Pyogenic sterile arthritis, pyoderma gangrenosum, acne: Difference between revisions
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==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> | * 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> | * 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== | ==Classification== | ||
* 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. However, it develops as a result of a mutation in the PSTPIP1 gene. | * 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]] 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. | * [[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> | ||
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* 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. | * 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. | * 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. | * 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. | ||
==Diagnosis== | ==Diagnosis== | ||
===Diagnostic Study of Choice=== | ===Diagnostic Study of Choice=== | ||
| Line 40: | Line 40: | ||
* 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. | * 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=== | ||
* A positive history of recurrent arthritis, skin ulceration, and acne is suggestive of Papa syndrome. | * 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. | * The presenting [[symptom]] of Papa syndrome is usually culture-negative [[arthritis]]. | ||
===Physical Examination=== | ===Physical Examination=== | ||
* Physical examination of patients with Papa syndrome is usually remarkable for arthritis, cystic acne, pathergy, and pyoderma gangeronosum. | * 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. | * [[Fever]] may also accompany each flare of the [[disease]]. | ||
===Laboratory Findings=== | ===Laboratory Findings=== | ||
* Laboratory findings consistent with the diagnosis of Papa syndrome include elevated serum levels of C-reactive protein (CRP), | * 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, | * [[Skin lesions]] and [[joint]] fluid are sterile. However, [[synovial fluid]] is purulent. | ||
===Electrocardiogram=== | ===Electrocardiogram=== | ||
* There are no ECG findings associated with Papa syndrome. | * There are no [[ECG]] findings associated with Papa syndrome. | ||
===X-ray=== | ===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]. | 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]. | ||
| Line 97: | Line 97: | ||
===Medical Therapy=== | ===Medical Therapy=== | ||
* There is no treatment for Papa syndrome; the mainstay of therapy is supportive care. | * There is no treatment for Papa syndrome; the mainstay of therapy is supportive care. | ||
* Treatment options for arthritis include intraarticular corticosteroid injections. | |||
* Oral corticosteroid may be useful for pyoderma gangeronosum. | |||
===Surgery=== | ===Surgery=== | ||
* Surgical intervention is not recommended for the management of Papa syndrome. | * Surgical intervention is not recommended for the management of Papa syndrome. | ||
Revision as of 15:25, 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.
- The disease severity usually decreases by the age. However, there is no data available on the prognosis of Papa syndrome.
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, synovial fluid is purulent.
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.
- Treatment options for arthritis include intraarticular corticosteroid injections.
- Oral corticosteroid may be useful for pyoderma gangeronosum.
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.