Familial mediterranean fever differential diagnosis: Difference between revisions

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__NOTOC__
__NOTOC__
{{Familial mediterranean fever}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Familial_mediterranean_fever]]


{{CMG}}; {{AE}} {{Sahar}}
==Overview==
Familial mediterranean fever must be differentiated from other diseases that cause [[fever]], [[fatigue]], [[weight loss]], [[arthralgia]], [[myalgia]], [[rash]] and [[soft tissue]] [[swelling]].
==Differential diagnosis==
==Differential diagnosis==
Familial mediterranean fever (FMF) should be differentiated from other conditions presenting with [[fever]], [[fatigue]], [[weight loss]], [[arthralgia]], [[myalgia]], [[rash]] and [[soft tissue]] [[swelling]]. The differentials include the following:<ref name="pmid18163139">{{cite journal |vauthors=Ejilemele AA, Nwauche CA, Ejele OA |title=Pattern of abnormal liver enzymes in HIV patients presenting at a Nigerian Tertiary Hospital |journal=Niger Postgrad Med J |volume=14 |issue=4 |pages=306–9 |date=December 2007 |pmid=18163139 |doi= |url=}}</ref><ref name="pmid1579936">{{cite journal |vauthors=Gøransson LG, Omdal R, Husby G |title=[Adult-onset Still's disease. Diagnosis, differential diagnosis and treatment] |language=Norwegian |journal=Tidsskr. Nor. Laegeforen. |volume=112 |issue=9 |pages=1155–5 |date=March 1992 |pmid=1579936 |doi= |url=}}</ref><ref name="pmid21734024">{{cite journal |vauthors=Hatakka A, Klein J, He R, Piper J, Tam E, Walkty A |title=Acute hepatitis as a manifestation of parvovirus B19 infection |journal=J. Clin. Microbiol. |volume=49 |issue=9 |pages=3422–4 |date=September 2011 |pmid=21734024 |pmc=3165617 |doi=10.1128/JCM.00575-11 |url=}}</ref><ref name="pmid25780346">{{cite journal |vauthors=Yaguchi D, Marui N, Matsuo M |title=Three Adult Cases of HPV-B19 Infection with Concomitant Leukopenia and Low Platelet Counts |journal=Clin Med Insights Case Rep |volume=8 |issue= |pages=19–22 |date=2015 |pmid=25780346 |pmc=4345940 |doi=10.4137/CCRep.S18085 |url=}}</ref><ref name="pmid11810534">{{cite journal |vauthors=Díaz F, Collazos J |title=Hepatic dysfunction due to parvovirus B19 infection |journal=J. Infect. Chemother. |volume=6 |issue=1 |pages=63–4 |date=March 2000 |pmid=11810534 |doi=10.1007/s101560000023 |url=}}</ref><ref name="urlwatermark.silverchair.com">{{cite web |url=https://watermark.silverchair.com/22-5-783.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAaUwggGhBgkqhkiG9w0BBwagggGSMIIBjgIBADCCAYcGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMNepsAzlRiawaxgMCAgEQgIIBWCcwAN4r_jjoL6cD8qOBCgCIgpagHIemSBzmiP_c08L34mY51H7ulShPj9n2yDVBVRols0OgZEIsKVl8kHD_89enHvhFrJOIh8cF7GxZ_AXULME_iReJXr37VWLU5bWFrtZHafAg_cvOdP8mr5u5K8TzGLBtd5VfQb2MGyXZhz-hpKGZbfMr33rJio00VHcFn_aS5wjB-h6fny_rsD4fwLj5xSWNB0_JEYq9g0-mS7y_igwhIZlismSrS4-svrkx46SDLpKqkTrJmImyDBGTj1Qi3INV8KT66j4j6z2wju7sRKvWxQAsoJhN6D8zxx5PQkth3gLDch3wLW_sn9o8q7sBlO25ONobKarrln8nwsS4f-9wHmPs82ZySggX4SgVtrMn6tr3lMVcroGV9fjOIcQQuk_KRq01ErxBdPtynPVbAZhmInGIJ0_LYqvOKplDpNnMHZZaEQYd |title=watermark.silverchair.com |format= |work= |accessdate=}}</ref><ref name="pmid23355575">{{cite journal |vauthors=Shetty RK, Vivek G, Naha K, Bekkam S |title=Right-sided infective endocarditis presenting with purpuric skin rash and cardiac failure in a patient without fever |journal=BMJ Case Rep |volume=2013 |issue= |pages= |date=January 2013 |pmid=23355575 |pmc=3603787 |doi=10.1136/bcr-2012-007841 |url=}}</ref><ref name="pmid23133445">{{cite journal |vauthors=Aucott JN, Crowder LA, Yedlin V, Kortte KB |title=Bull's-Eye and Nontarget Skin Lesions of Lyme Disease: An Internet Survey of Identification of Erythema Migrans |journal=Dermatol Res Pract |volume=2012 |issue= |pages=451727 |date=2012 |pmid=23133445 |pmc=3485866 |doi=10.1155/2012/451727 |url=}}</ref><ref name="pmid21772606">{{cite journal |vauthors=Karaali Z, Baysal B, Poturoglu S, Kendir M |title=Cutaneous manifestations in brucellosis |journal=Indian J Dermatol |volume=56 |issue=3 |pages=339–40 |date=May 2011 |pmid=21772606 |pmc=3132922 |doi=10.4103/0019-5154.82505 |url=}}</ref><ref name="pmid18843212">{{cite journal |vauthors=La Spada E, Micalizzi A, La Spada M, Quartarano P, Nugara G, Soresi M, Affronti M, Montalto G |title=[Abnormal liver function in brucellosis] |language=Italian |journal=Infez Med |volume=16 |issue=3 |pages=148–53 |date=September 2008 |pmid=18843212 |doi= |url=}}</ref><ref name="pmid17235095">{{cite journal |vauthors=French P |title=Syphilis |journal=BMJ |volume=334 |issue=7585 |pages=143–7 |date=January 2007 |pmid=17235095 |pmc=1779891 |doi=10.1136/bmj.39085.518148.BE |url=}}</ref><ref name="urlSyphilis: Review with Emphasis on Clinical, Epidemiologic, and Some Biologic Features">{{cite web |url=http://cmr.asm.org/content/12/2/187.full |title=Syphilis: Review with Emphasis on Clinical, Epidemiologic, and Some Biologic Features |format= |work= |accessdate=}}</ref><ref name="pmid24700957">{{cite journal |vauthors=Baveja S, Garg S, Rajdeo A |title=Syphilitic hepatitis: an uncommon manifestation of a common disease |journal=Indian J Dermatol |volume=59 |issue=2 |pages=209 |date=March 2014 |pmid=24700957 |pmc=3969699 |doi=10.4103/0019-5154.127711 |url=}}</ref><ref name="pmid1600010">{{cite journal |vauthors=Mawhorter SD, Effron