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PAPA Syndrome

  • Fan Liu
  • Kanade ShinkaiEmail author
Chapter

Abstract

The pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome was first recognized in 1997 when ten family members in three generations manifested with variable expression of juvenile-onset arthritis and subsequent presentation of pyoderma gangrenosum and cystic acne in adolescence and adulthood [1]. This inherited disorder stems from dysregulation of the innate immune system, presenting with symptoms of seemingly unprovoked episodes of synovial tissue and skin inflammation [1]. Recurrent inflammation seen in PAPA syndrome typifies that classically seen in autoinflammatory disorders. Autoinflammatory disorders, though lacking clear diagnostic criteria, are marked by chronic and intermittent episodes of fever, cytokine dysregulation, and organ inflammation; skin and joint involvement is a prominent feature [2, 3]. Unlike autoimmune diseases, autoinflammatory disorders lack high-titer autoantibodies and autoreactive T lymphocytes [2]. Genes associated with inherited syndromes of autoinflammation encode for protein mediators of apoptosis, inflammation, and cytokine processing (Table 20.1) [3].

Keywords

Familial Mediterranean Fever Pyoderma Gangrenosum Hidradenitis Suppurativa Autoinflammatory Disorder Acneiform Eruption 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Abbreviations

ASC

Apoptosis-associated speck-like protein with a caspase recruitment domain

C3

Complement component 3

CAPS

Cryopyrin-associated periodic syndromes

CD2BP1

CD2-binding protein 1

DMARDs

Disease-modifying antirheumatic drugs

FMA

Familial Mediterranean fever

IgM

Immunoglobulin M

IL

Interleukin

IL-1β

Interleukin-1-beta

kD

Kilodalton

NLRP3

Nucleotide oligomerization domain-like receptor family pyrin domain containing 3

NSAIDs

Nonsteroidal anti-inflammatory drugs

PAPA

Pyogenic sterile arthritis, pyoderma gangrenosum, and acne

PSTPIP1

Proline-serine-threonine phosphatase interacting protein 1

PTP-PEST

Proline-glutamic acid-serine-threonine-rich family of protein tyrosine phosphatases

TNFα

Tumor necrosis factor alpha

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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.Department of DermatologyUniversity of California, San FranciscoSan FranciscoUSA

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