W L Liang, H G Li, G Zhong, B S Wang, J D Ma, J L Chen, H W Mao, Y L Yu-Lung, P H Lee
Objective: To analyze the clinical course and targeted therapy of pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. Methods: The clinical history of a 6-year-old boy with PAPA syndrome, who was admitted to Hong Kong University Shenzhen Hospital in September 2017, was reviewed. His genetic diagnosis was confirmed by whole exome sequencing. The response to targeted therapy was evaluated by comparing the inflammatory markers (erythrocyte sedimentation rate (ESR) and C reactive protein (CRP) and serum cytokines (interleukin (IL)-1, IL-6 and tumor necrosis factor-α (TNF-α)) before and after biological agents treatment...
December 2, 2020: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Guilaine Boursier, Maryam Piram, Cécile Rittore, Guillaume Sarrabay, Isabelle Touitou
Pathogenic variants in the PSTPIP1 gene cause pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. They were also identified in a broad spectrum of phenotypes. As their interpretation is sometimes challenging, we discuss the genotype-phenotype association in PSTPIP1-associated autoinflammatory diseases (PAIDs) in light of a recent consensus classification of variant pathogenicity. Only 7 of 39 (18%) of the PSTPIP1 variants found in all reported cases and our national reference center (161 patients [114 probands]) were pathogenic...
November 17, 2020: Journal of Investigative Dermatology
Giovanni Genovese, Chiara Moltrasio, Simone Garcovich, Angelo V Marzano
Pyogenic arthritis, pyoderma gangrenosum (PG) and acne (PAPA) syndrome is an autosomal dominant autoinflammatory syndrome due to mutations in proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) gene and presenting with cutaneous and articular manifestations. Other autoinflammatory syndromes caused by mutations in PSTPIP1 gene or characterized by clinical findings overlapping with those found in PAPA syndrome have been recently included in the group of PAPA spectrum disorders. These disorders are PASH (PG, acne and hidradenitis suppurativa [HS]), PAPASH (PASH associated with pyogenic sterile arthritis), PsAPASH (PASH combined with psoriatic arthritis [PsA], PASS (PG, acne, ankylosing spondylitis, with or without HS), PAC (PG, acne and ulcerative colitis [UC]) and PAMI syndrome (PSTPIP1-associated myeloid-related-proteinemia inflammatory syndrome)...
July 2, 2020: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
Zoé Germont, Philippe Bidet, Céline Plainvert, Stéphane Bonacorsi, Claire Poyart, Valérie Biran, Alice Frérot, Albert Faye, Romain Basmaci
Few data are available on invasive group A Streptococcus (GAS) infections (IGASIs) in infants. We described initial clinical and laboratory features and outcomes of <3-month-old infants hospitalized for an IGASI between 2007 and 2016 in France. Patients were identified from the French National Reference Centre for streptococci. IGASI was defined by the isolation of GAS from blood cultures or from other usually sterile sites. Data collection was performed by assessing the patients' hospitalization reports...
2020: Frontiers in Pediatrics
Nobuo Kanazawa
"Autoinflammatory disease (AiD)" has first been introduced in 1999 when the responsible gene for the familial Hibernean fever or autosomal dominant-type familial Mediterranean fever-like periodic fever syndrome was reportedly identified as tumor necrosis factor receptor superfamily 1 . Linked with the rapid research progress in the field of innate immunity, "autoinflammation" has been designated for dysregulated innate immunity in contrast to "autoimmunity" with dysregulated acquired immunity...
2020: Frontiers in Immunology
Holger Schäffler, Theresia Blattmann, Annette Findeisen, Felix G Meinel, Almut Meyer-Bahlburg, Georg Lamprecht, Lars Steinmüller-Magin, Ralf Trauzeddel, Steffen Emmert
BACKGROUND: The PAPA syndrome, an acronym for pyogenic sterile arthritis, pyoderma gangraenosum and acne, is an autosomal dominant hereditary disease which is caused by a mutation in the PSTPIP1 ("proline-serine-threonine phosphatase interacting protein 1") gene located on chromosome 15 and encodes the proline-serine-threonine phosphatase-interacting protein 1. An association with Crohn's disease (CD), autoimmune diseases of the liver and PAPA syndrome has not yet been reported in the literature...
February 2019: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
Claudia Martinez-Rios, Mehul P Jariwala, Kerri Highmore, Karen Watanabe Duffy, Lynn Spiegel, Ronald M Laxer, Jennifer Stimec
Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome is a rare autosomal-dominant autoinflammatory disease of incomplete penetrance and variable expression. PAPA syndrome is the result of a mutation in the proline serine threonine phosphatase-interacting protein 1 (PSTPIP1/CD2BP1) gene located on chromosome 15, which results in an abnormal overproduction of the pro-inflammatory cytokine interleukin-1β (IL-1). This syndrome clinically manifests as early onset of recurrent episodes of acute aseptic inflammation of the joints, generally occurring in the first two decades of life, followed by manifestation of characteristic skin lesions in the third decade, after an obvious decline in the joint symptoms...