D, Blinkhorn R, Spagnuolo PJ |title=Cutaneous manifestations of toxoplasmosis |journal=Clin. Infect. Dis. |volume=14 |issue=5 |pages=1084–8 |date=May 1992 |pmid=1600010 |doi= |url=}}</ref><ref name="pmid24662942">{{cite journal |vauthors=Flegr J, Prandota J, Sovičková M, Israili ZH |title=Toxoplasmosis--a global threat. Correlation of latent toxoplasmosis with specific disease burden in a set of 88 countries |journal=PLoS ONE |volume=9 |issue=3 |pages=e90203 |date=2014 |pmid=24662942 |pmc=3963851 |doi=10.1371/journal.pone.0090203 |url=}}</ref><ref name="pmid21887062">{{cite journal |vauthors=Furtado JM, Smith JR, Belfort R, Gattey D, Winthrop KL |title=Toxoplasmosis: a global threat |journal=J Glob Infect Dis |volume=3 |issue=3 |pages=281–4 |date=July 2011 |pmid=21887062 |pmc=3162817 |doi=10.4103/0974-777X.83536 |url=}}</ref><ref name="pmid10808314">{{cite journal |vauthors=Ripert C |title=[Reactive hypereosinophilia in parasitic diseases] |language=French |journal=Rev Prat |volume=50 |issue=6 |pages=602–7 |date=March 2000 |pmid=10808314 |doi= |url=}}</ref><ref name="pmid21569516">{{cite journal |vauthors=Alvarado-Esquivel C, Torres-Berumen JL, Estrada-Martínez S, Liesenfeld O, Mercado-Suarez MF |title=Toxoplasma gondii infection and liver disease: a case-control study in a northern Mexican population |journal=Parasit Vectors |volume=4 |issue= |pages=75 |date=May 2011 |pmid=21569516 |pmc=3105944 |doi=10.1186/1756-3305-4-75 |url=}}</ref><ref name="pmid5339237">{{cite journal |vauthors=Han T, Stutzman L |title=Mode of spread in patients with localized malignant lymphoma |journal=Arch. Intern. Med. |volume=120 |issue=1 |pages=1–7 |date=July 1967 |pmid=5339237 |doi= |url=}}</ref><ref name="pmid23071471">{{cite journal |vauthors=Saeed-Abdul-Rahman I, Al-Amri AM |title=Castleman disease |journal=Korean J Hematol |volume=47 |issue=3 |pages=163–77 |date=September 2012 |pmid=23071471 |pmc=3464333 |doi=10.5045/kjh.2012.47.3.163 |url=}}</ref><ref name="pmid230714712">{{cite journal |vauthors=Saeed-Abdul-Rahman I, Al-Amri AM |title=Castleman disease |journal=Korean J Hematol |volume=47 |issue=3 |pages=163–77 |date=September 2012 |pmid=23071471 |pmc=3464333 |doi=10.5045/kjh.2012.47.3.163 |url=}}</ref><ref name="pmid21063526">{{cite journal |vauthors=Papadavid E, Panayiotides I, Dalamaga M, Katoulis A, Economopoulos T, Stavrianeas N |title=Cutaneous involvement in angioimmunoblastic T-cell lymphoma |journal=Indian J Dermatol |volume=55 |issue=3 |pages=279–80 |date=2010 |pmid=21063526 |pmc=2965920 |doi=10.4103/0019-5154.70704 |url=}}</ref><ref name="pmid26120552">{{cite journal |vauthors=Brockow K, Przybilla B, Aberer W, Bircher AJ, Brehler R, Dickel H, Fuchs T, Jakob T, Lange L, Pfützner W, Mockenhaupt M, Ott H, Pfaar O, Ring J, Sachs B, Sitter H, Trautmann A, Treudler R, Wedi B, Worm M, Wurpts G, Zuberbier T, Merk HF |title=Guideline for the diagnosis of drug hypersensitivity reactions: S2K-Guideline of the German Society for Allergology and Clinical Immunology (DGAKI) and the German Dermatological Society (DDG) in collaboration with the Association of German Allergologists (AeDA), the German Society for Pediatric Allergology and Environmental Medicine (GPA), the German Contact Dermatitis Research Group (DKG), the Swiss Society for Allergy and Immunology (SGAI), the Austrian Society for Allergology and Immunology (ÖGAI), the German Academy of Allergology and Environmental Medicine (DAAU), the German Center for Documentation of Severe Skin Reactions and the German Federal Institute for Drugs and Medical Products (BfArM) |journal=Allergo J Int |volume=24 |issue=3 |pages=94–105 |date=2015 |pmid=26120552 |pmc=4479479 |doi=10.1007/s40629-015-0052-6 |url=}}</ref><ref name="pmid15745878">{{cite journal |vauthors=Medlej-Hashim M, Loiselet J, Lefranc G, Mégarbané A |title=[Familial Mediterranean Fever (FMF): from diagnosis to treatment] |language=French |journal=Sante |volume=14 |issue=4 |pages=261–6 |date=2004 |pmid=15745878 |doi= |url=}}</ref><ref name="pmid27142780">{{cite journal |vauthors=Zhang S |title=Natural history of mevalonate kinase deficiency: a literature review |journal=Pediatr Rheumatol Online J |volume=14 |issue=1 |pages=30 |date=May 2016 |pmid=27142780 |pmc=4855321 |doi=10.1186/s12969-016-0091-7 |url=}}</ref>
Familial mediterranean fever (FMF) should be differentiated from other conditions presenting with [[fever]], [[fatigue]], [[weight loss]], [[arthralgia]], [[myalgia]], [[rash]] and [[soft tissue]] [[swelling]]. The differentials include the following:<ref name="pmid18163139">{{cite journal |vauthors=Ejilemele AA, Nwauche CA, Ejele OA |title=Pattern of abnormal liver enzymes in HIV patients presenting at a Nigerian Tertiary Hospital |journal=Niger Postgrad Med J |volume=14 |issue=4 |pages=306–9 |date=December 2007 |pmid=18163139 |doi= |url=}}</ref><ref name="pmid1579936">{{cite journal |vauthors=Gøransson LG, Omdal R, Husby G |title=[Adult-onset Still's disease. Diagnosis, differential diagnosis and treatment] |language=Norwegian |journal=Tidsskr. Nor. Laegeforen. |volume=112 |issue=9 |pages=1155–5 |date=March 1992 |pmid=1579936 |doi= |url=}}</ref><ref name="pmid21734024">{{cite journal |vauthors=Hatakka A, Klein J, He R, Piper J, Tam E, Walkty A |title=Acute hepatitis as a manifestation of parvovirus B19 infection |journal=J. Clin. Microbiol. |volume=49 |issue=9 |pages=3422–4 |date=September 2011 |pmid=21734024 |pmc=3165617 |doi=10.1128/JCM.00575-11 |url=}}</ref><ref name="pmid25780346">{{cite journal |vauthors=Yaguchi D, Marui N, Matsuo M |title=Three Adult Cases of HPV-B19 Infection with Concomitant Leukopenia and Low Platelet Counts |journal=Clin Med Insights Case Rep |volume=8 |issue= |pages=19–22 |date=2015 |pmid=25780346 |pmc=4345940 |doi=10.4137/CCRep.S18085 |url=}}</ref><ref name="pmid11810534">{{cite journal |vauthors=Díaz F, Collazos J |title=Hepatic dysfunction due to parvovirus B19 infection |journal=J. Infect. Chemother. |volume=6 |issue=1 |pages=63–4 |date=March 2000 |pmid=11810534 |doi=10.1007/s101560000023 |url=}}</ref><ref name="urlwatermark.silverchair.com">{{cite web |url=https://watermark.silverchair.com/22-5-783.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAaUwggGhBgkqhkiG9w0BBwagggGSMIIBjgIBADCCAYcGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMNepsAzlRiawaxgMCAgEQgIIBWCcwAN4r_jjoL6cD8qOBCgCIgpagHIemSBzmiP_c08L34mY51H7ulShPj9n2yDVBVRols0OgZEIsKVl8kHD_89enHvhFrJOIh8cF7GxZ_AXULME_iReJXr37VWLU5bWFrtZHafAg_cvOdP8mr5u5K8TzGLBtd5VfQb2MGyXZhz-hpKGZbfMr33rJio00VHcFn_aS5wjB-h6fny_rsD4fwLj5xSWNB0_JEYq9g0-mS7y_igwhIZlismSrS4-svrkx46SDLpKqkTrJmImyDBGTj1Qi3INV8KT66j4j6z2wju7sRKvWxQAsoJhN6D8zxx5PQkth3gLDch3wLW_sn9o8q7sBlO25ONobKarrln8nwsS4f-9wHmPs82ZySggX4SgVtrMn6tr3lMVcroGV9fjOIcQQuk_KRq01ErxBdPtynPVbAZhmInGIJ0_LYqvOKplDpNnMHZZaEQYd |title=watermark.silverchair.com |format= |work= |accessdate=}}</ref><ref name="pmid23355575">{{cite journal |vauthors=Shetty RK, Vivek G, Naha K, Bekkam S |title=Right-sided infective endocarditis presenting with purpuric skin rash and cardiac failure in a patient without fever |journal=BMJ Case Rep |volume=2013 |issue= |pages= |date=January 2013 |pmid=23355575 |pmc=3603787 |doi=10.1136/bcr-2012-007841 |url=}}</ref><ref name="pmid23133445">{{cite journal |vauthors=Aucott JN, Crowder LA, Yedlin V, Kortte KB |title=Bull's-Eye and Nontarget Skin Lesions of Lyme Disease: An Internet Survey of Identification of Erythema Migrans |journal=Dermatol Res Pract |volume=2012 |issue= |pages=451727 |date=2012 |pmid=23133445 |pmc=3485866 |doi=10.1155/2012/451727 |url=}}</ref><ref name="pmid21772606">{{cite journal |vauthors=Karaali Z, Baysal B, Poturoglu S, Kendir M |title=Cutaneous manifestations in brucellosis |journal=Indian J Dermatol |volume=56 |issue=3 |pages=339–40 |date=May 2011 |pmid=21772606 |pmc=3132922 |doi=10.4103/0019-5154.82505 |url=}}</ref><ref name="pmid18843212">{{cite journal |vauthors=La Spada E, Micalizzi A, La Spada M, Quartarano P, Nugara G, Soresi M, Affronti M, Montalto G |title=[Abnormal liver function in brucellosis] |language=Italian |journal=Infez Med |volume=16 |issue=3 |pages=148–53 |date=September 2008 |pmid=18843212 |doi= |url=}}</ref><ref name="pmid17235095">{{cite journal |vauthors=French P |title=Syphilis |journal=BMJ |volume=334 |issue=7585 |pages=143–7 |date=January 2007 |pmid=17235095 |pmc=1779891 |doi=10.1136/bmj.39085.518148.BE |url=}}</ref><ref name="urlSyphilis: Review with Emphasis on Clinical, Epidemiologic, and Some Biologic Features">{{cite web |url=http://cmr.asm.org/content/12/2/187.full |title=Syphilis: Review with Emphasis on Clinical, Epidemiologic, and Some Biologic Features |format= |work= |accessdate=}}</ref><ref name="pmid24700957">{{cite journal |vauthors=Baveja S, Garg S, Rajdeo A |title=Syphilitic hepatitis: an uncommon manifestation of a common disease |journal=Indian J Dermatol |volume=59 |issue=2 |pages=209 |date=March 2014 |pmid=24700957 |pmc=3969699 |doi=10.4103/0019-5154.127711 |url=}}</ref><ref name="pmid1600010">{{cite journal |vauthors=Mawhorter SD, Effron D, Blinkhorn R, Spagnuolo PJ |title=Cutaneous manifestations of toxoplasmosis |journal=Clin. Infect. Dis. |volume=14 |issue=5 |pages=1084–8 |date=May 1992 |pmid=1600010 |doi= |url=}}</ref><ref name="pmid24662942">{{cite journal |vauthors=Flegr J, Prandota J, Sovičková M, Israili ZH |title=Toxoplasmosis--a global threat. Correlation of latent toxoplasmosis with specific disease burden in a set of 88 countries |journal=PLoS ONE |volume=9 |issue=3 |pages=e90203 |date=2014 |pmid=24662942 |pmc=3963851 |doi=10.1371/journal.pone.0090203 |url=}}</ref><ref name="pmid21887062">{{cite journal |vauthors=Furtado JM, Smith JR, Belfort R, Gattey D, Winthrop KL |title=Toxoplasmosis: a global threat |journal=J Glob Infect Dis |volume=3 |issue=3 |pages=281–4 |date=July 2011 |pmid=21887062 |pmc=3162817 |doi=10.4103/0974-777X.83536 |url=}}</ref><ref name="pmid10808314">{{cite journal |vauthors=Ripert C |title=[Reactive hypereosinophilia in parasitic diseases] |language=French |journal=Rev Prat |volume=50 |issue=6 |pages=602–7 |date=March 2000 |pmid=10808314 |doi= |url=}}</ref><ref name="pmid21569516">{{cite journal |vauthors=Alvarado-Esquivel C, Torres-Berumen JL, Estrada-Martínez S, Liesenfeld O, Mercado-Suarez MF |title=Toxoplasma gondii infection and liver disease: a case-control study in a northern Mexican population |journal=Parasit Vectors |volume=4 |issue= |pages=75 |date=May 2011 |pmid=21569516 |pmc=3105944 |doi=10.1186/1756-3305-4-75 |url=}}</ref><ref name="pmid5339237">{{cite journal |vauthors=Han T, Stutzman L |title=Mode of spread in patients with localized malignant lymphoma |journal=Arch. Intern. Med. |volume=120 |issue=1 |pages=1–7 |date=July 1967 |pmid=5339237 |doi= |url=}}</ref><ref name="pmid23071471">{{cite journal |vauthors=Saeed-Abdul-Rahman I, Al-Amri AM |title=Castleman disease |journal=Korean J Hematol |volume=47 |issue=3 |pages=163–77 |date=September 2012 |pmid=23071471 |pmc=3464333 |doi=10.5045/kjh.2012.47.3.163 |url=}}</ref><ref name="pmid230714712">{{cite journal |vauthors=Saeed-Abdul-Rahman I, Al-Amri AM |title=Castleman disease |journal=Korean J Hematol |volume=47 |issue=3 |pages=163–77 |date=September 2012 |pmid=23071471 |pmc=3464333 |doi=10.5045/kjh.2012.47.3.163 |url=}}</ref><ref name="pmid21063526">{{cite journal |vauthors=Papadavid E, Panayiotides I, Dalamaga M, Katoulis A, Economopoulos T, Stavrianeas N |title=Cutaneous involvement in angioimmunoblastic T-cell lymphoma |journal=Indian J Dermatol |volume=55 |issue=3 |pages=279–80 |date=2010 |pmid=21063526 |pmc=2965920 |doi=10.4103/0019-5154.70704 |url=}}</ref><ref name="pmid26120552">{{cite journal |vauthors=Brockow K, Przybilla B, Aberer W, Bircher AJ, Brehler R, Dickel H, Fuchs T, Jakob T, Lange L, Pfützner W, Mockenhaupt M, Ott H, Pfaar O, Ring J, Sachs B, Sitter H, Trautmann A, Treudler R, Wedi B, Worm M, Wurpts G, Zuberbier T, Merk HF |title=Guideline for the diagnosis of drug hypersensitivity reactions: S2K-Guideline of the German Society for Allergology and Clinical Immunology (DGAKI) and the German Dermatological Society (DDG) in collaboration with the Association of German Allergologists (AeDA), the German Society for Pediatric Allergology and Environmental Medicine (GPA), the German Contact Dermatitis Research Group (DKG), the Swiss Society for Allergy and Immunology (SGAI), the Austrian Society for Allergology and Immunology (ÖGAI), the German Academy of Allergology and Environmental Medicine (DAAU), the German Center for Documentation of Severe Skin Reactions and the German Federal Institute for Drugs and Medical Products (BfArM) |journal=Allergo J Int |volume=24 |issue=3 |pages=94–105 |date=2015 |pmid=26120552 |pmc=4479479 |doi=10.1007/s40629-015-0052-6 |url=}}</ref><ref name="pmid15745878">{{cite journal |vauthors=Medlej-Hashim M, Loiselet J, Lefranc G, Mégarbané A |title=[Familial Mediterranean Fever (FMF): from diagnosis to treatment] |language=French |journal=Sante |volume=14 |issue=4 |pages=261–6 |date=2004 |pmid=15745878 |doi= |url=}}</ref><ref name="pmid27142780">{{cite journal |vauthors=Zhang S |title=Natural history of mevalonate kinase deficiency: a literature review |journal=Pediatr Rheumatol Online J |volume=14 |issue=1 |pages=30 |date=May 2016 |pmid=27142780 |pmc=4855321 |doi=10.1186/s12969-016-0091-7 |url=}}</ref>
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|-
|-
| rowspan="11" |
| rowspan="11" |
===[[Periodic fever syndrome|Autoinflammatory diseases]]===
===Autoinflammatory diseases===
| '''[[Familial mediterranean fever]]'''<ref>{{Cite journal
| '''[[Familial mediterranean fever]]'''<ref>{{Cite journal
  | author = [[M. Medlej-Hashim]], [[I. Petit]], [[S. Adib]], [[E. Chouery]], [[N. Salem]], [[V. Delague]], [[M. Rawashdeh]], [[I. Mansour]], [[G. Lefranc]], [[R. Naman]], [[J. Loiselet]], [[J. C. Lecron]], [[J. L. Serre]] & [[A. Megarbane]]
  | author = [[M. Medlej-Hashim]], [[I. Petit]], [[S. Adib]], [[E. Chouery]], [[N. Salem]], [[V. Delague]], [[M. Rawashdeh]], [[I. Mansour]], [[G. Lefranc]], [[R. Naman]], [[J. Loiselet]], [[J. C. Lecron]], [[J. L. Serre]] & [[A. Megarbane]]
Line 230: Line 233:
* [[Mutation]] in NLRP3 [[gene]]
* [[Mutation]] in NLRP3 [[gene]]
|-
|-
|'''PSTPIP1-associated Arthritis, pyoderma gangrenosum and acne (PAPA)'''<ref name="YeonLindor2000">{{cite journal|last1=Yeon|first1=Howard B.|last2=Lindor|first2=Noralane M.|last3=Seidman|first3=J.G.|last4=Seidman|first4=Christine E.|title=Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q|journal=The American Journal of Human Genetics|volume=66|issue=4|year=2000|pages=1443–1448|issn=00029297|doi=10.1086/302866}}</ref><ref name="SchellevisStoffels2011">{{cite journal|last1=Schellevis|first1=M. A.|last2=Stoffels|first2=M.|last3=Hoppenreijs|first3=E. P. A. H.|last4=Bodar|first4=E.|last5=Simon|first5=A.|last6=van der Meer|first6=J. W. M.|title=Variable expression and treatment of PAPA syndrome|journal=Annals of the Rheumatic Diseases|volume=70|issue=6|year=2011|pages=1168–1170|issn=0003-4967|doi=10.1136/ard.2009.126185}}</ref>
|'''[[Pyogenic sterile arthritis, pyoderma gangrenosum, acne]] ([[Papa syndrome]])'''<ref name="YeonLindor2000">{{cite journal|last1=Yeon|first1=Howard B.|last2=Lindor|first2=Noralane M.|last3=Seidman|first3=J.G.|last4=Seidman|first4=Christine E.|title=Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q|journal=The American Journal of Human Genetics|volume=66|issue=4|year=2000|pages=1443–1448|issn=00029297|doi=10.1086/302866}}</ref><ref name="SchellevisStoffels2011">{{cite journal|last1=Schellevis|first1=M. A.|last2=Stoffels|first2=M.|last3=Hoppenreijs|first3=E. P. A. H.|last4=Bodar|first4=E.|last5=Simon|first5=A.|last6=van der Meer|first6=J. W. M.|title=Variable expression and treatment of PAPA syndrome|journal=Annals of the Rheumatic Diseases|volume=70|issue=6|year=2011|pages=1168–1170|issn=0003-4967|doi=10.1136/ard.2009.126185}}</ref>
|
|
* [[Autosomal dominant]]
* [[Autosomal dominant]]

