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{{SI}}
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{{CMG}}; {{AE}} {{Sahar}}
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{{SK}}  
{{SK}} [[PAPA syndrome]]
 
==Overview==
==Overview==
Pyogenic sterile [[arthritis]], [[pyoderma gangrenosum]], acne syndrome, PAPA syndrome, is one of the inherited [[Periodic fever syndrome|autoinflammatory disorders]]. PAPA syndrome presents with the triad of [[aseptic]] [[arthritis]], [[pyoderma gangrenosum]], and [[acne]]. However, not all the features may be present in all the [[patients]].
==Historical Perspective==
==Historical Perspective==
* Papa syndrome was first discovered by Dr. Noralane M. Lindor, in 1997 following visiting several patients from three generations of a family with similar presentations.<ref name="LindorArsenault1997">{{cite journal|last1=Lindor|first1=Noralane M.|last2=Arsenault|first2=Todd M.|last3=Solomon|first3=Herman|last4=Seidman|first4=Christine E.|last5=McEvoy|first5=Marian T.|title=A New Autosomal Dominant Disorder of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne: PAPA Syndrome|journal=Mayo Clinic Proceedings|volume=72|issue=7|year=1997|pages=611–615|issn=00256196|doi=10.4065/72.7.611}}</ref>
* The association between PSTPIP1 gene mutation and Papa syndrome was made in the year 2000.<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>
==Classification==
* There is no established system for the classification of Papa syndrome.
==Pathophysiology==
The exact pathogenesis of [disease name] is not fully understood.


OR
*PAPA syndrome was first discovered by Dr. Noralane M. Lindor, in 1997 following visiting several patients from three generations of a family with similar presentations.<ref name="LindorArsenault1997">{{cite journal|last1=Lindor|first1=Noralane M.|last2=Arsenault|first2=Todd M.|last3=Solomon|first3=Herman|last4=Seidman|first4=Christine E.|last5=McEvoy|first5=Marian T.|title=A New Autosomal Dominant Disorder of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne: PAPA Syndrome|journal=Mayo Clinic Proceedings|volume=72|issue=7|year=1997|pages=611–615|issn=00256196|doi=10.4065/72.7.611}}</ref>
*The [[Association (statistics)|association]] between [[PSTPIP1]] [[gene]] [[mutation]] and PAPA syndrome was made in the year 2000.<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>


It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
==Classification==


OR
*There is no established system for the [[classification]] of PAPA syndrome.


[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
==Pathophysiology==


OR
*The exact [[pathogenesis]] of PAPA syndrome is not fully understood. However, it develops as a result of a [[mutation]] in the [[PSTPIP1]] [[gene]].<ref name="J. SmithAllantaz2010">{{cite journal|last1=J. Smith|first1=Elisabeth|last2=Allantaz|first2=Florence|last3=Bennett|first3=Lynda|last4=Zhang|first4=Dongping|last5=Gao|first5=Xiaochong|last6=Wood|first6=Geryl|last7=L. Kastner|first7=Daniel|last8=Punaro|first8=Marilynn|last9=Aksentijevich|first9=Ivona|last10=Pascual|first10=Virginia|last11=A. Wise|first11=Carol|title=Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review|journal=Current Genomics|volume=11|issue=7|year=2010|pages=519–527|issn=13892029|doi=10.2174/138920210793175921}}</ref><ref name="ShohamCentola2003">{{cite journal|last1=Shoham|first1=N. G.|last2=Centola|first2=M.|last3=Mansfield|first3=E.|last4=Hull|first4=K. M.|last5=Wood|first5=G.|last6=Wise|first6=C. A.|last7=Kastner|first7=D. L.|title=Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway|journal=Proceedings of the National Academy of Sciences|volume=100|issue=23|year=2003|pages=13501–13506|issn=0027-8424|doi=10.1073/pnas.2135380100}}</ref>
*[[Mutation]] is inherited in an [[autosomal dominant]] mode.
*The [[mutation]] leads to a hyper-phosphorylated [[PSTPIP1]] [[protein]] which changes its action in the inflammasome involved in [[interleukin-1]] ([[IL-1|IL-1β]]) production.
*Overproduction of [[IL-1|IL-1β]] is a clear [[molecular]] feature of PAPA syndrome.


Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
==Causes==
 
OR
 
 
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].


