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{{SI}}
{{SI}}
{{CMG}}; {{AE}} {{Sahar}}<br>
{{CMG}}; {{AE}} {{Sahar}}<br>
{{SK}} Pediatric Granulomatous Arthritis (PGA), Juvenile Systemic Granulomatosis, Early Onset Sarcoidosis, Jabs Syndrome, NOD2-associated disease-Blau  
{{SK}} [[Pediatric Granulomatous Arthritis]] ([[Pediatric Granulomatous Arthritis|PGA]]), [[Juvenile Systemic Granulomatosis]], [[Early Onset Sarcoidosis]], [[Jabs Syndrome]], [[NOD2-associated disease-Blau]]
{| align="right"
{| align="right"
|[[File:Blau syndrome2.jpg|thumb|none|300px|Coarse facial features in a boy with Blau syndrome, Image courtesy of Donald A Glass II MD, PhD, Jennifer Maender MD, Denise Metry M]]
|[[File:Blau syndrome2.jpg|thumb|none|300px|Coarse facial features in a boy with Blau syndrome, Image courtesy of Donald A Glass II MD, PhD, Jennifer Maender MD, Denise Metry M]]
|}
|}
==Overview==
==Overview==
'''Blau syndrome''' is characterized by familial granulomatous arthritis, iritis, and skin granulomas, comprising an [[autosomal dominant|autosomal dominantly]] inherited syndrome that overlaps both sarcoidosis and granuloma annulare.<ref name="Fitz2">Freedberg, et. al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0071380760.</ref>{{rp|983}}<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0721629210.</ref>{{rp|149}}  Restated, Blau syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies and exanthema.<ref name="pmid17223962">{{cite journal |author=Ferrero-Miliani L, Nielsen OH, Andersen PS, Girardin SE |title=Chronic inflammation: importance of NOD2 and NALP3 in interleukin-1beta generation |journal=Clin. Exp. Immunol. |volume=147 |issue=2 |pages=227–35 |year=2007 |month=February |pmid=17223962 |pmc=1810472 |doi=10.1111/j.1365-2249.2006.03261.x |url=}}</ref>{{rp|232}}
'''Blau syndrome''' is characterized by the [[Triad (anatomy)|triad]] of early-onset symmetric polyarticular [[synovitis]], [[skin rash]], and [[eye]] involvement with recurrent [[anterior uveitis]].
==Historical Perspective==
==Historical Perspective==
*Blau syndrome was first discovered by Dr. Edward B. Blau, in 1985 following observation of a four-generation family with a variety of [[symptoms]] including [[granulomatous]] [[arthritis]], [[iritis]], and [[skin rash]].<ref name="Blau1985">{{cite journal|last1=Blau|first1=Edward B.|title=Familial granulomatous arthritis, iritis, and rash|journal=The Journal of Pediatrics|volume=107|issue=5|year=1985|pages=689–693|issn=00223476|doi=10.1016/S0022-3476(85)80394-2}}</ref>
*Blau syndrome was first discovered by Dr. Edward B. Blau, in 1985 following observation of a four-generation family with a variety of [[symptoms]] including [[granulomatous]] [[arthritis]], [[iritis]], and [[skin rash]].<ref name="Blau1985">{{cite journal|last1=Blau|first1=Edward B.|title=Familial granulomatous arthritis, iritis, and rash|journal=The Journal of Pediatrics|volume=107|issue=5|year=1985|pages=689–693|issn=00223476|doi=10.1016/S0022-3476(85)80394-2}}</ref>
*Jabs Syndrome was introduced in the same year (1985) by Dr. A. Douglas Jabs following visiting patients with [[polyarthritis]], [[uveitis]], and [[cranial]] [[neuropathy]].<ref name="JabsHouk1985">{{cite journal|last1=Jabs|first1=Douglas A.|last2=Houk|first2=J.Lawrence|last3=Bias|first3=Wilma B.|last4=Arnett|first4=Frank C.|title=Familial granulomatous synovitis, uveitis, and cranial neuropathies|journal=The American Journal of Medicine|volume=78|issue=5|year=1985|pages=801–804|issn=00029343|doi=10.1016/0002-9343(85)90286-4}}</ref>
*Jabs Syndrome was introduced in the same year (1985) by Dr. A. Douglas Jabs following visiting [[Patient|patients]] with [[polyarthritis]], [[uveitis]], and [[cranial]] [[neuropathy]].<ref name="JabsHouk1985">{{cite journal|last1=Jabs|first1=Douglas A.|last2=Houk|first2=J.Lawrence|last3=Bias|first3=Wilma B.|last4=Arnett|first4=Frank C.|title=Familial granulomatous synovitis, uveitis, and cranial neuropathies|journal=The American Journal of Medicine|volume=78|issue=5|year=1985|pages=801–804|issn=00029343|doi=10.1016/0002-9343(85)90286-4}}</ref>
*In 19??, NOD2 mutations were first implicated in the [[pathogenesis]] of Blau syndrome.
*In 2001, [[NOD2]] [[mutations]] were first implicated in the [[pathogenesis]] of Blau syndrome.<ref name="Miceli-RichardLesage2001">{{cite journal|last1=Miceli-Richard|first1=Corinne|last2=Lesage|first2=Suzanne|last3=Rybojad|first3=Michel|last4=Prieur|first4=Anne-Marie|last5=Manouvrier-Hanu|first5=Sylvie|last6=Häfner|first6=Renate|last7=Chamaillard|first7=Mathias|last8=Zouali|first8=Habib|last9=Thomas|first9=Gilles|last10=Hugot|first10=Jean-Pierre|title=CARD15 mutations in Blau syndrome|journal=Nature Genetics|volume=29|issue=1|year=2001|pages=19–20|issn=1061-4036|doi=10.1038/ng720}}</ref>