Latest revision as of 17:46, 1 August 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]

Overview

Familial mediterranean fever must be differentiated from other diseases that cause fever, fatigue, weight loss, arthralgia, myalgia, rash and soft tissue swelling.

Differential diagnosis

Familial mediterranean fever (FMF) should be differentiated from other conditions presenting with fever, fatigue, weight loss, arthralgia, myalgia, rash and soft tissue swelling. The differentials include the following:[1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25]

Category of Disease Diseases Signs and symptoms Laboratory findings
Inheritance pattern Fever duration Frequency of attacks Abdominal pain Arthralgia/Arthritis Chest pain Skin rash Myalgia/Body pain Diarrhea/Vomiting Neurologic manifestations Conjunctivitis Aphthous stomatitis Lymphadenopathy Splenomegaly Complete blood count (CBC) C- reactive protein (CRP)
Erythrocyte sedimentation rate (ESR) Other findings Genetic analysis

Autoinflammatory diseases

  Familial mediterranean fever[26][27]
  • 12-72 h
  • Weekly or 3-4 times/year
 + + + + + -/+ -/+ -/+ + ↑ ↑
 Hyper IgD with recurrent fever[27][28][29]
  • 3-7 days
  • Every 2-12 weeks
 + + + + + - +/- +/- +/- ↑ ↑
 TNF receptor-associated periodic syndrome[30][31]
  • 3-4 weeks
  • Variable
 + + -
  • Migrating rash with deep pain under the areas with the rash
  • Severe pain follows the rash path in a centrifugal pattern
 - - + - +/- + ↑ ↑
Muckle-Wells Syndrome[32][33]
  • 2-3 days
  • More common during cold seasons
 + + - + + + + - - ↑ ↑
  • Cold-triggered attacks
Familial cold urticaria[27][34]
  • 12-24 hours, or longer
  • Common in cold seasons
 - + - - - + +/- - - ↑ ↑
  • Cold-triggered attacks
Neonatal onset multisystem inflammatory disease[27][35][36]
  • Continuous
  • Common in cold seasons
 + + + + + +/- + ↑ ↑
Pyogenic sterile arthritis, pyoderma gangrenosum, acne (Papa syndrome)[37][38]
  • Variable
  • Variable
 +/- +/- +/- +/- - - - - - ↑ ↑
 Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA)[39][40][41]
  • Unkown
  • 3-6 days
  • Every 21-28 days
 + + - - + + - - + - ↑ ↑
  • Unknown
Blau syndrome[42][43]
  • Intermittent or persistent daily fever
  • Variable
 +/- + +/- + +/- - + +/- + ↑ ↑
Category of Disease Diseases Signs and symptoms Laboratory findings
Fever Fatigue Arthralgia Myalgia Soft tissue swelling/serositis Skin rash Weight loss Dyspnea Sore throat Lymphadenopathy Complete blood count (CBC) Liver function tests (LFTs)

Inflammatory markers

Autoantibodies

Diagnostic tests

Erythrocyte sedimentation rate (ESR) C- reactive protein (CRP) Anti-nuclear antibodies (ANA) Rheumatoid factor (RF) Anti- glomerular basement membrane (anti-GBM) Anti-dsDNA Anti-Jo1/ Anti Mi2 ANCA

