Pyogenic sterile arthritis, pyoderma gangrenosum, acne
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:
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.
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].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
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 [differential dx1], [differential dx2], and [differential dx3].
Epidemiology and Demographics
- The prevalence of Papa syndrome is approximately 0.1 case per 100,000 individuals worldwide.
- Papa syndrome commonly affects individuals younger individuals. 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
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3]. OR
- Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
OR 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.
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.