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:10.4065/72.7.611

Cited by 175 publications

(123 citation statements)

References 12 publications

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“…PAPA syndrome was irst described as a hereditary disease in 1997 [37]. There is a PSTPIP1/CD2BP1 mutation on chromosome 15q that causes an increased binding ainity to pyrin and induces the assembly of inlammasomes [37]. The caspase, a protease, is activated and converts inactive prointerleukin (IL)-1 beta to its active isoform IL-1 beta.…”

Section: Papa Syndromementioning

confidence: 99%

Acne-Associated Syndromes

Emiroğlu¹

2017

Acne and Acneiform Eruptions

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Introduction: Acne, a chronic inlammatory disorder of pilosebaceous unit, is characterized by comedones, pustules, papules, nodules, cysts, and scars. It afects nearly 85% of adolescents. High sebaceous gland secretion, follicular hyperproliferation, high androgen efects, propionibacterium acnes colonization, and inlammation are major pathogenic factors. Systemic disease or syndromes that are associated with acne are less commonly deined. Therefore, these syndromes may not be usually recognized easily.Research methods: Acne-associated syndromes prove the nature of these diseases and are indicative of pathogenesis of acne. Polycystic ovary (PCOS), synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO), hyperandrogenism-insulin resistance-acanthosis nigricans (HAIR-AN), pyogenic arthritis-pyoderma gangrenosum-acne (PAPA), pyoderma gangrenosum-acne vulgaris-hidradenitis suppurativa-ankylosing spondylitis (PASS), pyoderma gangrenosum-acne conglobate-hidradenitis suppurativa (PASH), seborrhea-acne-hirsutism-androgenic alopecia (SAHA), and Apert syndromes are wellknown acne-associated syndromes. Endocrine disorders (insulin resistance, obesity, hyperandrogenism, etc.) can be commonly seen in these syndromes, and there are too many unknown factors that must be investigated in the formation of these syndromes.Conclusion-key results: If we are aware of the component of these syndromes, we will recognize those easily during dermatological examination. Knowledge of clinical manifestations and molecular mechanisms of these syndromes will help us to understand acne pathogenesis. When acne pathogenesis is explained clearly, new treatment modalities will be developed.

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Section: Papa Syndromementioning

confidence: 99%

Acne-Associated Syndromes

Emiroğlu¹

2017

Acne and Acneiform Eruptions

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“…Elle est secondaire à une mutation du gène PST-PIP1 (proline serine threonine phosphatase-interacting protein 1) qui est impliqué dans la régulation de la réponse inflammatoire. Cette affection, décrite pour la première fois en 1997 par Lindor et al [51], appartient au groupe des maladies auto-inflammatoires héréditaires, comme la fièvre méditerra-néenne familiale, le syndrome hyper-IgD et les cryopyrinopathies (urticaire familiale au froid, syndrome de Muckle Wells et CINCA syndrome) [39]. Les mécanismes moléculaires par lesquels les mutations du gène PSTPIP1 provoqueraient le syndrome PAPA ne sont pas totalement élucidés, mais il semble que la PSTPIP1 hyperphosphorylée se lie plus avidement à la pyrine, ce qui diminuerait l'effet « freinateur » de la pyrine sur l'activité de l'inflammasome, et entrainerait une augmentation du taux d'IL-1β par activation de la caspase-1 [10].…”