OR
*PAPA syndrome is [[Causes|caused]] by a [[mutation]] in the [[PSTPIP1]] [[gene]].<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>


The progression to [disease name] usually involves the [molecular pathway].
==Differentiating PAPA syndrome from Other Diseases==


OR
*PAPA syndrome must be [[Differential diagnosis|differentiated]] from other [[diseases]] that cause [[arthritis]], [[skin rash]], and [[pyoderma gangrenosum]], such as [[Blau syndrome]], [[familial cold autoinflammatory syndrome]], [[chronic recurrent multifocal osteomyelitis]] ([[Chronic recurrent multifocal osteomyelitis|CRMO]]) , and [[juvenile idiopathic arthritis]] ([[Juvenile idiopathic arthritis|JIA]]).
*For more information on the [[differential diagnosis]] of PAPA syndrome please [[Familial mediterranean fever differential diagnosis|click here]].


The pathophysiology of [disease/malignancy] depends on the histological subtype.
==Causes==
Papa syndrome is caused by a mutation in the PSTPIP1 gene.<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>
==Differentiating ((Page name)) from Other Diseases==
* Papa syndrome must be differentiated from other diseases that cause arthritis , skin rash, and pyoderma gangeronosum, such as [differential dx1], [differential dx2], and [differential dx3].
*
==Epidemiology and Demographics==
==Epidemiology and Demographics==
The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.


OR
*The [[prevalence]] of PAPA syndrome is approximately 0.01 case per 100,000 individuals worldwide.<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>
*There are 53 cases of PAPA syndrome in the literature.<ref name="Martinez-RiosJariwala2018">{{cite journal|last1=Martinez-Rios|first1=Claudia|last2=Jariwala|first2=Mehul P.|last3=Highmore|first3=Kerri|last4=Duffy|first4=Karen Watanabe|last5=Spiegel|first5=Lynn|last6=Laxer|first6=Ronald M.|last7=Stimec|first7=Jennifer|title=Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature|journal=Pediatric Radiology|volume=49|issue=1|year=2018|pages=23–36|issn=0301-0449|doi=10.1007/s00247-018-4246-1}}</ref>
*PAPA syndrome commonly affects children. However, it may develop later in some individuals.
*There is no [[racial]] predilection to PAPA syndrome.
*PAPA syndrome affects men and women equally.
*The majority of PAPA syndrome cases are reported in  Europe, New Zealand, and the USA.


In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
==Risk Factors==


OR
*There are no established [[risk factors]] for PAPA syndrome.


In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%.
==Screening==


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


==Natural History, Complications, and Prognosis==


Patients of all age groups may develop [disease name].
*PAPA syndrome first manifests with [[signs]] and [[symptoms]] of [[arthritis]] by 1 to 10 years of age. [[Skin lesions]] usually develop later in adolescence and they tend to affect the skin of [[limbs]].<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><ref name="Dierselhuis2005">{{cite journal|last1=Dierselhuis|first1=M. P.|title=Anakinra for flares of pyogenic arthritis in PAPA syndrome|journal=Rheumatology|volume=44|issue=3|year=2005|pages=406–408|issn=1460-2172|doi=10.1093/rheumatology/keh479}}</ref>
*The [[disease]] shows variable expressivity and [[incomplete penetrance]].
*Common [[complications]] of PAPA syndrome include erosive [[arthritis]].
*The [[disease]] severity usually decreases by the age. However, there is no data available on the [[prognosis]] of PAPA syndrome.
*The [[disease]] may lead to serious [[joint]] destruction.