==Classification==
==Classification==
*There is no established system for the [[classification]] of Blau syndrome.
*There is no established system for the [[classification]] of Blau syndrome.
==Pathophysiology==
==Pathophysiology==
*The exact [[pathogenesis]] of Blau syndrome is not fully understood. However, it is caused by a [[mutation]] in the [[NOD2]] [[gene]].
 
*The exact [[pathogenesis]] of Blau syndrome is not fully understood. However, it is [[Causes|caused]] by a NATCH domain of the [[NOD2]] / [[CARD15]] [[gene]].<ref name="Miceli-RichardLesage2001">{{cite journal|last1=Miceli-Richard|first1=Corinne|last2=Lesage|first2=Suzanne|last3=Rybojad|first3=Michel|last4=Prieur|first4=Anne-Marie|last5=Manouvrier-Hanu|first5=Sylvie|last6=Häfner|first6=Renate|last7=Chamaillard|first7=Mathias|last8=Zouali|first8=Habib|last9=Thomas|first9=Gilles|last10=Hugot|first10=Jean-Pierre|title=CARD15 mutations in Blau syndrome|journal=Nature Genetics|volume=29|issue=1|year=2001|pages=19–20|issn=1061-4036|doi=10.1038/ng720}}</ref>
*The [[disease]] is inherited in an [[autosomal dominant]] mode.
*The [[disease]] is inherited in an [[autosomal dominant]] mode.
*This gene encodes a [[protein]] called xxxx, involving in the ....
*This [[gene]] encodes a [[protein]] involving in the [[immune system]].<ref name="OguraInohara2001">{{cite journal|last1=Ogura|first1=Yasunori|last2=Inohara|first2=Naohiro|last3=Benito|first3=Adalberto|last4=Chen|first4=Felicia F.|last5=Yamaoka|first5=Shoji|last6=Núñez|first6=Gabriel|title=Nod2, a Nod1/Apaf-1 Family Member That Is Restricted to Monocytes and Activates NF-κB|journal=Journal of Biological Chemistry|volume=276|issue=7|year=2001|pages=4812–4818|issn=0021-9258|doi=10.1074/jbc.M008072200}}</ref>
*NOD2 mutation leads to overactivation of xxxxx which may trigger an exaggerated inflammatory response.  
*[[NOD2]] [[mutation]] leads to over activation of [[NF-kB]] which may explain an exaggerated [[inflammatory response]] observed in these [[patients]].
 
==Causes==
==Causes==
*Blau syndrome may be [[Causes|caused]] by a mutation in the NOD2 gene.
 
*Blau syndrome may be [[Causes|caused]] by a [[mutation]] in the [[NOD2]] [[gene]].<ref name="Miceli-RichardLesage2001">{{cite journal|last1=Miceli-Richard|first1=Corinne|last2=Lesage|first2=Suzanne|last3=Rybojad|first3=Michel|last4=Prieur|first4=Anne-Marie|last5=Manouvrier-Hanu|first5=Sylvie|last6=Häfner|first6=Renate|last7=Chamaillard|first7=Mathias|last8=Zouali|first8=Habib|last9=Thomas|first9=Gilles|last10=Hugot|first10=Jean-Pierre|title=CARD15 mutations in Blau syndrome|journal=Nature Genetics|volume=29|issue=1|year=2001|pages=19–20|issn=1061-4036|doi=10.1038/ng720}}</ref>
 
==Differentiating Blau syndrome from Other Diseases==
==Differentiating Blau syndrome from Other Diseases==
*Blau syndrome must be differentiated from other [[diseases]] that cause [[arthritis]], [[skin rash]], and [[ophthalmological]] involvement, such as Neonatal onset multisystem inflammatory disease (NOMID), [[cryopyrin-associated periodic syndrome]] ([[CAPS]]), and [[familial mediterranean fever]].
*Blau syndrome must be differentiated from other [[diseases]] that cause [[arthritis]], [[skin rash]], and [[ophthalmological]] involvement, such as Neonatal onset multisystem inflammatory disease (NOMID), [[cryopyrin-associated periodic syndrome]] ([[CAPS]]), and [[familial mediterranean fever]].
*For more information please click here.
*For more information on the [[differential diagnosis]] of Blau syndrome please [[Familial mediterranean fever differential diagnosis|click here]].
 