Section: Aspect Clinique Et Maladies Associéesunclassified

Pyoderma gangrenosum (1^èrepartie) : mise au point

Chariatte

Lysitsa

Lombardi³

et al. 2011

Med Buccale Chir Buccale

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(Reçu le 18 janvier 2011, accepté le 8 mars 2011)Mots clés : pyoderma gangrenosum / dermatoses neutrophiliques / pathologies associées Résumé -Le pyoderma gangrenosum (PG) est une affection rare, se traduisant par une ou plusieurs ulcération(s) aseptique(s), à fond purulent, à bords surélevés et sous-minés, ayant une extension rapide et une évolution chronique. Il existe plusieurs formes cliniques mais l'aspect fait souvent évoquer une infection subaiguë ou chronique ; la recherche initiale de germes est toujours négative mais il y a souvent une surinfection. Le PG qui est rattaché aux dermatoses neutrophiliques est souvent associé à des pathologies spécifiques et il évolue en général parallèlement à l'affection associée. La prise en charge du PG commence donc par le traitement de cette dernière. Pour le PG lui-même, de nombreux traitements ont été proposés mais les corticoïdes et la ciclosporine constituent en général le traitement de première intention.Key words: pyoderma gangrenosum / neutrophilic dermatoses / associated pathologies Abstract -Pyoderma gangrenosum. Part I: literature review. Pyoderma gangrenosum (PG) is a rare non infectious neutrophilic dermatosis, characterized by one or many sterile painful ulcer(s), with a purulent base, raised and undermined edges; it has a rapid extension and a chronic evolution. There are several clinical forms, but the appearance is often suggestive of a subacute or a chronic infection; the initial search for microorganisms is always negative but secondary infection occurs frequently. PG is often associated with specific diseases and it generally evolves in parallel to the associated condition. Management of PG therefore begins by treating the underlying disorder. For the PG itself, many treatments have been proposed, but corticosteroids and cyclosporine are the first-line treatment.Le pyoderma gangrenosum (PG) est une affection rare qui se traduit cliniquement par une ou plusieurs ulcérations douloureuses ayant une bordure inflammatoire avec des clapiers purulents. Leur extension est rapide et leur évolution chronique. Le PG est maintenant rattaché aux dermatoses neutrophiliques.La description princeps a été réalisée par Louis Brocq en 1908 sous le terme de « phagédénisme géométrique ». Le terme phagédénisme (φάγειν, manger ;άδην, abondamment) a été proposé pour décrire des ulcérations qui ont tendance à s'étendre en surface et en profondeur [48]. En 1930, Brunsting, Goeckermann et O'Leary lui donnèrent son appellation actuelle. Ils décrivirent des ulcérations nécrotiques, extensives, douloureuses, à bords bleutés et sous-minés, entourées d'une aréole érythémateuse chez 5 patients, dont 4 étaient atteints d'une rectocolite ulcéreuse [13]. Ils pensaient que cette pathologie était liée à une infection. Des études ultérieures ont élargi le concept clinique du PG et identifié d'autres maladies associées. Dans la plupart des cas, le PG est associé avec une maladie intestinale inflammatoire

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“…Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is an autoinflammatory disease characterized by destructive inflammation of the skin and joints [1] in association with genetic mutation of the Pombe Cdc15 homology family member PSTPIP1 [2,3] . This is an extremely rare disease as the prevalence is estimated less than one per million.…”

Section: Introductionmentioning

confidence: 99%

A case of pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome successfully treated with combination therapy of corticosteroids, cyclosporine, and colchicine

Hashizume¹,

Kageyama

Umayahara

et al. 2018

Trends Immunother

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Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is an autoinflammatory disease characterized by destructive inflammation of the skin and joints in association with genetic mutation of the Pombe Cdc15 homology family member PSTPIP1. Because a therapeutic strategy specific to this disease has not been established, treatment is always challenging for clinicians. We herein describe a case of PAPA syndrome with typical clinical features successfully treated with combination therapy of traditional anti-inflammatory drugs. A 39-year-old man presented with painful plaques on his extremities that had been present for several years. Large brown plaques were observed on both arms and legs with numerous fistulae and ulcers. Cystic acne lesions subsequently appeared on his cheeks and upper back. We diagnosed the patient with PAPA syndrome based on the presence of typical clinical features; however, no genetic mutations of exon-1 to 15 of PSTPIP1 were found. Although recent reports have emphasized the efficacy of biologics that target inflammatory cytokines such as antibodies to interleukin-1β and tumor necrosis factor-α, use of these agents remains uncovered by health insurance in Japan, showing unresolved discrepancy in practical use for clinicians. The present patient was successfully treated with combined therapy of a corticosteroid, colchicine, and cyclosporine A, encouraging the use of this combination therapy as a novel therapeutic option.

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

Cited by 175 publications

References 12 publications

Acne-Associated Syndromes

Acne-Associated Syndromes

Pyoderma gangrenosum (1^èrepartie) : mise au point

A case of pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome successfully treated with combination therapy of corticosteroids, cyclosporine, and colchicine

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

Cited by 175 publications

References 12 publications

Acne-Associated Syndromes

Acne-Associated Syndromes

Pyoderma gangrenosum (1èrepartie) : mise au point

A case of pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome successfully treated with combination therapy of corticosteroids, cyclosporine, and colchicine

Contact Info

Product

Resources

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Pyoderma gangrenosum (1^èrepartie) : mise au point