Pyogenic sterile arthritis, pyoderma gangrenosum, acne: Difference between revisions

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__NOTOC__
__NOTOC__
{{SI}}
{{SI}}
{{CMG}}; {{AE}} {{Sahar}}


{{CMG}}; {{AE}}
{{SK}} [[PAPA syndrome]]
 
{{SK}}  
 
==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==
[Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].


The association between [important risk factor/cause] and [disease name] was made in/during [year/event].
*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>
In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].
 
In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].
 
There have been several outbreaks of [disease name], including -----.
 
In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].


==Classification==
==Classification==
There is no established system for the classification of [disease name].
OR
[Disease name] may be classified according to [classification method] into [number] subtypes/groups: [group1], [group2], [group3], and [group4].
OR
[Disease name] may be classified into [large number > 6] subtypes based on [classification method 1], [classification method 2], and [classification method 3].
[Disease name] may be classified into several subtypes based on [classification method 1], [classification method 2], and [classification method 3].
OR
Based on the duration of symptoms, [disease name] may be classified as either acute or chronic.
OR
If the staging system involves specific and characteristic findings and features:
According to the [staging system + reference], there are [number] stages of [malignancy name] based on the [finding1], [finding2], and [finding3]. Each stage is assigned a [letter/number1] and a [letter/number2] that designate the [feature1] and [feature2].
OR
The staging of [malignancy name] is based on the [staging system].
OR


There is no established system for the staging of [malignancy name].
*There is no established system for the [[classification]] of PAPA syndrome.


==Pathophysiology==
==Pathophysiology==
The exact pathogenesis of [disease name] is not fully understood.
OR
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].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR


The progression to [disease name] usually involves the [molecular pathway].
*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.
OR
*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.
The pathophysiology of [disease/malignancy] depends on the histological subtype.


==Causes==
==Causes==
Disease name] may be caused by [cause1], [cause2], or [cause3].
OR
Common causes of [disease] include [cause1], [cause2], and [cause3].
OR
The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].
OR
The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click [[Pericarditis causes#Overview|here]].


==Differentiating ((Page name)) from Other Diseases==
*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>
[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].


OR
==Differentiating PAPA syndrome from Other Diseases==


[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].
*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]].


==Epidemiology and Demographics==
==Epidemiology and Demographics==
The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
OR
In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
OR
In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%.
Patients of all age groups may develop [disease name].
OR
The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
OR
[Disease name] commonly affects individuals younger than/older than [number of years] years of age.
OR
[Chronic disease name] is usually first diagnosed among [age group].
OR
[Acute disease name] commonly affects [age group].
There is no racial predilection to [disease name].
OR
[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].
[Disease name] affects men and women equally.
OR
[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.
The majority of [disease name] cases are reported in [geographical region].


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>
[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
*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==
==Risk Factors==
There are no established risk factors for [disease name].


OR
*There are no established [[risk factors]] for PAPA syndrome.
 
The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].
 
OR
 
Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].
 
OR
 
Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.


==Screening==
==Screening==
There is insufficient evidence to recommend routine screening for [disease/malignancy].
OR


According to the [guideline name], screening for [disease name] is not recommended.
*There is insufficient evidence to recommend routine [[screening]] for PAPA syndrome.
 
OR
 
According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].


==Natural History, Complications, and Prognosis==
==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
*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 [disease name] include [complication 1], [complication 2], and [complication 3].
*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.
OR
*The [[disease]] may lead to serious [[joint]] destruction.
 
Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.


==Diagnosis==
==Diagnosis==
===Diagnostic Study of Choice===
===Diagnostic Study of Choice===
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
OR
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
OR
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
OR


There are no established criteria for the diagnosis of [disease name].
*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.


===History and Symptoms===
===History and Symptoms===
The majority of patients with [disease name] are asymptomatic.
OR


The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
*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]].


===Physical Examination===
===Physical Examination===
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].


OR
*[[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]].
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
 
OR
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].


===Laboratory Findings===
===Laboratory Findings===
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
OR
Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
OR
[Test] is usually normal among patients with [disease name].


OR
*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>
 
*[[Skin lesions]] and [[joint]] fluid are [[sterile]]. However, [[synovial fluid]] shows [[Neutrophil|neutrophilic]] infiltrate.
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
*[[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>
 
OR
 
There are no diagnostic laboratory findings associated with [disease name].


===Electrocardiogram===
===Electrocardiogram===
There are no ECG findings associated with [disease name].


OR
*There are no [[ECG]] findings [[Association (statistics)|associated]] with PAPA syndrome.
 
An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].


===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].
 
OR
 
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].


===Echocardiography or Ultrasound===
===Echocardiography or Ultrasound===
There are no echocardiography/ultrasound  findings associated with [disease name].
OR
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].


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


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


OR
*There are no [[CT scan]] findings [[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].
 
OR
 
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].


===MRI===
===MRI===
There are no MRI findings associated with [disease name].


OR
*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>
 
[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].
 
OR
 
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].


===Other Imaging Findings===
===Other Imaging Findings===
There are no other imaging findings associated with [disease name].


OR
*There are no other [[imaging]] findings [[Association (statistics)|associated]] with PAPA syndrome.
 
[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].


===Other Diagnostic Studies===
===Other Diagnostic Studies===
There are no other diagnostic studies associated with [disease name].


OR
*There are no other [[diagnostic]] studies [[Association (statistics)|associated]] with PAPA syndrome.
 
[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].


==Treatment==
==Treatment==
===Medical Therapy===
===Medical Therapy===
There is no treatment for [disease name]; the mainstay of therapy is supportive care.
OR
Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].
OR
The majority of cases of [disease name] are self-limited and require only supportive care.
OR
[Disease name] is a medical emergency and requires prompt treatment.
OR


The mainstay of treatment for [disease name] is [therapy].
*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]].
OR
*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]].
The optimal therapy for [malignancy name] depends on the stage at diagnosis.
*[[Adalimumab]] ([[tumor necrosis factor]] [[antagonist]]) may be effective against [[cutaneous]] manifestations of this [[disorder]].
 
OR
 
[Therapy] is recommended among all patients who develop [disease name].
 
OR
 
Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
 
OR
 
Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
 
OR
 
Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].
 
OR
 
Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].


===Surgery===
===Surgery===
Surgical intervention is not recommended for the management of [disease name].


OR
*[[Surgical]] [[intervention]] is not recommended for the management of PAPA syndrome.
 
Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3]
 
OR
 
The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3].
 
OR
 
The feasibility of surgery depends on the stage of [malignancy] at diagnosis.
 
OR
 
Surgery is the mainstay of treatment for [disease or malignancy].


===Primary Prevention===
===Primary Prevention===
There are no established measures for the primary prevention of [disease name].
OR
There are no available vaccines against [disease name].
OR
Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
OR


[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].
*There are no established measures for the [[primary prevention]] of PAPA syndrome.


===Secondary Prevention===
===Secondary Prevention===
There are no established measures for the secondary prevention of [disease name].
OR


Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].
*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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