==Epidemiology and Demographics==
==Epidemiology and Demographics==
*There is no available data on the [[prevalence]] and [[incidence]] of Blau syndrome.
 
*The [[prevalence]] of Blau syndrome has been reported less than 0.1 per 100,000 individuals worldwide.<ref name="Yi YongMukhtyar2018">{{cite journal|last1=Yi Yong|first1=Cee|last2=Mukhtyar|first2=Chetan|last3=Armon|first3=Kate|title=65. Blau syndrome treated with sequential biologics|journal=Rheumatology Advances in Practice|volume=2|issue=suppl_1|year=2018|issn=2514-1775|doi=10.1093/rap/rky034.028}}</ref>
*Blau syndrome commonly affects individuals younger than 4 years of age.
*Blau syndrome commonly affects individuals younger than 4 years of age.
*There is no [[racial]] predilection to Blau syndrome.
*There is no [[racial]] predilection to Blau syndrome.
*Blau syndrome affects men and women equally.
*Blau syndrome affects men and women equally.
==Risk Factors==
==Risk Factors==
*There are no established [[risk factors]] for Blau syndrome.
*There are no established [[risk factors]] for Blau syndrome.
==Screening==
==Screening==
There is insufficient evidence to recommend routine [[screening]] for Blau syndrome.
==Natural History, Complications, and Prognosis==
*If left untreated, patients with Blau syndrome may progress to develop [[blindness]], [[vasculitis]], and [[joint]] [[deformities]].
*Other possible [[complications]] include:
**[[Arterial hypertension]]
**[[Pulmonary embolism]]
**
*Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
==Diagnosis==
===Diagnostic Study of Choice===
The diagnosis of Blau syndrome is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].


OR
*There is insufficient evidence to recommend routine [[screening]] for Blau syndrome.


The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
==Natural History, Complications, and Prognosis==


OR
*If left untreated, [[patients]] with Blau syndrome may progress to develop [[blindness]], [[vasculitis]], and [[joint]] [[deformities]].<ref name="RoséAróstegui2009">{{cite journal|last1=Rosé|first1=Carlos D.|last2=Aróstegui|first2=Juan I.|last3=Martin|first3=Tammy M.|last4=Espada|first4=Graciela|last5=Scalzi|first5=Lisabeth|last6=Yagüe|first6=Jordi|last7=Rosenbaum|first7=James T.|last8=Modesto|first8=Consuelo|last9=Cristina Arnal|first9=Maria|last10=Merino|first10=Rosa|last11=García-Consuegra|first11=Julia|last12=Carballo Silva|first12=María Antonia|last13=Wouters|first13=Carine H.|title=NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain|journal=Arthritis & Rheumatism|volume=60|issue=6|year=2009|pages=1797–1803|issn=00043591|doi=10.1002/art.24533}}</ref><ref name="pmid20040255">{{cite journal |vauthors=Glass DA, Maender J, Metry D |title=Two pediatric cases of Blau syndrome |journal=Dermatol. Online J. |volume=15 |issue=12 |pages=5 |date=December 2009 |pmid=20040255 |doi= |url=}}</ref><ref name="KhubchandaniHasija2012">{{cite journal|last1=Khubchandani|first1=Raju P.|last2=Hasija|first2=Rachana|last3=Touitou|first3=Isabelle|last4=Khemani|first4=Chetna|last5=Wouters|first5=Carine H.|last6=Rose|first6=Carlos D.|title=Blau Arteritis Resembling Takayasu Disease with a Novel NOD2 Mutation|journal=The Journal of Rheumatology|volume=39|issue=9|year=2012|pages=1888–1892|issn=0315-162X|doi=10.3899/jrheum.120156}}</ref><ref name="IkedaKambe2014">{{cite journal|last1=Ikeda|first1=Kei|last2=Kambe|first2=Naotomo|last3=Takei|first3=Syuji|last4=Nakano|first4=Taiji|last5=Inoue|first5=Yuzaburo|last6=Tomiita|first6=Minako|last7=Oyake|first7=Natsuko|last8=Satoh|first8=Takashi|last9=Yamatou|first9=Tsuyoshi|last10=Kubota|first10=Tomohiro|last11=Okafuji|first11=Ikuo|last12=Kanazawa|first12=Nobuo|last13=Nishikomori|first13=Ryuta|last14=Shimojo|first14=Naoki|last15=Matsue|first15=Hiroyuki|last16=Nakajima|first16=Hiroshi|title=Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome|journal=Arthritis Research & Therapy|volume=16|issue=2|year=2014|pages=R89|issn=1478-6354|doi=10.1186/ar4533}}</ref>
*Other possible [[complications]] include [[arterial hypertension]], [[pulmonary embolism]], and [[arthritis]].
*[[Prognosis]] is generally poor if left untreated.


