Ancient friends, revisited: Systematic review and case report of pyoderma gangrenosum-associated autoinflammatory syndromes
Tài liệu tham khảo
Alavi, 2017, Pyoderma gangrenosum: an update on pathophysiology, diagnosis and treatment, Am. J. Clin. Dermatol., 18, 355, 10.1007/s40257-017-0251-7
Trémezaygues, 2010, Management of pyoderma gangrenosum. An update on clinical features, diagnosis and therapy, Hautarzt, 61, 345, 10.1007/s00105-009-1909-8
Braswell, 2015, Pathophysiology of pyoderma gangrenosum (PG): an updated review, J. Am. Acad. Dermatol., 73, 691, 10.1016/j.jaad.2015.06.021
Nesterovitch, 2011, Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosum, Clin. Exp. Dermatol., 36, 889, 10.1111/j.1365-2230.2011.04137.x
Engels, 2019, Autoinflammatorische syndrome in der Dermatologie, Hautnah Dermatol., 35, 34, 10.1007/s15012-019-2886-y
Müller, 2016, Report of a case of familial mediterranean fever with special emphasis on histopathologic characteristics, Global Dermatology, 3, 375
Strowig, 2012, Inflammasomes in health and disease, Nature, 481, 278, 10.1038/nature10759
Girardelli, 2018, Novel NOD2 mutation in early-onset inflammatory bowel phenotype, Inflamm. Bowel Dis., 18, 1204, 10.1093/ibd/izy061
Marzano, 2013, Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene, J.A.M.A. Dermatol., 149, 762
Yang, 2006, CD2BP1 modulates CD2-dependent T cell activation via linkage to protein tyrosine phosphatase (PTP)-PEST, J. Immunol., 176, 5898, 10.4049/jimmunol.176.10.5898
Li, 1998, A cdc15-like adaptor protein (CD2BP1) interacts with the CD2 cytoplasmic domain and regulates CD2-triggered adhesion, EMBO J., 17, 10.1093/emboj/17.24.7320
Wise, 2002, Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder, Hum. Mol. Genet., 11, 961, 10.1093/hmg/11.8.961
Lindwall, 2015, Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA-syndrome), Semin. Arthritis Rheum., 25, 91, 10.1016/j.semarthrit.2015.02.012
Marzano, 2018, A dermatologic perspective on autoinflammatory diseases, Clin. Exp. Rheumatol., 36, 32
Shoham, 2003, Pyrin binds the PSTPIP1CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway, Proc. Natl. Acad. Sci. Unit. States Am., 100, 13501, 10.1073/pnas.2135380100
Holzinger, 2015, Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases, J. Allergy Clin. Immunol., 136, 1337, 10.1016/j.jaci.2015.04.016
Simon, 2007, Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes, Am. J. Physiol. Regul. Integr. Comp. Physiol., 1, R86, 10.1152/ajpregu.00504.2006
Shirotani, 2003, Gamma-secretase activity is associated with a conformational change of nicastrin, J. Biol. Chem., 278, 16474, 10.1074/jbc.C300095200
Gottlieb, 2019, PAPASH, PsAPASH and PASS autoinflammatory syndromes: phenotypic heterogeneity, common biological signature and response to immunosuppressive regimens, Br. J. Dermatol., 181, 866, 10.1111/bjd.18003
Lindor, 1997, A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome, Mayo Clin. Proc., 72, 611, 10.1016/S0025-6196(11)63565-9
Renn, 2007, Pyogenic arthritis, pyoderma gangrenosum and acne syndrome (PAPA syndrome), Hautarzt, 58, 383, 10.1007/s00105-007-1331-z
Geusau, 2013, Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment, J.A.M.A. Dermatol., 149, 209
Lee, 2012, Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) with E250K mutation in CD2BP1 gene treated with the tumor necrosis factor inhibitor adalimumab, Clin. Exp. Rheumatol., 30, 452
Demidowich, 2012, Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne), Arthritis Rheum., 64, 2022, 10.1002/art.34332
Cortis, 2014, Abnormal production of tumor necrosis factor (TNF) -- alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome, J. Pediatr., 145, 851, 10.1016/j.jpeds.2004.08.001
Tallon, 2006, Peculiarities of PAPA syndrome, Rheumatology, 45, 1140, 10.1093/rheumatology/kei178
Toplak, 2012, An international registry on autoinflammatory diseases: the Eurofever experience, Ann. Rheum. Dis., 71, 1177, 10.1136/annrheumdis-2011-200549
Waite, 2009, Pyrin modulates the intracellular distribution of PSTPIP1, PloS One, 7, 10.1371/journal.pone.0006147
Fathalla, 2014, A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome, Clin. Exp. Rheumatol., 32, 956
Hong, 2009, Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome): report of a sporadic case without an identifiable mutation in the CD2BP1 gene, J. Am. Acad. Dermatol., 61, 533, 10.1016/j.jaad.2008.11.017
Cugno, 2017, PAPA, PASH and PAPASH syndromes: pathophysiology, presentation and treatment, Am. J. Clin. Dermatol., 18, 555, 10.1007/s40257-017-0265-1