Infections

  HIV + + + + +/- - + +/- + /- + ↑ ↑ - - - - - -
 Herpesviridae + + + + + - - +/- + - ↑ ↑ - - - - - -
 Measles + + + + - - - + + - ↑ ↑ - - - - - -
 Viral hepatitis + + - +/- - - +/- - - +/- ↑ ↑ - - - - - -
 Parvovirus B19 + + + +/- -
  • Slapped cheek rash
 - - - + ↑ ↑ - - - - - -
Infective endocarditis + + + +/- - +/- + - + - ↑ ↑ - - - - - - Blood cultures, ultrasonography
Borreliosis, Brucellosis, Yersiniosis + + + + - - - - + ↑ ↑ - - - - - - Serology, PCR
Syphilis and Jarisch-Herxheimer reaction + + + + - - - + +
  • ALT↑ (Uncommon)
  • AST↑ (Uncommon)
 ↑ ↑ - - - - - - Serology, PCR
Toxoplasmosis + + - + - - - + + - - - - - - Serology, PCR

Neoplasia

 Malignant lymphoma + + - +/- +/- + + - + ↑ ↑ - - - - - - CT, PET/CT, Bone marrow examination, lymph node biopsy
Multicentric Castleman disease + + - - + - + + - + - ↑ ↑ - - - - - - Lymph node biopsy
Angioimmunoblastic T cell lymphoma + + - - - + - - + ↑ ↑ - - - - - - Lymph node biopsy

Drug hypersensitivity

 Drug reaction with eosinophilia and systemic symptoms + + + + +/- - + - - - ↑ ↑ - - - - - - Eosinophil count, skin biopsy
Autoimmune conditions Systemic lupus erythematosus + + + +/- + + + - +/- ↑ ↑ + + - + - - Antinuclear autoantibodies
Inflammatory myositis + + - + (weakness > pain) -
  • Macular red rash over the back of the fingers, elbows or knees (Grotton's sign)
  • Macular purpish or reddish rash on the upper chest or back  (Shawl-like, heliotrope rash)
 - - - +/- - ↑ ↑ +/- +/- - - + - Idem, muscle biopsy
Rheumatoid arthritis + + + - + - + - + - ↑ ↑ +/- +/- - - - - Anti-citrullinated peptids autoantibodies, rheumatoid factor
Systemic vasculitides + + + - + - +/- - +/- - ↑ ↑ - - +/- - - + ANCA, tissue biopsy, arteriography
Familial Mediterranean fever + + + + + + + (due to pain) - +/- - ↑ ↑ - - - - - - Familial history, MEFV gene analysis
Mevalonate kinase deficiency + + + + - + - + + - ↑ ↑ - - - - - - Urinary mevalonic acid, mevalonate kinase analysis
Reactive arthritis + + + - - - + (Aortic insufficiency) - + - ↑ ↑ - - - - - - HLA B27, magnetic resonance imaging

Miscellaneous

 Sarcoidosis + + + - + + + - +
  • Normal ALT, AST
  • ALP ↑ (infiltrative pattern)
 ↑ ↑ - - - - - -
  • Lymph node/Lung biopsy
  • ACE levels
  • FDG-PET

Less common differentials

FMF must be differentiated from other causes of secondary peritonitis

Differentiating FMF from other causes of peritonitis
Disease Prominent clinical findings Lab tests Tratment
Primary peritonitis Spontaneous bacterial peritonitis
Tuberculous peritonitis
Continuous Ambulatory Peritoneal Dialysis (CAPD peritonitis)
Secondary peritonitis Acute bacterial secondary peritonitis
Biliary peritonitis
Tertiary peritonitis
Familial Mediterranean fever (periodic peritonitis, familial paroxysmal polyserositis)
  • Colchicine prevents but does not treat acute attacks.
Granulomatous peritonitis
  • Diagnosed by the demonstration of diagnostic Maltese cross pattern of starch particles.
Sclerosing encapsulating peritonitis
Intraperitoneal abscesses
  • Diagnosed best by CT scan of the abdomen.
  • Treatment consists of prompt and complete CT or US guided drainage of the abscess, control of the primary cause, and adjunctive use of effective antibiotics. Open drainage is reserved for abscesses for which percutaneous drainage is inappropriate or unsuccessful.
Peritoneal mesothelioma
peritoneal carcinomatosis
Classification of acute abdomen based on etiology Presentation Symptoms Signs Diagnosis Comments
Fever Abdominal Pain Jaundice Guarding Rebound Tenderness Bowel sounds Lab Findings Imaging
Common causes of Peritonitis Primary Peritonitis Spontaneous bacterial peritonitis + Diffuse - - - Hypoactive
  • Ascitic fluid PMN>250 cells/mm³
  • Culture: Positive for single organism
 Ultrasound for evaluation of liver cirrhosis -
Secondary Peritonitis Perforated gastric and duodenal ulcer + Diffuse - + + N
    • Glucose < 50mg/dl
    • Total protein > 1g/dl
 Air under diaphragm in upright CXR Upper GI endoscopy for diagnosis
Acute cholangitis + RUQ + - - N Abnormal LFT Ultrasound shows biliary dilatation Biliary drainage (ERCP) + IV antibiotics
Acute cholecystitis + RUQ + - - Hypoactive Ultrasound shows gallstone and evidence of inflammation Murphy’s sign
Acute pancreatitis + Epigastric +/- - - N Increased amylase / lipase Ultrasound shows evidence of inflammation Pain radiation to back
Acute appendicitis + RLQ - + + Hypoactive Leukocytosis Ultrasound shows evidence of inflammation Nausea & vomiting, decreased appetite
Acute diverticulitis + LLQ +/- + - Hypoactive Leukocytosis CT scan and ultrasound shows evidence of inflammation
Acute salpingitis + LLQ/ RLQ - +/- +/- N Leukocytosis Pelvic ultrasound Vaginal discharge
Hollow Viscous Obstruction Small intestine obstruction - Diffuse - + +/- Hyperactive then absent Leukocytosis Abdominal X ray Nausea & vomiting associated with constipation, abdominal distention
Volvulus - Diffuse - + - Hypoactive Leukocytosis CT scan and abdominal X ray Nausea & vomiting associated with constipation, abdominal distention
Biliary colic - RUQ + - - N Increased bilirubin and alkaline phosphatase Ultrasound Nausea & vomiting
Renal colic - Flank pain - - - N Hematuria CT scan and ultrasound Colicky abdominal pain associated with nausea & vomiting
Vascular Disorders Ischemic causes Mesenteric ischemia +/- Periumbilical - - - Hyperactive Leukocytosis and lactic acidosis CT scan Nausea & vomiting, normal physical examination
Acute ischemic colitis +/- Diffuse - + + Hyperactive then absent Leukocytosis CT scan Nausea & vomiting
Hemorrhagic causes Ruptured abdominal aortic aneurysm - Diffuse - - - N Normal CT scan Unstable hemodynamics
Intra-abdominal or retroperitoneal hemorrhage - Diffuse - - - N Anemia CT scan History of trauma
Gynaecological Causes Ovarian Cyst Complications Torsion of the cyst - RLQ / LLQ - +/- +/- N Increased ESR and CRP Ultrasound Sudden onset sever pain with nausea and vomiting
Cyst rupture - RLQ / LLQ - +/- +/- N Increased ESR and CRP Ultrasound Sudden onset sever pain with nausea and vomiting
Pregnancy Ruptured ectopic pregnancy - RLQ / LLQ - - - N Positive pregnancy test Ultrasound History of missed period and vaginal bleeding

