Pyogenic sterile arthritis, pyoderma gangrenosum, acne: Difference between revisions
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* 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> | * 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 Papa syndrome from Other Diseases== | ==Differentiating Papa syndrome from Other Diseases== | ||
* Papa syndrome must be differentiated from other [[diseases]] that cause [[arthritis]], [[skin rash]], and [[pyoderma gangreonosum]], such as [[Blau syndrome]], [[familial cold autoinflammatory syndrome]] and | * Papa syndrome must be differentiated from other [[diseases]] that cause [[arthritis]], [[skin rash]], and [[pyoderma gangreonosum]], such as [[Blau syndrome]], [[familial cold autoinflammatory syndrome]], chronic recurrent multifocal osteomyelitis (CRMO) , and juvenile idiopathic arthritis (JIA). | ||
* For more information on the [[differential diagnosis]] of Papa syndrome please [[Familial mediterranean fever differential diagnosis|click here]]. | * 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 [[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> | * 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> | ||
Revision as of 19:19, 2 August 2019
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
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
- The exact pathogenesis of Papa syndrome is not fully understood. However, it develops as a result of a mutation in the PSTPIP1 gene.[3]
- 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-1β) production.
- Overproduction of IL-1β is a clear molecular feature of PAPA syndrome.
Causes
- Papa syndrome is caused by a mutation in the PSTPIP1 gene.[2]
Differentiating Papa syndrome from Other Diseases
- Papa syndrome must be differentiated from other diseases that cause arthritis, skin rash, and pyoderma gangreonosum, such as Blau syndrome, familial cold autoinflammatory syndrome, chronic recurrent multifocal osteomyelitis (CRMO) , and juvenile idiopathic arthritis (JIA).
- For more information on the differential diagnosis of Papa syndrome please click here.
Epidemiology and Demographics
- The prevalence of Papa syndrome is approximately 0.01 case per 100,000 individuals worldwide.[4]
- There are 53 cases of Papa syndrome in the litreture.[5]
- 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
- 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
- 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.[4][6]
- The disease shows variable expressivity, as such not all the clinical characteristics, are found in an individual.
- 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.
Diagnosis
Diagnostic Study of Choice
- There are no established criteria for the diagnosis of Papa syndrome. The diagnosis may be made clinically.[6][7][8]
- 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.[4]
- 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, pathergy, and pyoderma gangreonosum.[5]
- Fever may also accompany each flare of the disease.
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.[6]
- Skin lesions and joint fluid are sterile. However, synovial fluid shows neutrophilic infiltrate.
- Tumor necrosis factor-a and interleukin-1 levels has been observed to be elevated in the blood of Papa syndrome cases.[9]
Electrocardiogram
- There are no ECG findings associated with Papa syndrome.
X-ray
- There are no specific x-ray findings 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.[5][10]
- Other possible radiographic features include:
- Pauciarticular, erosive arthritis
- Osteophyte formation
- Diffuse joint narrowing
- Subchondral sclerosis and cyst formation
- Reactive new bone formation
- Joint deformity or destruction with ankyloses
Echocardiography or Ultrasound
- There are no echocardiography/ultrasound findings associated with Papa syndrome.
CT scan
- There are no CT scan findings associated with Papa syndrome.
MRI
- There are no specific MRI findings 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 softtissue edema.[5]
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.[6][11]
- Treatment options for arthritis include intraarticular corticosteroid injections.
- Oral corticosteroid may be useful for pyoderma gangreonosum.
- Anakinra (interleukin-1 antagonist) has also been observed to be effective in the management of disease flares especially arthicular symptoms.
- Adalimumab ( tumor necrosis factor (TNFα) antagonist) may be effective against cutaneous manifestations of this disorder.
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
- ↑ 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.
- ↑ 2.0 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.
- ↑ 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.
- ↑ 4.0 4.1 4.2 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.
- ↑ 5.0 5.1 5.2 5.3 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.
- ↑ 6.0 6.1 6.2 6.3 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Tallon, B.; Corkill, M. (2006). "Peculiarities of PAPA syndrome". Rheumatology. 45 (9): 1140–1143. doi:10.1093/rheumatology/kei178. ISSN 1462-0332.
- ↑ 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.