The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
==Diagnosis==
===Diagnostic Study of Choice===


OR
*There are no established criteria for the [[diagnosis]] of Blau syndrome. However, it usually manifests with a triad consist of symmetric early-onset of polyarticular [[synovitis]], [[skin rash]], and eye involvement with recurrent [[anterior uveitis]].<ref name="ImayoshiOgata2018">{{cite journal|last1=Imayoshi|first1=Miyoko|last2=Ogata|first2=Yoshiyasu|last3=Yamamoto|first3=Shuichi|title=A Case of Sporadic Blau Syndrome with an Uncommon Clinical Course|journal=Case Reports in Rheumatology|volume=2018|year=2018|pages=1–5|issn=2090-6889|doi=10.1155/2018/6292308}}</ref>
*It is notable that some [[patients]] may present with [[signs]]/[[symptoms]] other than the aforementioned, which make the clinical [[diagnosis]] more challenging. Therefore, the [[genetic analysis]] is the [[diagnostic]] study of choice for Blau syndrome.


There are no established criteria for the diagnosis of Blau syndrome.
===History and Symptoms===
===History and Symptoms===
*Blau syndrome first presents with a scaly [[rash]] often by 4 months of age. [[Fever]], [[arthritis]], [[abdominal pain]], and other [[Symptom|symptoms]] may present later by 4 years of age.<ref name="RoséAróstegui2009">{{cite journal|last1=Rosé|first1=Carlos D.|last2=Aróstegui|first2=Juan I.|last3=Martin|first3=Tammy M.|last4=Espada|first4=Graciela|last5=Scalzi|first5=Lisabeth|last6=Yagüe|first6=Jordi|last7=Rosenbaum|first7=James T.|last8=Modesto|first8=Consuelo|last9=Cristina Arnal|first9=Maria|last10=Merino|first10=Rosa|last11=García-Consuegra|first11=Julia|last12=Carballo Silva|first12=María Antonia|last13=Wouters|first13=Carine H.|title=NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain|journal=Arthritis & Rheumatism|volume=60|issue=6|year=2009|pages=1797–1803|issn=00043591|doi=10.1002/art.24533}}</ref>
 
*Blau syndrome first presents with a scaly [[rash]] often by 4 months of age. [[Fever]], [[arthritis]], [[abdominal pain]], and other [[Symptom|symptoms]] may present later by 4 years of age.<ref name="RoséAróstegui2009">{{cite journal|last1=Rosé|first1=Carlos D.|last2=Aróstegui|first2=Juan I.|last3=Martin|first3=Tammy M.|last4=Espada|first4=Graciela|last5=Scalzi|first5=Lisabeth|last6=Yagüe|first6=Jordi|last7=Rosenbaum|first7=James T.|last8=Modesto|first8=Consuelo|last9=Cristina Arnal|first9=Maria|last10=Merino|first10=Rosa|last11=García-Consuegra|first11=Julia|last12=Carballo Silva|first12=María Antonia|last13=Wouters|first13=Carine H.|title=NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain|journal=Arthritis & Rheumatism|volume=60|issue=6|year=2009|pages=1797–1803|issn=00043591|doi=10.1002/art.24533}}</ref><ref name="IkedaKambe2014">{{cite journal|last1=Ikeda|first1=Kei|last2=Kambe|first2=Naotomo|last3=Takei|first3=Syuji|last4=Nakano|first4=Taiji|last5=Inoue|first5=Yuzaburo|last6=Tomiita|first6=Minako|last7=Oyake|first7=Natsuko|last8=Satoh|first8=Takashi|last9=Yamatou|first9=Tsuyoshi|last10=Kubota|first10=Tomohiro|last11=Okafuji|first11=Ikuo|last12=Kanazawa|first12=Nobuo|last13=Nishikomori|first13=Ryuta|last14=Shimojo|first14=Naoki|last15=Matsue|first15=Hiroyuki|last16=Nakajima|first16=Hiroshi|title=Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome|journal=Arthritis Research & Therapy|volume=16|issue=2|year=2014|pages=R89|issn=1478-6354|doi=10.1186/ar4533}}</ref>
*[[Rash]] spread follows a cephalocaudal order. It first appears on the face and then affects the [[trunk]].
*[[Rash]] spread follows a cephalocaudal order. It first appears on the face and then affects the [[trunk]].
*[[Arthritis]] usually affects [[Wrist|wrists]], [[knees]], and [[Ankle|ankles]] and tends to be symmetrical and [[chronic]].
*[[Arthritis]] usually affects [[Wrist|wrists]], [[knees]], and [[Ankle|ankles]] and tends to be symmetrical and [[chronic]].
===Physical Examination===
===Physical Examination===
{| align="right"
{| align="right"
|[[File:Blau syndrome.jpg|thumb|none|300px|Multiple, reddish-brown papules coalescing over the right arm in a boy with Blau syndrome, Image courtesy of Donald A Glass II MD, PhD, Jennifer Maender MD, Denise Metry M]]
|[[File:Blau syndrome.jpg|thumb|none|300px|Multiple, reddish-brown papules coalescing over the right arm in a boy with Blau syndrome, Image courtesy of Donald A Glass II MD, PhD, Jennifer Maender MD, Denise Metry M]]
|}
|}
*Common physical examination findings of Blau syndrome include [[fever]], scaly [[rash]], and [[arthritis]].
 