References

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  2. ↑ Gøransson LG, Omdal R, Husby G (March 1992). "[Adult-onset Still's disease. Diagnosis, differential diagnosis and treatment]". Tidsskr. Nor. Laegeforen. (in Norwegian). 112 (9): 1155–5. PMID 1579936.
  3. ↑ Hatakka A, Klein J, He R, Piper J, Tam E, Walkty A (September 2011). "Acute hepatitis as a manifestation of parvovirus B19 infection". J. Clin. Microbiol. 49 (9): 3422–4. doi:10.1128/JCM.00575-11. PMC 3165617. PMID 21734024.
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  6. ↑ "watermark.silverchair.com" (PDF).
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  22. ↑ Papadavid E, Panayiotides I, Dalamaga M, Katoulis A, Economopoulos T, Stavrianeas N (2010). "Cutaneous involvement in angioimmunoblastic T-cell lymphoma". Indian J Dermatol. 55 (3): 279–80. doi:10.4103/0019-5154.70704. PMC 2965920. PMID 21063526.
  23. ↑ Brockow K, Przybilla B, Aberer W, Bircher AJ, Brehler R, Dickel H, Fuchs T, Jakob T, Lange L, Pfützner W, Mockenhaupt M, Ott H, Pfaar O, Ring J, Sachs B, Sitter H, Trautmann A, Treudler R, Wedi B, Worm M, Wurpts G, Zuberbier T, Merk HF (2015). "Guideline for the diagnosis of drug hypersensitivity reactions: S2K-Guideline of the German Society for Allergology and Clinical Immunology (DGAKI) and the German Dermatological Society (DDG) in collaboration with the Association of German Allergologists (AeDA), the German Society for Pediatric Allergology and Environmental Medicine (GPA), the German Contact Dermatitis Research Group (DKG), the Swiss Society for Allergy and Immunology (SGAI), the Austrian Society for Allergology and Immunology (ÖGAI), the German Academy of Allergology and Environmental Medicine (DAAU), the German Center for Documentation of Severe Skin Reactions and the German Federal Institute for Drugs and Medical Products (BfArM)". Allergo J Int. 24 (3): 94–105. doi:10.1007/s40629-015-0052-6. PMC 4479479. PMID 26120552.
  24. ↑ Medlej-Hashim M, Loiselet J, Lefranc G, Mégarbané A (2004). "[Familial Mediterranean Fever (FMF): from diagnosis to treatment]". Sante (in French). 14 (4): 261–6. PMID 15745878.
  25. ↑ Zhang S (May 2016). "Natural history of mevalonate kinase deficiency: a literature review". Pediatr Rheumatol Online J. 14 (1): 30. doi:10.1186/s12969-016-0091-7. PMC 4855321. PMID 27142780.
  26. ↑ M. Medlej-Hashim, I. Petit, S. Adib, E. Chouery, N. Salem, V. Delague, M. Rawashdeh, I. Mansour, G. Lefranc, R. Naman, J. Loiselet, J. C. Lecron, J. L. Serre & A. Megarbane (2001). "Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations". European journal of human genetics : EJHG. 9 (11): 849–854. doi:10.1038/sj.ejhg.5200725. PMID 11781702. Unknown parameter |month= ignored (help)
  27. ↑ 27.0 27.1 27.2 27.3 Kastner, D. L. (2005). "Hereditary Periodic Fever Syndromes". Hematology. 2005 (1): 74–81. doi:10.1182/asheducation-2005.1.74. ISSN 1520-4391.
  28. ↑ Kraus, Courtney L; Culican, Susan M (2009). "Nummular keratopathy in a patient with Hyper-IgD Syndrome". Pediatric Rheumatology. 7 (1). doi:10.1186/1546-0096-7-14. ISSN 1546-0096.
  29. ↑ Mulders-Manders, C. M.; Simon, A. (2015). "Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?". Seminars in Immunopathology. 37 (4): 371–376. doi:10.1007/s00281-015-0492-6. ISSN 1863-2297.
  30. ↑ Toro, Jorge R.; Aksentijevich, Ivona; Hull, Keith; Dean, Jane; Kastner, Daniel L. (2000). "Tumor Necrosis Factor Receptor–Associated Periodic Syndrome". Archives of Dermatology. 136 (12). doi:10.1001/archderm.136.12.1487. ISSN 0003-987X.
  31. ↑ Lachmann, H J; Papa, R; Gerhold, K; Obici, L; Touitou, I; Cantarini, L; Frenkel, J; Anton, J; Kone-Paut, I; Cattalini, M; Bader-Meunier, B; Insalaco, A; Hentgen, V; Merino, R; Modesto, C; Toplak, N; Berendes, R; Ozen, S; Cimaz, R; Jansson, A; Brogan, P A; Hawkins, P N; Ruperto, N; Martini, A; Woo, P; Gattorno, M (2014). "The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry". Annals of the Rheumatic Diseases. 73 (12): 2160–2167. doi:10.1136/annrheumdis-2013-204184. ISSN 0003-4967.
  32. ↑ Hawkins, Philip N.; Lachmann, Helen J.; Aganna, Ebun; McDermott, Michael F. (2004). "Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra". Arthritis & Rheumatism. 50 (2): 607–612. doi:10.1002/art.20033. ISSN 0004-3591.
