A New Autosomal Dominant Disorder of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne: PAPA Syndrome

Lindor, Noralane M.; Arsenault, Todd M.; Solomon, Herman; Seidman, Christine E.; McEvoy, Marian T.

doi:10.1016/s0025-6196(11)63565-9

Cited by 254 publications

(135 citation statements)

References 12 publications

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“…Reports from the literature suggest that corticosteroids are beneficial for arthritis but less effective in pyoderma gangrenosum 51–53. Immunosuppressants are partially effective at best, although the combination of sulfasalazine and leflunomide induced remission in one reported case 52 53.…”

Section: Resultsmentioning

confidence: 95%

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

et al. 2012

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Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever/Eurotraps Projects. AbstractObjective To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review.Methods The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase.Results 22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative. ConclusionsIn the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.

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Section: Resultsmentioning

confidence: 95%

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

et al. 2012

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“…A related autoinflammatory condition is the PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum and acne), which shares overlapping features with PsA, including monoarthropathy and pustular skin disease 23. Collectively these clinical manifestations strongly overlap with inflammatory bowel disease and PsA phenotypes 24.…”

Section: Understanding the Genetics Of The Pathogenesis Of Psoriatic mentioning

confidence: 99%

“…68 A recent study in this regard found subclinical enthesopathy in over 40% of psoriasis cases69 and similar findings have been demonstrated with MRI,70 observations that support the deep Koebnerisation response. Not surprisingly the monogenic disorders of innate immunity and the PAPA syndrome, in particular, have been associated with trauma as a precipitating factor,23 24 71 which collectively suggests that microdamage is a pivotal factor in any array of inflammatory arthropathies related to the SpA spectrum.…”

Section: Subclinical Skeletal Abnormalities In Psoriasismentioning

confidence: 99%

The early phase of psoriatic arthritis

McGonagle

Ash

Dickie

et al. 2011

Annals of the Rheumatic Diseases

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Evaluation of the preclinical phases of the classic autoimmune diseases including rheumatoid arthritis has been facilitated by the availability of autoantibody and genetic markers that point firmly towards the early dysregulation of the adaptive immune responses. The association of psoriatic disease with the human leucocyte antigen-Cw0602 (HLA-Cw0602) gene has likewise led to the perception that autoimmunity has a pivotal role in early psoriatic arthritis (PsA). However, this HLA-Cw0602 genetic association does not appear to hold for PsA or associated nail, scalp and intergluteal skin involvement. Of note, these three sites of psoriasis are predictive of PsA evolution. For initiation of both skin and nail disease there is a link with Koebnerisation, or site-specific trauma. Nail disease is most common in the dominant hand thumbnail, pointing towards local tissue factors as disease initiators Likewise, for PsA, there is also good evidence for a history of previous joint trauma and histological studies showing microdamage in normal entheses which are typical locations where PsA frequently occurs. Furthermore, subclinical enthesopathy including osteitis is common in subjects with psoriasis but without arthritis. Collectively, these findings indicate that the classic model of adaptive immune dysregulation does not generally hold for the early stages of PsA. The way in which knowledge pertaining to tissue-specific factors in PsA, combined with the emerging data relating to monogenic disorders and animal models, points towards perturbation in the healing response and dysregulation of innate immune responses in early PsA is discussed. The way in which this model explains the clinical disconnect between skin and joint disease and the emerging human data that support it are demonstrated.

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“…PAPA syndrome is a rare autosomal dominant condition first described in 1997 in a large American pedigree where 10 family members over three generations showed variable expression of pauciarticular, non-axial, destructive, corticosteroid responsive arthritis that began in childhood, pyoderma gangrenosum and severe cystic acne in adolescence and beyond 11. Since then there have been a number of other case reports and the involved gene has been identified as PSTPIP1 (also known as CD2BP1), although the exact function of the gene product is as yet not fully understood 12.…”

Section: Commentmentioning

confidence: 99%

Getting to the bones of the matter

Gray

McMullan

Ziegler

2010

Archives of Disease in Childhood - Education and Practice

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A New Autosomal Dominant Disorder of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne: PAPA Syndrome

Abstract: The acronym of PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) is suggested for this newly recognized pleiotropic autosomal dominant disorder. The nature of the genetic alteration in PAPA syndrome is unknown.

Cited by 254 publications

References 12 publications

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

The early phase of psoriatic arthritis

Getting to the bones of the matter

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