*Other possible findings include:
*Common [[physical examination]] findings of Blau syndrome include [[fever]], scaly [[rash]], and [[arthritis]].<ref name="RoséAróstegui2009">{{cite journal|last1=Rosé|first1=Carlos D.|last2=Aróstegui|first2=Juan I.|last3=Martin|first3=Tammy M.|last4=Espada|first4=Graciela|last5=Scalzi|first5=Lisabeth|last6=Yagüe|first6=Jordi|last7=Rosenbaum|first7=James T.|last8=Modesto|first8=Consuelo|last9=Cristina Arnal|first9=Maria|last10=Merino|first10=Rosa|last11=García-Consuegra|first11=Julia|last12=Carballo Silva|first12=María Antonia|last13=Wouters|first13=Carine H.|title=NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain|journal=Arthritis & Rheumatism|volume=60|issue=6|year=2009|pages=1797–1803|issn=00043591|doi=10.1002/art.24533}}</ref>
**[[Cranial nerve]] involvement
*Other possible findings include [[cranial nerve]] involvement, [[lymphadenopathy]], [[hepatosplenomegaly]], [[uveitis]], [[conjunctivitis]], [[cataracts]], and [[panniculitis]]
**[[Lymphadenopathy]]
**[[Hepatosplenomegaly]]
**[[Uveitis]]
**[[Conjunctivitis]]


===Laboratory Findings===
===Laboratory Findings===
*An elevated [[concentration]] of serum [[Acute phase reactant|acute phase reactants]] is [[diagnostic]] of Blau syndrome.
 
*Common [[laboratory]] findings of Blau syndrome include elevated [[acute phase reactant]] levels, [[hypercalcemia]] and [[hypercalciuria]], elevated [[angiotensin converting enzyme]] ([[ACE]]) level, elevated [[immunoglobulins]], [[leukopenia]] and [[eosinophilia]], [[hematuria]], [[proteinuria]], [[pyuria]], and [[Liver function tests abnormality|Abnormal liver function tests]].<ref name="pmid20040255">{{cite journal |vauthors=Glass DA, Maender J, Metry D |title=Two pediatric cases of Blau syndrome |journal=Dermatol. Online J. |volume=15 |issue=12 |pages=5 |date=December 2009 |pmid=20040255 |doi= |url=}}</ref>
 
===Electrocardiogram===
===Electrocardiogram===
*There are no [[ECG]] findings associated with Blau syndrome.
 
*There are no [[ECG]] findings associated with Blau syndrome. However, [[pericarditis]] may be one of the possible [[complication]] of Blau syndrome.<ref name="RoséAróstegui2009">{{cite journal|last1=Rosé|first1=Carlos D.|last2=Aróstegui|first2=Juan I.|last3=Martin|first3=Tammy M.|last4=Espada|first4=Graciela|last5=Scalzi|first5=Lisabeth|last6=Yagüe|first6=Jordi|last7=Rosenbaum|first7=James T.|last8=Modesto|first8=Consuelo|last9=Cristina Arnal|first9=Maria|last10=Merino|first10=Rosa|last11=García-Consuegra|first11=Julia|last12=Carballo Silva|first12=María Antonia|last13=Wouters|first13=Carine H.|title=NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain|journal=Arthritis & Rheumatism|volume=60|issue=6|year=2009|pages=1797–1803|issn=00043591|doi=10.1002/art.24533}}</ref>
*For more information on [[ECG]] finding of [[pericarditis]] please [[Pericarditis electrocardiogram|click here]]
 
===X-ray===
===X-ray===
*There are no [[x-ray]] findings associated with Blau syndrome.
 