  33. ↑ Ahmadi, Neda; Brewer, Carmen C.; Zalewski, Christopher; King, Kelly A.; Butman, John A.; Plass, Nicole; Henderson, Cailin; Goldbach-Mansky, Raphaela; Kim, H. Jeffrey (2011). "Cryopyrin-Associated Periodic Syndromes". Otolaryngology–Head and Neck Surgery. 145 (2): 295–302. doi:10.1177/0194599811402296. ISSN 0194-5998.
  34. ↑ Stych, Beate; Dobrovolny, Diana (2008). "Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients' lives". Current Medical Research and Opinion. 24 (6): 1577–1582. doi:10.1185/03007990802081543. ISSN 0300-7995.
  35. ↑ Goldbach-Mansky, Raphaela; Dailey, Natalie J.; Canna, Scott W.; Gelabert, Ana; Jones, Janet; Rubin, Benjamin I.; Kim, H. Jeffrey; Brewer, Carmen; Zalewski, Christopher; Wiggs, Edythe; Hill, Suvimol; Turner, Maria L.; Karp, Barbara I.; Aksentijevich, Ivona; Pucino, Frank; Penzak, Scott R.; Haverkamp, Margje H.; Stein, Leonard; Adams, Barbara S.; Moore, Terry L.; Fuhlbrigge, Robert C.; Shaham, Bracha; Jarvis, James N.; O'Neil, Kathleen; Vehe, Richard K.; Beitz, Laurie O.; Gardner, Gregory; Hannan, William P.; Warren, Robert W.; Horn, William; Cole, Joe L.; Paul, Scott M.; Hawkins, Philip N.; Pham, Tuyet Hang; Snyder, Christopher; Wesley, Robert A.; Hoffmann, Steven C.; Holland, Steven M.; Butman, John A.; Kastner, Daniel L. (2006). "Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition". New England Journal of Medicine. 355 (6): 581–592. doi:10.1056/NEJMoa055137. ISSN 0028-4793.
  36. ↑ Kim, Hanna; Montealegre Sanchez, Gina A.; Chapelle, Dawn C.; Plass, Nicole; Dwyer, Andrew; Goldbach-Mansky, Raphaela; Hill, Suvimol (2014). "A80: Skeletal Features of Neonatal-Onset Multisystem Inflammatory Disease (NOMID) on Anakinra Treatment: Long-Term Follow-up". Arthritis & Rheumatology. 66: S113–S113. doi:10.1002/art.38496. ISSN 2326-5191.
  37. ↑ Yeon, Howard B.; Lindor, Noralane M.; Seidman, J.G.; Seidman, Christine E. (2000). "Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q". The American Journal of Human Genetics. 66 (4): 1443–1448. doi:10.1086/302866. ISSN 0002-9297.
  38. ↑ Schellevis, M. A.; Stoffels, M.; Hoppenreijs, E. P. A. H.; Bodar, E.; Simon, A.; van der Meer, J. W. M. (2011). "Variable expression and treatment of PAPA syndrome". Annals of the Rheumatic Diseases. 70 (6): 1168–1170. doi:10.1136/ard.2009.126185. ISSN 0003-4967.
  39. ↑ Vanoni, Federica; Federici, Silvia; Antón, Jordi; Barron, Karyl S.; Brogan, Paul; De Benedetti, Fabrizio; Dedeoglu, Fatma; Demirkaya, Erkan; Hentgen, Veronique; Kallinich, Tilmann; Laxer, Ronald; Russo, Ricardo; Toplak, Natasa; Uziel, Yosef; Martini, Alberto; Ruperto, Nicolino; Gattorno, Marco; Hofer, Michael (2018). "An international delphi survey for the definition of the variables for the development of new classification criteria for periodic fever aphtous stomatitis pharingitis cervical adenitis (PFAPA)". Pediatric Rheumatology. 16 (1). doi:10.1186/s12969-018-0246-9. ISSN 1546-0096.
  40. ↑ Cattalini, Marco; Soliani, Martina; Rigante, Donato; Lopalco, Giuseppe; Iannone, Florenzo; Galeazzi, Mauro; Cantarini, Luca (2015). "Basic Characteristics of Adults with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of Disease". Mediators of Inflammation. 2015: 1–11. doi:10.1155/2015/570418. ISSN 0962-9351.
  41. ↑ Gattorno, M.; Caorsi, R.; Meini, A.; Cattalini, M.; Federici, S.; Zulian, F.; Cortis, E.; Calcagno, G.; Tommasini, A.; Consolini, R.; Simonini, G.; Pelagatti, M. A.; Baldi, M.; Ceccherini, I.; Plebani, A.; Frenkel, J.; Sormani, M. P.; Martini, A. (2009). "Differentiating PFAPA Syndrome From Monogenic Periodic Fevers". PEDIATRICS. 124 (4): e721–e728. doi:10.1542/peds.2009-0088. ISSN 0031-4005.
  42. ↑ Rosé, Carlos D.; Aróstegui, Juan I.; Martin, Tammy M.; Espada, Graciela; Scalzi, Lisabeth; Yagüe, Jordi; Rosenbaum, James T.; Modesto, Consuelo; Cristina Arnal, Maria; Merino, Rosa; García-Consuegra, Julia; Carballo Silva, María Antonia; Wouters, Carine H. (2009). "NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain". Arthritis & Rheumatism. 60 (6): 1797–1803. doi:10.1002/art.24533. ISSN 0004-3591.
  43. ↑ Kim, Woojoong; Park, Eujin; Ahn, Yo Han; Lee, Jiwon M.; Kang, Hee Gyung; Kim, Byung Joo; Ha, Il-Soo; Cheong, Hae Il (2016). "A familial case of Blau syndrome caused by a novelNOD2genetic mutation". Korean Journal of Pediatrics. 59 (Suppl 1): S5. doi:10.3345/kjp.2016.59.11.S5. ISSN 1738-1061.
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