OR
==Diagnosis==
===Diagnostic Study of Choice===


The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
*There are no established criteria for the [[diagnosis]] of PAPA syndrome. The [[diagnosis]] may be made clinically.<ref name="Dierselhuis2005">{{cite journal|last1=Dierselhuis|first1=M. P.|title=Anakinra for flares of pyogenic arthritis in PAPA syndrome|journal=Rheumatology|volume=44|issue=3|year=2005|pages=406–408|issn=1460-2172|doi=10.1093/rheumatology/keh479}}</ref><ref name="HoriuchiFukatsu2016">{{cite journal|last1=Horiuchi|first1=Isao|last2=Fukatsu|first2=Yuko|last3=Ushijima|first3=Junko|last4=Nakamura|first4=Eishin|last5=Samajima|first5=Koki|last6=Kadowaki|first6=Kanako|last7=Takagi|first7=Kenjiro|title=A pregnancy-associated nonfamilial case of PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, acne) syndrome|journal=Clinical Case Reports|volume=4|issue=10|year=2016|pages=989–991|issn=20500904|doi=10.1002/ccr3.662}}</ref><ref name="HongSu2009">{{cite journal|last1=Hong|first1=Jin-Bon|last2=Su|first2=Yi-Ning|last3=Chiu|first3=Hsien-Ching|title=Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome): Report of a sporadic case without an identifiable mutation in the CD2BP1 gene|journal=Journal of the American Academy of Dermatology|volume=61|issue=3|year=2009|pages=533–535|issn=01909622|doi=10.1016/j.jaad.2008.11.017}}</ref>
*[[Genetic analysis]] and location of a [[mutation]] in the [[PSTPIP1]] [[gene]] may be done for the confirmation of the [[diagnosis]]. However, there are reported cases of PAPA syndrome with negative [[genetic]] results.


OR
===History and Symptoms===


[Disease name] commonly affects individuals younger than/older than [number of years] years of age.
*A positive history of recurrent [[arthritis]],  skin ulceration, and [[acne]] is suggestive of PAPA syndrome.<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>
*The presenting [[symptom]] of PAPA syndrome is usually culture-negative [[arthritis]].


OR
===Physical Examination===


[Chronic disease name] is usually first diagnosed among [age group].
*[[Physical examination]] of [[patients]] with PAPA syndrome is usually remarkable for [[arthritis]], [[cystic acne]], [[pathergy]], and [[pyoderma gangreonosum]].<ref name="Martinez-RiosJariwala2018">{{cite journal|last1=Martinez-Rios|first1=Claudia|last2=Jariwala|first2=Mehul P.|last3=Highmore|first3=Kerri|last4=Duffy|first4=Karen Watanabe|last5=Spiegel|first5=Lynn|last6=Laxer|first6=Ronald M.|last7=Stimec|first7=Jennifer|title=Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature|journal=Pediatric Radiology|volume=49|issue=1|year=2018|pages=23–36|issn=0301-0449|doi=10.1007/s00247-018-4246-1}}</ref>
*[[Fever]] may also accompany each flare of the [[disease]].


OR
===Laboratory Findings===


[Acute disease name] commonly affects [age group].
*Laboratory findings consistent with the [[diagnosis]] of PAPA syndrome include elevated [[serum]] levels of [[C-reactive protein]] ([[CRP]]), [[erythrocyte sedimentation rate]] ([[ESR]]), and [[WBC]].<ref name="Dierselhuis2005">{{cite journal|last1=Dierselhuis|first1=M. P.|title=Anakinra for flares of pyogenic arthritis in PAPA syndrome|journal=Rheumatology|volume=44|issue=3|year=2005|pages=406–408|issn=1460-2172|doi=10.1093/rheumatology/keh479}}</ref>
* There is no racial predilection to Papa syndrome.
*[[Skin lesions]] and [[joint]] fluid are [[sterile]]. However, [[synovial fluid]] shows [[Neutrophil|neutrophilic]] infiltrate.
* Papa syndrome affects men and women equally.
*[[Tumor necrosis factor-alpha|Tumor necrosis factor-a]] and [[Interleukin 1|interleukin-1]] levels has been observed to be elevated in the [[blood]] of PAPA syndrome cases.<ref name="CortisDe Benedetti2004">{{cite journal|last1=Cortis|first1=Elisabetta|last2=De Benedetti|first2=Fabrizio|last3=Insalaco|first3=Antonella|last4=Cioschi|first4=Stefania|last5=Muratori|first5=Flaminia|last6=D'Urbano|first6=Leila E.|last7=Ugazio|first7=Alberto G.|title=Abnormal production of the tumor necrosis factor inhibitor etanercept and clinical efficacy of tumor in a patient with PAPA syndrome|journal=The Journal of Pediatrics|volume=145|issue=6|year=2004|pages=851–855|issn=00223476|doi=10.1016/j.jpeds.2004.08.001}}</ref>
* The majority of Papa syndrome cases are reported in  Europe, New Zealand, and the USA.
==Risk Factors==
* There are no established risk factors for Papa syndrome.
==Screening==
* There is insufficient evidence to recommend routine screening for Papa syndrome.
==Natural History, Complications, and Prognosis==
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].