*There are no [[x-ray]] findings associated with Blau syndrome. However, an [[x-ray]] may be helpful in the evaluation of [[arthritis]] associated with Blau syndrome, which may indicate findings such as [[camptodactyly]] ([[flexion]] [[contracture]] in [[Proximal interphalangeal joints|PIP]] [[joints]]), [[carpal]] [[dysplasia]] with [[carpal]] crowding (changes in shape and position affecting [[bones]] in the proximal [[carpal]] row), abnormal distal radial [[epiphysis]] with a biconcave articular surface (prominent bony ridge is in contact with the scapholunate [[joint]]), abnormal shape of the distal [[ulna]] (plump [[ulna]]) as well as a short [[ulna]], and/or abnormal shape of the second [[Metacarpal bones|metacarpal bone]] (long small [[diaphysis]]).<ref name="RosePans2014">{{cite journal|last1=Rose|first1=C. D.|last2=Pans|first2=S.|last3=Casteels|first3=I.|last4=Anton|first4=J.|last5=Bader-Meunier|first5=B.|last6=Brissaud|first6=P.|last7=Cimaz|first7=R.|last8=Espada|first8=G.|last9=Fernandez-Martin|first9=J.|last10=Hachulla|first10=E.|last11=Harjacek|first11=M.|last12=Khubchandani|first12=R.|last13=Mackensen|first13=F.|last14=Merino|first14=R.|last15=Naranjo|first15=A.|last16=Oliveira-Knupp|first16=S.|last17=Pajot|first17=C.|last18=Russo|first18=R.|last19=Thomee|first19=C.|last20=Vastert|first20=S.|last21=Wulffraat|first21=N.|last22=Arostegui|first22=J. I.|last23=Foley|first23=K. P.|last24=Bertin|first24=J.|last25=Wouters|first25=C. H.|title=Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes|journal=Rheumatology|volume=54|issue=6|year=2014|pages=1008–1016|issn=1462-0324|doi=10.1093/rheumatology/keu437}}</ref>
 
===Echocardiography or Ultrasound===
===Echocardiography or Ultrasound===
*There are no [[echocardiography]]/[[ultrasound]] findings associated with Blau syndrome.
 
*There are no [[echocardiography]] findings associated with Blau syndrome. However, [[pericarditis]] may be one of the possible [[complication]] of Blau syndrome.<ref name="RoséAróstegui2009">{{cite journal|last1=Rosé|first1=Carlos D.|last2=Aróstegui|first2=Juan I.|last3=Martin|first3=Tammy M.|last4=Espada|first4=Graciela|last5=Scalzi|first5=Lisabeth|last6=Yagüe|first6=Jordi|last7=Rosenbaum|first7=James T.|last8=Modesto|first8=Consuelo|last9=Cristina Arnal|first9=Maria|last10=Merino|first10=Rosa|last11=García-Consuegra|first11=Julia|last12=Carballo Silva|first12=María Antonia|last13=Wouters|first13=Carine H.|title=NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain|journal=Arthritis & Rheumatism|volume=60|issue=6|year=2009|pages=1797–1803|issn=00043591|doi=10.1002/art.24533}}</ref>
*For more information on [[echocardiography]] finding of [[pericarditis]] please [[Pericarditis echocardiography|click here]]
 
===CT scan===
===CT scan===
*There are no [[CT scan]] findings associated with Blau syndrome.
 
*[[CT scan]] findings may be helpful in the diagnosis of conditions associated with Blau syndrome. It may indicate findings associated with [[pneumonitis]] such as:<ref name="RoséAróstegui2009">{{cite journal|last1=Rosé|first1=Carlos D.|last2=Aróstegui|first2=Juan I.|last3=Martin|first3=Tammy M.|last4=Espada|first4=Graciela|last5=Scalzi|first5=Lisabeth|last6=Yagüe|first6=Jordi|last7=Rosenbaum|first7=James T.|last8=Modesto|first8=Consuelo|last9=Cristina Arnal|first9=Maria|last10=Merino|first10=Rosa|last11=García-Consuegra|first11=Julia|last12=Carballo Silva|first12=María Antonia|last13=Wouters|first13=Carine H.|title=NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain|journal=Arthritis & Rheumatism|volume=60|issue=6|year=2009|pages=1797–1803|issn=00043591|doi=10.1002/art.24533}}</ref>
**Mild upper [[mediastinal]] [[adenopathy]]
**Several small areas of [[Ground glass opacification on CT|ground glass]] opacity
 
===MRI===
===MRI===
*There are no [[MRI]] findings associated with Blau syndrome.
*There are no [[MRI]] findings associated with Blau syndrome.
===Other Imaging Findings===
===Other Imaging Findings===
*There are no other [[imaging]] findings associated with Blau syndrome.
*There are no other [[imaging]] findings associated with Blau syndrome.
===Other Diagnostic Studies===
===Other Diagnostic Studies===
*There are no other [[diagnostic]] studies associated with Blau syndrome.
*There are no other [[diagnostic]] studies associated with Blau syndrome.
==Treatment==
==Treatment==
===Medical Therapy===
===Medical Therapy===
*There is no treatment for Blau syndrome; the mainstay of therapy is supportive care.
 