Stichweh, 2005, Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome, Pediatr. Dermatol., 22, 262, 10.1111/j.1525-1470.2005.22320.x
Tofteland, 2010, Clinical efficacy of etanercept for treatment of PAPA syndrome, J. Clin. Rheumatol., 16, 244, 10.1097/RHU.0b013e3181e969b9
Stichweh, 2005, Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome, Pediatr. Dermatol., 22, 262, 10.1111/j.1525-1470.2005.22320.x
Brenner, 2009, Targeted treatment of pyoderma gangrenosum in PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome with the recombinant human interleukin-1 receptor antagonist anakinra, Br. J. Dermatol., 161, 1199, 10.1111/j.1365-2133.2009.09404.x
Dierselhuis, 2005, Anakinra for flares of pyogenic arthritis in PAPA syndrome, Rheumatology, 44, 406, 10.1093/rheumatology/keh479
Braun-Falco, 2012, Pyoderma gangrenosum, acne and suppurative hidradenitis (PASH) – a new autoinflammatory syndrome distinct from PAPA syndrome, J. Am. Acad. Dermatol., 66, 409, 10.1016/j.jaad.2010.12.025
Björkstén, 1978, Chronic recurrent multifocal osteomyelitis and pustulosis palmoplantaris, J. Pediatr., 93, 227, 10.1016/S0022-3476(78)80501-0
Saraceno, 2015, PsAPASH: a new syndrome associated with hidradenitis suppurativa with response to tumor necrosis factor inhibition, J. Am. Acad. Dermatol., 72, e42, 10.1016/j.jaad.2014.10.002
Calderón-Castrat, 2016, PSTPIP1 gene mutation in a pyoderma gangrenosum, acne and suppurative hidradenitis (PASH) syndrome, Br. J. Dermatol., 175, 194, 10.1111/bjd.14383
Marzano, 2014, Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases, Medicine (Baltim.), 93, e187, 10.1097/MD.0000000000000187
Duchatelet, 2015, First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome, Br. J. Dermatol., 173, 610, 10.1111/bjd.13668
Saito, 2018, A, Novel PSTPIP1 gene mutation in pyoderma gangrenosum, acne and suppurative hidradenitis syndrome, J. Dermatol., 45, e213, 10.1111/1346-8138.14259
Staub, 2015, Successful treatment of PASH syndrome with infliximab, cyclosporine and dapsone, J. Eur. Acad. Dermatol. Venerol., 29, 2243, 10.1111/jdv.12765
Lamiaux, 2017, Successful combined antibiotic therapy with oral clindamycin and oral rifampicin for pyoderma gangrenosum in patient with PASH syndrome, J.A.A.D. Case Rep, 18, 17
Join-Lambert, 2015, Remission of refractory pyoderma gangrenosum, severe acne, and hidradenitis suppurativa (PASH) syndrome using targeted antibiotic therapy in 4 patients, J. Am. Acad. Dermatol., 73, S66, 10.1016/j.jaad.2015.07.040
Garzorz, 2016, Pyoderma gangrenosum, acne, psoriasis, arthritis and suppurative hidradenitis (PAPASH)-syndrome: a new entity within the spectrum of autoinflammatory syndromes?, J. Eur. Acad. Dermatol. Venereol., 30, 141, 10.1111/jdv.12631
Gadelha, 2020, PsAPASH: a rare and recent autoinflammatory syndrome associated with hidradenitis suppurativa, An. Bras. Dermatol., 95, 203, 10.1016/j.abd.2019.02.012
Bruzzese, 2012, Pyoderma gangrenosum, acne conglobata, suppurative hidradenitis, and axial spondyloarthritis: efficacy of anti-tumor necrosis factor α therapy, J. Clin. Rheumatol., 18, 413, 10.1097/RHU.0b013e318278b84c
Leuenberger, 2016, PASS syndrome: an IL-1-driven autoinflammatory disease, Dermatology, 232, 254, 10.1159/000443648
Zeeli, 2015, Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene, Clin. Exp. Dermatol., 40, 367, 10.1111/ced.12585
Schäffler, 2019, PAPA-Syndrom mit Morbus Crohn und primär sklerosierender Cholangitis/Autoimmunhepatitis-Overlap-Syndrom, Hautarzt, 70, 116, 10.1007/s00105-018-4312-5
Ursani, 2016, Pyogenic arthritis, pyoderma gangrenosum, acne, suppurative hidradenitis (PA-PASH) syndrome: an atypical presentation of a rare syndrome, Am. J. Case Rep., 17, 587, 10.12659/AJCR.898027
Niv, 2017, Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH) syndrome with recurrent vasculitis, J.A.A.D. Case Rep., 3, 70
Murphy, 2015, Successful use of adalimumab to treat pyoderma gangrenosum, acne and suppurative hidradenitis (PASH syndrome) following colectomy in ulcerative colitis, Int. J. Colorectal Dis., 30, 1139, 10.1007/s00384-014-2110-9
Holzinger, 2016, Alarming consequences – autoinflammatory disease spectrum due to mutations in proline-serinethreonine phosphatase-interacting protein 1, Curr. Opin. Rheumatol., 28, 550, 10.1097/BOR.0000000000000314
Smith, 2010, Clinical, molecular, and genetic characteristics of PAPA syndrome: a review, Curr. Genom., 11, 519, 10.2174/138920210793175921
Yang, 2019, Recent advances in the mechanisms of NLRP3 inflammasome activation and its inhibitors, Cell Death Dis., 10, 128, 10.1038/s41419-019-1413-8