OR
===Electrocardiogram===
 
Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].


OR
*There are no [[ECG]] findings [[Association (statistics)|associated]] with PAPA syndrome.


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===
* There are no established criteria for the diagnosis of Papa syndrome. The diagnosis may be made clinically.
* Genetic analysis and location of a mutation in the PSTPIP1 gene may be done for the confirmation of the diagnosis. However, there are reported cases of Papa syndrome with negative genetic results.
===History and Symptoms===
* A positive history of recurrent arthritis,  skin ulceration, and acne is suggestive of Papa syndrome.
* The presenting symptom of Papa syndrome is usually culture-negative arthritis.
===Physical Examination===
* Physical examination of patients with Papa syndrome is usually remarkable for arthritis, cystic acne, and pyoderma gangeronosum.
===Laboratory Findings===
* Laboratory findings consistent with the diagnosis of Papa syndrome include elevated serum levels of C-reactive protein (CRP), Erythrocyte sedimentation rate (ESR), and WBC.
*
===Electrocardiogram===
* There are no ECG findings associated with Papa syndrome.
===X-ray===
===X-ray===
There are no x-ray findings associated with [disease name].


OR
*There are no specific [[x-ray]] findings [[Association (statistics)|associated]] with PAPA syndrome. However, an [[x-ray]] may be helpful in the [[diagnosis]] of [[complications]] of [[arthritis]], which include [[soft tissue]] [[swelling]], and large [[joint]] effusion.<ref name="Martinez-RiosJariwala2018">{{cite journal|last1=Martinez-Rios|first1=Claudia|last2=Jariwala|first2=Mehul P.|last3=Highmore|first3=Kerri|last4=Duffy|first4=Karen Watanabe|last5=Spiegel|first5=Lynn|last6=Laxer|first6=Ronald M.|last7=Stimec|first7=Jennifer|title=Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature|journal=Pediatric Radiology|volume=49|issue=1|year=2018|pages=23–36|issn=0301-0449|doi=10.1007/s00247-018-4246-1}}</ref><ref name="TallonCorkill2006">{{cite journal|last1=Tallon|first1=B.|last2=Corkill|first2=M.|title=Peculiarities of PAPA syndrome|journal=Rheumatology|volume=45|issue=9|year=2006|pages=1140–1143|issn=1462-0332|doi=10.1093/rheumatology/kei178}}</ref>
*Other possible [[radiographic]] [[Features (pattern recognition)|features]] include pauciarticular, erosive arthritis, [[osteophytes|Osteophyte]] formation, diffuse [[joint]] narrowing, subchondral [[sclerosis]] and [[cyst]] formation, reactive new bone formation, and [[joint]] [[deformity]] or destruction with [[ankylosis]].


An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
===Echocardiography or Ultrasound===


OR
*There are no [[echocardiography]]/[[ultrasound]]  findings [[Association (statistics)|associated]] with PAPA syndrome.


There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
===CT scan===


===Echocardiography or Ultrasound===
*There are no [[CT scan]] findings [[Association (statistics)|associated]] with PAPA syndrome.
There are no echocardiography/ultrasound  findings associated with [disease name].


OR
===MRI===


Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
*There are no specific [[MRI]] findings [[Association (statistics)|associated]] with PAPA syndrome. However, a [[MRI]] may be helpful in the [[diagnosis]] of [[complications]] of [[arthritis]], which include [[synovitis]], [[synovial]] [[hypertrophy]], increased enhancement, [[bone marrow]] [[edema]]/enhancement and surrounding [[soft tissue]] [[edema]].<ref name="Martinez-RiosJariwala2018">{{cite journal|last1=Martinez-Rios|first1=Claudia|last2=Jariwala|first2=Mehul P.|last3=Highmore|first3=Kerri|last4=Duffy|first4=Karen Watanabe|last5=Spiegel|first5=Lynn|last6=Laxer|first6=Ronald M.|last7=Stimec|first7=Jennifer|title=Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature|journal=Pediatric Radiology|volume=49|issue=1|year=2018|pages=23–36|issn=0301-0449|doi=10.1007/s00247-018-4246-1}}</ref>


OR
===Other Imaging Findings===


There are no echocardiography/ultrasound  findings associated with [disease name]. However, an echocardiography/ultrasound  may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
*There are no other [[imaging]] findings [[Association (statistics)|associated]] with PAPA syndrome.