*There is no treatment for Blau syndrome; the mainstay of therapy is supportive care.<ref name="DeSouzaShah2019">{{cite journal|last1=DeSouza|first1=Philip J.|last2=Shah|first2=Rajiv|title=Characterization of Blau syndrome panuveitis with wide-field fluorescein angiography|journal=American Journal of Ophthalmology Case Reports|volume=14|year=2019|pages=92–94|issn=24519936|doi=10.1016/j.ajoc.2019.03.006}}</ref>
*Treatment options for mild [[clinical]] phenotype include:
**Topical [[steroid]] drops
**[[NSAIDs]]
**[[Methotrexate]]
*Treatment options for severe [[clinical]] phenotype include:
**Systemic [[corticosteroids]]
**Systemic [[immune]] suppression with [[biologic]] agents
***Biologic agents targeting [[TNF]] and [[IL-1]] are especially beneficial in refractory [[uveitis]].<ref name="RoseMartin2011">{{cite journal|last1=Rose|first1=Carlos D.|last2=Martin|first2=Tammy M.|last3=Wouters|first3=Carine H.|title=Blau syndrome revisited|journal=Current Opinion in Rheumatology|volume=23|issue=5|year=2011|pages=411–418|issn=1040-8711|doi=10.1097/BOR.0b013e328349c430}}</ref>
 
===Surgery===
===Surgery===
*[[Surgical]] intervention is not recommended for the management of Blau syndrome.
*[[Surgical]] intervention is not recommended for the management of Blau syndrome.
===Primary Prevention===
===Primary Prevention===
*There are no established measures for the [[primary prevention]] of Blau syndrome.
*There are no established measures for the [[primary prevention]] of Blau syndrome.
===Secondary Prevention===
===Secondary Prevention===
*There are no established measures for the [[secondary prevention]] of Blau syndrome.
*There are no established measures for the [[secondary prevention]] of Blau syndrome.
== References ==
 
==References==
{{reflist|2}}
{{reflist|2}}
[[Category:Autoinflammatory syndromes]]
[[Category:Autoinflammatory syndromes]]
[[de:Blau-Syndrom]]
[[de:Blau-Syndrom]]
[[pl:Zespół Blaua]]
[[pl:Zespół Blaua]]

Latest revision as of 15:10, 17 January 2021

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Synonyms and keywords: Pediatric Granulomatous Arthritis (PGA), Juvenile Systemic Granulomatosis, Early Onset Sarcoidosis, Jabs Syndrome, NOD2-associated disease-Blau

Coarse facial features in a boy with Blau syndrome, Image courtesy of Donald A Glass II MD, PhD, Jennifer Maender MD, Denise Metry M

Overview

Blau syndrome is characterized by the triad of early-onset symmetric polyarticular synovitis, skin rash, and eye involvement with recurrent anterior uveitis.

Historical Perspective

Classification

  • There is no established system for the classification of Blau syndrome.

Pathophysiology

Causes

Differentiating Blau syndrome from Other Diseases

Epidemiology and Demographics

  • The prevalence of Blau syndrome has been reported less than 0.1 per 100,000 individuals worldwide.[5]
  • Blau syndrome commonly affects individuals younger than 4 years of age.
  • There is no racial predilection to Blau syndrome.
  • Blau syndrome affects men and women equally.

Risk Factors

Screening

  • There is insufficient evidence to recommend routine screening for Blau syndrome.

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Multiple, reddish-brown papules coalescing over the right arm in a boy with Blau syndrome, Image courtesy of Donald A Glass II MD, PhD, Jennifer Maender MD, Denise Metry M

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography or Ultrasound

CT scan

MRI

  • There are no MRI findings associated with Blau syndrome.

Other Imaging Findings

  • There are no other imaging findings associated with Blau syndrome.

Other Diagnostic Studies

  • There are no other diagnostic studies associated with Blau syndrome.

Treatment

Medical Therapy

Surgery

  • Surgical intervention is not recommended for the management of Blau syndrome.

