Pyogenic sterile arthritis, pyoderma gangrenosum, acne: Difference between revisions
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* There is no established system for the classification of Papa syndrome. | * There is no established system for the classification of Papa syndrome. | ||
==Pathophysiology== | ==Pathophysiology== | ||
* The exact pathogenesis of Papa syndrome is not fully understood. | * The exact pathogenesis of Papa syndrome is not fully understood. However, it develops as a result of a mutation in the PSTPIP1 gene. | ||
* Mutation is inherited in an autosomal dominant mode. | |||
* Mutation in the gene leads to abnormal regulation of inflammatory response and subsequent chronic inflammation of skin and joints. | |||
==Causes== | ==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> | * 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== | ==Differentiating ((Page name)) from Other Diseases== | ||
* Papa syndrome must be differentiated from other diseases that cause arthritis , skin rash, and pyoderma gangeronosum, such as [ | * Papa syndrome must be differentiated from other diseases that cause arthritis, skin rash, and pyoderma gangeronosum, such as [[Blau syndrome]], [[familial cold autoinflammatory syndrome]] and [[spondyloarthropathies]]. | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
* The prevalence of Papa syndrome is approximately 0.1 case per 100,000 individuals worldwide. | * The prevalence of Papa syndrome is approximately 0.1 case per 100,000 individuals worldwide. | ||
* Papa syndrome commonly affects | * Papa syndrome commonly affects children. However, it may develop later in some individuals. | ||
* There is no racial predilection to Papa syndrome. | * There is no racial predilection to Papa syndrome. | ||
* Papa syndrome affects men and women equally. | * Papa syndrome affects men and women equally. | ||
| Line 56: | Line 31: | ||
* There is insufficient evidence to recommend routine screening for Papa syndrome. | * There is insufficient evidence to recommend routine screening for Papa syndrome. | ||
==Natural History, Complications, and Prognosis== | ==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. | |||
* The disease shows incomplete penetrance, as such not all the clinical characteristics, are found in an individual. | |||
* Common complications of | * Common complications of Papa syndrome include erosive arthritis. | ||
* Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%. | |||
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=== | ||
| Line 73: | Line 47: | ||
===Laboratory Findings=== | ===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. | * Laboratory findings consistent with the diagnosis of Papa syndrome include elevated serum levels of C-reactive protein (CRP), Erythrocyte sedimentation rate (ESR), and WBC. | ||
* | * Skin lesions and joint fluid are sterile. However, joint fluid is full of neutrophils during the episodes of arthritis. | ||
===Electrocardiogram=== | ===Electrocardiogram=== | ||
* There are no ECG findings associated with Papa syndrome. | * There are no ECG findings associated with Papa syndrome. | ||
Revision as of 15:07, 1 August 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
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.
- Mutation is inherited in an autosomal dominant mode.
- Mutation in the gene leads to abnormal regulation of inflammatory response and subsequent chronic inflammation of skin and joints.
Causes
- Papa syndrome is caused by a mutation in the PSTPIP1 gene.[2]
Differentiating ((Page name)) from Other Diseases
- Papa syndrome must be differentiated from other diseases that cause arthritis, skin rash, and pyoderma gangeronosum, such as Blau syndrome, familial cold autoinflammatory syndrome and spondyloarthropathies.
Epidemiology and Demographics
- The prevalence of Papa syndrome is approximately 0.1 case per 100,000 individuals worldwide.
- 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.
- The disease shows incomplete penetrance, as such not all the clinical characteristics, are found in an individual.
- Common complications of Papa syndrome include erosive arthritis.
- 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, pathergy, and pyoderma gangeronosum.
- 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.
- Skin lesions and joint fluid are sterile. However, joint fluid is full of neutrophils during the episodes of arthritis.
Electrocardiogram
- There are no ECG findings associated with Papa syndrome.
X-ray
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
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 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
There are no CT scan findings associated with [disease name].
OR
[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
There are no MRI findings associated with [disease name].
OR
[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
- 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
- ↑ 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.