===CT scan===
===Other Diagnostic Studies===
There are no CT scan findings associated with [disease name].


OR
*There are no other [[diagnostic]] studies [[Association (statistics)|associated]] with PAPA syndrome.


[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
==Treatment==
===Medical Therapy===


OR
*There is no treatment for PAPA syndrome; the mainstay of therapy is supportive care.<ref name="Dierselhuis2005">{{cite journal|last1=Dierselhuis|first1=M. P.|title=Anakinra for flares of pyogenic arthritis in PAPA syndrome|journal=Rheumatology|volume=44|issue=3|year=2005|pages=406–408|issn=1460-2172|doi=10.1093/rheumatology/keh479}}</ref><ref name="DemidowichFreeman2012">{{cite journal|last1=Demidowich|first1=Andrew P.|last2=Freeman|first2=Alexandra F.|last3=Kuhns|first3=Douglas B.|last4=Aksentijevich|first4=Ivona|last5=Gallin|first5=John I.|last6=Turner|first6=Maria L.|last7=Kastner|first7=Daniel L.|last8=Holland|first8=Steven M.|title=Brief Report: Genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne)|journal=Arthritis & Rheumatism|volume=64|issue=6|year=2012|pages=2022–2027|issn=00043591|doi=10.1002/art.34332}}</ref>
*Treatment options for [[arthritis]] include [[intraarticular]] [[corticosteroid]] [[injections]].
*Oral [[corticosteroid]] may be useful for [[pyoderma gangrenosum]].
*[[Anakinra]] ([[Interleukin 1|interleukin-1]] [[antagonist]]) has also been observed to be effective in the management of [[disease]] flares especially [[Joint|arthicular]] [[symptoms]].
*[[Adalimumab]] ([[tumor necrosis factor]]  [[antagonist]]) may be effective against [[cutaneous]] manifestations of this [[disorder]].


There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
===Surgery===


===MRI===
*[[Surgical]] [[intervention]] is not recommended for the management of PAPA syndrome.
There are no MRI findings associated with [disease name].


OR
===Primary Prevention===


[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
*There are no established measures for the [[primary prevention]] of PAPA syndrome.


OR
===Secondary Prevention===


There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
*There are no established measures for the [[secondary prevention]] of PAPA syndrome.


===Other Imaging Findings===
* There are no other imaging findings associated with Papa syndrome.
===Other Diagnostic Studies===
* There are no other diagnostic studies associated with Papa syndrome.
==Treatment==
===Medical Therapy===
* There is no treatment for Papa syndrome; the mainstay of therapy is supportive care.
===Surgery===
* Surgical intervention is not recommended for the management of Papa syndrome.
===Primary Prevention===
* There are no established measures for the primary prevention of Papa syndrome.
===Secondary Prevention===
* There are no established measures for the secondary prevention of Papa syndrome.
==References==
==References==
{{reflist|2}}
{{reflist|2}}
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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: PAPA syndrome

Overview

Pyogenic sterile arthritis, pyoderma gangrenosum, acne syndrome, PAPA syndrome, is one of the inherited autoinflammatory disorders. PAPA syndrome presents with the triad of aseptic arthritis, pyoderma gangrenosum, and acne. However, not all the features may be present in all the patients.

Historical Perspective

  • PAPA syndrome was first discovered by Dr. Noralane M. Lindor, in 1997 following visiting several patients from three generations of a family with similar presentations.[1]
  • The association between PSTPIP1 gene mutation and PAPA syndrome was made in the year 2000.[2]

Classification

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

Pathophysiology

Causes

Differentiating PAPA syndrome from Other Diseases

Epidemiology and Demographics

  • The prevalence of PAPA syndrome is approximately 0.01 case per 100,000 individuals worldwide.[5]
  • There are 53 cases of PAPA syndrome in the literature.[6]
  • PAPA syndrome commonly affects children. However, it may develop later in some individuals.
  • There is no racial predilection to PAPA syndrome.
  • PAPA syndrome affects men and women equally.
  • The majority of PAPA syndrome cases are reported in Europe, New Zealand, and the USA.