Primary Prevention

Secondary Prevention

References

  1. ↑ Blau, Edward B. (1985). "Familial granulomatous arthritis, iritis, and rash". The Journal of Pediatrics. 107 (5): 689–693. doi:10.1016/S0022-3476(85)80394-2. ISSN 0022-3476.
  2. ↑ Jabs, Douglas A.; Houk, J.Lawrence; Bias, Wilma B.; Arnett, Frank C. (1985). "Familial granulomatous synovitis, uveitis, and cranial neuropathies". The American Journal of Medicine. 78 (5): 801–804. doi:10.1016/0002-9343(85)90286-4. ISSN 0002-9343.
  3. ↑ 3.0 3.1 3.2 Miceli-Richard, Corinne; Lesage, Suzanne; Rybojad, Michel; Prieur, Anne-Marie; Manouvrier-Hanu, Sylvie; Häfner, Renate; Chamaillard, Mathias; Zouali, Habib; Thomas, Gilles; Hugot, Jean-Pierre (2001). "CARD15 mutations in Blau syndrome". Nature Genetics. 29 (1): 19–20. doi:10.1038/ng720. ISSN 1061-4036.
  4. ↑ Ogura, Yasunori; Inohara, Naohiro; Benito, Adalberto; Chen, Felicia F.; Yamaoka, Shoji; Núñez, Gabriel (2001). "Nod2, a Nod1/Apaf-1 Family Member That Is Restricted to Monocytes and Activates NF-κB". Journal of Biological Chemistry. 276 (7): 4812–4818. doi:10.1074/jbc.M008072200. ISSN 0021-9258.
  5. ↑ Yi Yong, Cee; Mukhtyar, Chetan; Armon, Kate (2018). "65. Blau syndrome treated with sequential biologics". Rheumatology Advances in Practice. 2 (suppl_1). doi:10.1093/rap/rky034.028. ISSN 2514-1775.
  6. ↑ 6.0 6.1 6.2 6.3 6.4 6.5 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.
  7. ↑ 7.0 7.1 Glass DA, Maender J, Metry D (December 2009). "Two pediatric cases of Blau syndrome". Dermatol. Online J. 15 (12): 5. PMID 20040255.
  8. ↑ Khubchandani, Raju P.; Hasija, Rachana; Touitou, Isabelle; Khemani, Chetna; Wouters, Carine H.; Rose, Carlos D. (2012). "Blau Arteritis Resembling Takayasu Disease with a Novel NOD2 Mutation". The Journal of Rheumatology. 39 (9): 1888–1892. doi:10.3899/jrheum.120156. ISSN 0315-162X.
  9. ↑ 9.0 9.1 Ikeda, Kei; Kambe, Naotomo; Takei, Syuji; Nakano, Taiji; Inoue, Yuzaburo; Tomiita, Minako; Oyake, Natsuko; Satoh, Takashi; Yamatou, Tsuyoshi; Kubota, Tomohiro; Okafuji, Ikuo; Kanazawa, Nobuo; Nishikomori, Ryuta; Shimojo, Naoki; Matsue, Hiroyuki; Nakajima, Hiroshi (2014). "Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome". Arthritis Research & Therapy. 16 (2): R89. doi:10.1186/ar4533. ISSN 1478-6354.
  10. ↑ Imayoshi, Miyoko; Ogata, Yoshiyasu; Yamamoto, Shuichi (2018). "A Case of Sporadic Blau Syndrome with an Uncommon Clinical Course". Case Reports in Rheumatology. 2018: 1–5. doi:10.1155/2018/6292308. ISSN 2090-6889.
  11. ↑ Rose, C. D.; Pans, S.; Casteels, I.; Anton, J.; Bader-Meunier, B.; Brissaud, P.; Cimaz, R.; Espada, G.; Fernandez-Martin, J.; Hachulla, E.; Harjacek, M.; Khubchandani, R.; Mackensen, F.; Merino, R.; Naranjo, A.; Oliveira-Knupp, S.; Pajot, C.; Russo, R.; Thomee, C.; Vastert, S.; Wulffraat, N.; Arostegui, J. I.; Foley, K. P.; Bertin, J.; Wouters, C. H. (2014). "Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes". Rheumatology. 54 (6): 1008–1016. doi:10.1093/rheumatology/keu437. ISSN 1462-0324.
  12. ↑ DeSouza, Philip J.; Shah, Rajiv (2019). "Characterization of Blau syndrome panuveitis with wide-field fluorescein angiography". American Journal of Ophthalmology Case Reports. 14: 92–94. doi:10.1016/j.ajoc.2019.03.006. ISSN 2451-9936.
  13. ↑ Rose, Carlos D.; Martin, Tammy M.; Wouters, Carine H. (2011). "Blau syndrome revisited". Current Opinion in Rheumatology. 23 (5): 411–418. doi:10.1097/BOR.0b013e328349c430. ISSN 1040-8711.

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