January 2019: Pediatric Radiology
Pragnesh Mistry, Carmelo Carmona-Rivera, Amanda K Ombrello, Patrycja Hoffmann, Nickie L Seto, Anne Jones, Deborah L Stone, Faiza Naz, Philip Carlucci, Stefania Dell'Orso, Gustavo Gutierrez-Cruz, Hong-Wei Sun, Daniel L Kastner, Ivona Aksentijevich, Mariana J Kaplan
OBJECTIVES: Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome is characterised by flares of sterile arthritis with neutrophil infiltrate and the overproduction of interleukin (IL)-1β. The purpose of this study was to elucidate the potential role of neutrophil subsets and neutrophil extracellular traps (NET) in the pathogenesis of PAPA. METHODS: Neutrophils and low-density granulocytes (LDG) were quantified by flow cytometry. Circulating NETs were measured by ELISA and PAPA serum was tested for the ability to degrade NETs...
December 2018: Annals of the Rheumatic Diseases
Caroline Vinkel, Simon F Thomsen
Autoinflammatory syndromes associated with hidradenitis suppurativa (HS) and/or acne are rare but potentially debilitating disorders if not diagnosed and treated correctly. They share a common pathogenesis involving a dysregulated innate immune system with abnormal interleukin (IL)-1 signaling leading to sterile neutrophilic inflammation. The clinical features are recurrent episodes of fever, painful arthritis, and skin lesions consistent with HS, acne, and pyoderma gangrenosum (PG) accompanied by elevated systemic inflammatory markers in blood...
August 2017: International Journal of Dermatology
Massimo Cugno, Alessandro Borghi, Angelo V Marzano
Pyoderma gangrenosum (PG) is a neutrophilic dermatosis usually manifesting as skin ulcers with undermined erythematous-violaceous borders. It may be isolated, associated with systemic conditions or occurring in the context of autoinflammatory syndromes such as PAPA (pyogenic arthritis, PG and acne), PASH (PG, acne and suppurative hidradenitis) or PAPASH (pyogenic arthritis, acne, PG and suppurative hidradenitis). From a physiopathological point of view, all these conditions share common mechanisms consisting of over-activation of the innate immune system leading to increased production of the interleukin (IL)-1 family and 'sterile' neutrophil-rich cutaneous inflammation...
August 2017: American Journal of Clinical Dermatology
Elio Kechichian, Roger Haber, Nadim Mourad, Rana El Khoury, Samer Jabbour, Roland Tomb
Pyoderma gangrenosum (PG) is a sterile neutrophilic disorder that rarely affects children. Clinical, epidemiological, and therapeutic data on pediatric PG is poor as there are many newly reported associated diseases and drugs. This paper aims to review all recent available data on pediatric PG. A systematic review of the literature was conducted using Embase, Medline, and Cochrane databases. A total of 132 articles were included in the review. The most commonly reported underlying diseases in pediatric PG are inflammatory bowel diseases followed by hematologic disorders, vasculitis, immune deficiencies and Pyogenic Arthritis, Pyoderma gangrenosum and Acne (PAPA) syndrome...
May 2017: International Journal of Dermatology
Isao Horiuchi, Yuko Fukatsu, Junko Ushijima, Eishin Nakamura, Koki Samajima, Kanako Kadowaki, Kenjiro Takagi
Little is known about the influence of pregnancy on pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome. We experienced a rare case of pregnancy complicated with PAPA syndrome. The patient had various histories of skin and joint disorders and experienced subarachnoid hemorrhage during pregnancy; however, her skin lesion was unaffected.
October 2016: Clinical Case Reports
Dirk Holzinger, Johannes Roth
PURPOSE OF REVIEW: To give an overview about the expanding spectrum of autoinflammatory diseases due to mutations in proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) and new insights into their pathogenesis. RECENT FINDINGS: In addition to classical pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome, PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome has been described as a distinct clinical phenotype of PSTPIP1-associated inflammatory diseases (PAID) and other entities are emerging...
September 2016: Current Opinion in Rheumatology
A V Marzano, A Borghi, P L Meroni, M Cugno
Pyoderma gangrenosum is a rare inflammatory neutrophilic dermatosis manifesting as painful ulcers with violaceous, undermined borders on the lower extremities. It may occur in the context of classic syndromes like PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) and SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis), as well as in a recently described entity named PASH (pyoderma gangrenosum, acne and suppurative hidradenitis). Pyoderma gangrenosum has recently been included within the spectrum of autoinflammatory diseases, which are characterized by recurrent episodes of sterile inflammation, without circulating autoantibodies and autoreactive T cells...