Risk Factors

Screening

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

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

  • A positive history of recurrent arthritis, skin ulceration, and acne is suggestive of PAPA syndrome.[5]
  • The presenting symptom of PAPA syndrome is usually culture-negative arthritis.

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography or Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

References

  1. ↑ Lindor, Noralane M.; Arsenault, Todd M.; Solomon, Herman; Seidman, Christine E.; McEvoy, Marian T. (1997). "A New Autosomal Dominant Disorder of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne: PAPA Syndrome". Mayo Clinic Proceedings. 72 (7): 611–615. doi:10.4065/72.7.611. ISSN 0025-6196.
  2. ↑ 2.0 2.1 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.
  3. ↑ J. Smith, Elisabeth; Allantaz, Florence; Bennett, Lynda; Zhang, Dongping; Gao, Xiaochong; Wood, Geryl; L. Kastner, Daniel; Punaro, Marilynn; Aksentijevich, Ivona; Pascual, Virginia; A. Wise, Carol (2010). "Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review". Current Genomics. 11 (7): 519–527. doi:10.2174/138920210793175921. ISSN 1389-2029.
  4. ↑ Shoham, N. G.; Centola, M.; Mansfield, E.; Hull, K. M.; Wood, G.; Wise, C. A.; Kastner, D. L. (2003). "Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway". Proceedings of the National Academy of Sciences. 100 (23): 13501–13506. doi:10.1073/pnas.2135380100. ISSN 0027-8424.
  5. ↑ 5.0 5.1 5.2 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.
  6. ↑ 6.0 6.1 6.2 6.3 Martinez-Rios, Claudia; Jariwala, Mehul P.; Highmore, Kerri; Duffy, Karen Watanabe; Spiegel, Lynn; Laxer, Ronald M.; Stimec, Jennifer (2018). "Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature". Pediatric Radiology. 49 (1): 23–36. doi:10.1007/s00247-018-4246-1. ISSN 0301-0449.
  7. ↑ 7.0 7.1 7.2 7.3 Dierselhuis, M. P. (2005). "Anakinra for flares of pyogenic arthritis in PAPA syndrome". Rheumatology. 44 (3): 406–408. doi:10.1093/rheumatology/keh479. ISSN 1460-2172.
  8. ↑ Horiuchi, Isao; Fukatsu, Yuko; Ushijima, Junko; Nakamura, Eishin; Samajima, Koki; Kadowaki, Kanako; Takagi, Kenjiro (2016). "A pregnancy-associated nonfamilial case of PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, acne) syndrome". Clinical Case Reports. 4 (10): 989–991. doi:10.1002/ccr3.662. ISSN 2050-0904.
  9. ↑ Hong, Jin-Bon; Su, Yi-Ning; Chiu, Hsien-Ching (2009). "Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome): Report of a sporadic case without an identifiable mutation in the CD2BP1 gene". Journal of the American Academy of Dermatology. 61 (3): 533–535. doi:10.1016/j.jaad.2008.11.017. ISSN 0190-9622.
  10. ↑ Cortis, Elisabetta; De Benedetti, Fabrizio; Insalaco, Antonella; Cioschi, Stefania; Muratori, Flaminia; D'Urbano, Leila E.; Ugazio, Alberto G. (2004). "Abnormal production of the tumor necrosis factor inhibitor etanercept and clinical efficacy of tumor in a patient with PAPA syndrome". The Journal of Pediatrics. 145 (6): 851–855. doi:10.1016/j.jpeds.2004.08.001. ISSN 0022-3476.
  11. ↑ Tallon, B.; Corkill, M. (2006). "Peculiarities of PAPA syndrome". Rheumatology. 45 (9): 1140–1143. doi:10.1093/rheumatology/kei178. ISSN 1462-0332.
  12. ↑ Demidowich, Andrew P.; Freeman, Alexandra F.; Kuhns, Douglas B.; Aksentijevich, Ivona; Gallin, John I.; Turner, Maria L.; Kastner, Daniel L.; Holland, Steven M. (2012). "Brief Report: Genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne)". Arthritis & Rheumatism. 64 (6): 2022–2027. doi:10.1002/art.34332. ISSN 0004-3591.

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