
Curr Opin Rheumatol 2023 Nov 1;35(6):423-428. Epub 2023 Jul 17 doi: 10.1097/BOR.0000000000000956. PMID: 37467064Free PMC Article
Gaggiano C, Rigante D, Sota J, Grosso S, Cantarini L
Clin Rheumatol 2019 Jan;38(1):11-17. Epub 2018 Nov 28 doi: 10.1007/s10067-018-4361-2. PMID: 30488366
Rigante D, Gentileschi S, Vitale A, Tarantino G, Cantarini L
Isr Med Assoc J 2017 Jul;19(7):444-447. PMID: 28786261
Burton MJ, Pollard AJ, Ramsden JD
Cochrane Database Syst Rev 2010 Sep 8;(9):CD008669. doi: 10.1002/14651858.CD008669. PMID: 20824883

Recent systematic reviews

Burton MJ, Pollard AJ, Ramsden JD, Chong LY, Venekamp RP
Cochrane Database Syst Rev 2019 Dec 30;12(12):CD008669. doi: 10.1002/14651858.CD008669.pub3. PMID: 31886897Free PMC Article
Burton MJ, Pollard AJ, Ramsden JD, Chong LY, Venekamp RP
Cochrane Database Syst Rev 2014 Sep 11;(9):CD008669. doi: 10.1002/14651858.CD008669.pub2. PMID: 25209127
Baccaglini L, Lalla RV, Bruce AJ, Sartori-Valinotti JC, Latortue MC, Carrozzo M, Rogers RS 3rd
Oral Dis 2011 Nov;17(8):755-70. Epub 2011 Aug 4 doi: 10.1111/j.1601-0825.2011.01840.x. PMID: 21812866Free PMC Article
Burton MJ, Pollard AJ, Ramsden JD
Cochrane Database Syst Rev 2010 Sep 8;(9):CD008669. doi: 10.1002/14651858.CD008669. PMID: 20824883
Leong SC, Karkos PD, Apostolidou MT
Int J Pediatr Otorhinolaryngol 2006 Nov;70(11):1841-5. Epub 2006 Aug 14 doi: 10.1016/j.ijporl.2006.07.002. PMID: 16908073

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