November 2016: British Journal of Dermatology
Alessia Omenetti, Sonia Carta, Roberta Caorsi, Martina Finetti, Daniela Marotto, Bianca Lattanzi, Mauro Jorini, Laura Delfino, Federica Penco, Paolo Picco, Antonella Buoncompagni, Alberto Martini, Anna Rubartelli, Marco Gattorno
OBJECTIVE: To provide a rationale for anti-IL-1 treatment in pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) by defining whether IL-1β secretion is enhanced; requires NLRP3; and correlates with proline-serine-threonine phosphatase-interacting protein 1 mutations, disease activity and/or the clinical picture in PAPA. METHODS: Monocytes were isolated from 13 patients and 35 healthy donors and studied at baseline and following activation. Secretion pattern of IL-1β, IL-1α, IL-1Ra, IL-6, IL-18 and TNF-α was assessed in supernatants by ELISA...
July 2016: Rheumatology
Roberto Díez-Martínez, Esther García-Fernández, Miguel Manzano, Ángel Martínez, Mirian Domenech, María Vallet-Regí, Pedro García
Drug-loaded nanoparticles (NPs) can improve infection treatment by ensuring drug concentration at the right place within the therapeutic window. Poly(lactic-co-glycolic acid) (PLGA) NPs are able to enhance drug localization in target site and to sustainably release the entrapped molecule, reducing the secondary effects caused by systemic antibiotic administration. We have loaded auranofin, a gold compound traditionally used for treatment of rheumatoid arthritis, into PLGA NPs and their efficiency as antibacterial agent against two Gram-positive pathogens, Streptococcus pneumoniae and Streptococcus pyogenes was evaluated...
January 18, 2016: Scientific Reports
Elvira Lindwall, Shikha Singla, William E Davis, Robert J Quinet
INTRODUCTION: Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant disease that usually presents in childhood with recurrent sterile arthritis. As the child ages into puberty, cutaneous features develop and arthritis subsides. We report the case of a now 25-year-old male patient with PAPA syndrome with the E250K mutation in PSTPIP1. We also present a systematic literature review of other PAPA cases. METHOD: We conducted a literature search of PubMed using the following search terms: E250K mutation, PSTPIP1, and PAPA...
August 2015: Seminars in Arthritis and Rheumatism
T Zeeli, G Padalon-Brauch, E Ellenbogen, A Gat, O Sarig, E Sprecher
BACKGROUND: Pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome is a rare hereditary, autosomal dominant, auto-inflammatory disease caused by mutations in the PSTPIP1 gene, which encodes proline-serine-threonine phosphatase interacting protein 1. The fact that PSTPIP1 is involved in immune regulation provides a rationale for treatment of this rare disease with interleukin (IL)-1 signalling blocking agents. AIM: We investigated a 33-year-old man with a long-standing history of ulcerative colitis, severe acne and recurrent skin ulcerations, and a 3-year history of a recalcitrant pustular rash...
June 2015: Clinical and Experimental Dermatology
Basil M Fathalla, Adel M Al-Wahadneh, Mariam Al-Mutawa, Marios Kambouris, Hatem El-Shanti
Autoinflammatory disorders are a group of Mendelian disorders characterized by seemingly unprovoked inflammatory bouts without high-titer autoantibodies or antigen-specific T-cells and are probably due to defects in the innate immunity. We here report on a 4-year-old Arabic boy with the clinical presentation of an autoinflammatory disorder, namely Pyogenic Arthritis, Pyoderma Gangrenosum and Acne (PAPA) syndrome. The presentation includes abscess formation after immunization and recurrent mono-articular acute arthritis in various joints that responded favourably to systemic glucocorticosteroids, albeit without acne or pyoderma gangrenosum...
November 2014: Clinical and Experimental Rheumatology
Taylor W Starnes, David A Bennin, Xinyu Bing, Jens C Eickhoff, Daniel C Grahf, Jason M Bellak, Christine M Seroogy, Polly J Ferguson, Anna Huttenlocher
PSTPIP1 is a cytoskeletal adaptor and F-BAR protein that has been implicated in autoinflammatory disease, most notably in the PAPA syndrome: pyogenic sterile arthritis, pyoderma gangrenosum, and acne. However, the mechanism by which PSTPIP1 regulates the actin cytoskeleton and contributes to disease pathogenesis remains elusive. Here, we show that endogenous PSTPIP1 negatively regulates macrophage podosome organization and matrix degradation. We identify a novel PSTPIP1-R405C mutation in a patient presenting with aggressive pyoderma gangrenosum...
April 24, 2014: Blood
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