Research & Literature

A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome.

Fathalla BM, Al-Wahadneh AM, Al-Mutawa M, et al.

Clinical and experimental rheumatology 2014; (32(6)):956-8.

Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.

Lindwall E, Singla S, Davis WE, Quinet RJ

Seminars in arthritis and rheumatism 2015; (45(1)):91-3.

Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.

Holzinger D, Fassl SK, de Jager W, et al.

The Journal of allergy and clinical immunology 2015; (136(5)):1337-45.

Pyoderma Gangrenosum:Recognition and Management.

Pompeo MQ

Wounds : a compendium of clinical research and practice 2016; (28(1)):7-13.

PASS Syndrome: An IL-1-Driven Autoinflammatory Disease.

Leuenberger M, Berner J, Di Lucca J, et al.

Dermatology (Basel, Switzerland) 2016; (232(2)):254-8 doi:10.1159/000443648.

Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome.

Omenetti A, Carta S, Caorsi R, et al.

Rheumatology (Oxford, England) 2016; (55(7)):1325-35 doi:10.1093/rheumatology/kew031.

Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation.

Marzano AV, Borghi A, Meroni PL, Cugno M

The British journal of dermatology 2016; (175(5)):882-891 doi:10.1111/bjd.14691.

The Relationship between NALP3 and Autoinflammatory Syndromes.

Campbell L, Raheem I, Malemud CJ, Askari AD

International journal of molecular sciences 2016; (17(5)).

PAPA, PASH and PAPASH Syndromes: Pathophysiology, Presentation and Treatment.

Cugno M, Borghi A, Marzano AV

American journal of clinical dermatology 2017; (18(4)):555-562 doi:10.1007/s40257-017-0265-1.

Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome: differential diagnosis of septic arthritis by regular detection of exceedingly high synovial cell counts.

Löffler W, Lohse P, Weihmayr T, Widenmayer W

Infection 2017; (45(4)):395-402 doi:10.1007/s15010-017-0996-1.

[Proteus mirabilis septic arthritis].

Sbiti M, Bouhamidi B, Louzi L

The Pan African medical journal 2017; (26()):197 doi:10.11604/pamj.2017.26.197.12271.

A surgeon's nightmare: pyoderma gangrenosum with pathergy effect mimicking necrotising fasciitis.

Slocum AMY

BMJ case reports 2017; (2017()) doi:10.1136/bcr-2017-222145.

[What's new in clinical dermatology?]

Lok C

Annales de dermatologie et de venereologie 2016; (143 Suppl 3()):S1-S10 doi:10.1016/S0151-9638(18)30043-7.

[Familial Mediterranean fever].

Georgin-Lavialle S, Hentgen V, Stankovic Stojanovic K, et al.

La Revue de medecine interne 2018; (39(4)):240-255 doi:10.1016/j.revmed.2018.02.005.

Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome.

Mistry P, Carmona-Rivera C, Ombrello AK, et al.

Annals of the rheumatic diseases 2018; (77(12)):1825-1833 doi:10.1136/annrheumdis-2018-213746.

Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature.

Martinez-Rios C, Jariwala MP, Highmore K, et al.

Pediatric radiology 2019; (49(1)):23-36 doi:10.1007/s00247-018-4246-1.

PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report.

Maggio MC, Ceccherini I, Grossi A, et al.

Italian journal of pediatrics 2019; (45(1)):111 doi:10.1186/s13052-019-0705-z.

FMF is not always "fever": from clinical presentation to "treat to target".

Maggio MC, Corsello G

Italian journal of pediatrics 2020; (46(1)):7 doi:10.1186/s13052-019-0766-z.

A Wound Care Specialist's Approach to Pyoderma Gangrenosum.

Croitoru D, Naderi-Azad S, Sachdeva M, et al.

Advances in wound care 2020; (9(12)):686-694 doi:10.1089/wound.2020.1168.

Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.

Boursier G, Piram M, Rittore C, et al.

The Journal of investigative dermatology 2021; (141(5)):1141-1147 doi:10.1016/j.jid.2020.08.028.

[Targeted therapy of pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome (PAPA): a case report and literature review].

Liang WL, Li HG, Zhong G, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2020; (58(12)):977-981 doi:10.3760/cma.j.cn112140-20200430-00456.

Ancient friends, revisited: Systematic review and case report of pyoderma gangrenosum-associated autoinflammatory syndromes.

Saternus R, Schwingel J, Müller CSL, et al.

Journal of translational autoimmunity 2020; (3()):100071 doi:10.1016/j.jtauto.2020.100071.

Rare Case of Pyoderma Gangrenosum in the Setting of PAPA Syndrome in a 12-Year-Old Child.

Alhumam A

The international journal of lower extremity wounds 2023; (22(3)):620-624 doi:10.1177/15347346211036023.

Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome in a Chinese family: A case report and review of literature.

Lu LY, Tang XY, Luo GJ, et al.

World journal of clinical cases 2021; (9(22)):6393-6402 doi:10.12998/wjcc.v9.i22.6393.

Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.

Stone DL, Ombrello A, Arostegui JI, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2022; (74(2)):353-357 doi:10.1002/art.41976.

Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome.

Zhang D, Su G, Liu Y, Lai J

Pediatric rheumatology online journal 2021; (19(1)):151 doi:10.1186/s12969-021-00636-9.

Case Report: Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne: A Single-Center Experience and Literature Review.

Wang Y, Wu N, Yu K, Shen M

Frontiers in immunology 2021; (12()):735851 doi:10.3389/fimmu.2021.735851.

Clinical and Genetic Findings of the First Report of PAPA Syndrome in Brazil.

Fernandes SJ, Valdomir Nadaf MI, Monteiro NH, et al.

Case reports in immunology 2021; (2021()):6660937 doi:10.1155/2021/6660937.

Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation.

Marzano AV, Genovese G, Moltrasio C, et al.

Dermatology (Basel, Switzerland) 2022; (238(5)):860-869 doi:10.1159/000521263.

Pyoderma Gangrenosum, Acne, and Hidradenitis Suppurativa Syndrome: A Case Report and Literature Review.

Huang J, Tsang LS, Shi W, Li J

Frontiers in medicine 2022; (9()):856786 doi:10.3389/fmed.2022.856786.

Management of Idiopathic Pyoderma Gangrenosum With Azathioprine As the Primary Adjunct in an Asian Man: A Case Report.

Nazir A, Zafar A

Cureus 2022; (14(5)):e25177 doi:10.7759/cureus.25177.

Perforator propeller flap for coverage of Achilles region defects caused by pyoderma gangrenosum.

Fong CW, Bento M, Fang FJ, et al.

JPRAS open 2022; (33()):139-144 doi:10.1016/j.jpra.2022.06.008.

Not easy-peasy to diagnose: familial Mediterranean fever unaccompanied by fever.

Arık SD, Kayaalp GK, Guliyeva V, et al.

European journal of pediatrics 2023; (182(9)):3983-3988 doi:10.1007/s00431-023-05061-6.

PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review.

Mejbri M, Renella R, Candotti F, et al.

Genes 2023; (14(8)) doi:10.3390/genes14081655.

Isotretinoin-associated acne fulminans: A multicentre, retrospective study of the European Academy of Dermatology and Venereology Task Force on Acne, Rosacea and Hidradenitis Suppurativa.

Dessinioti C, Dréno B, Bettoli V, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2024; (38(1)):197-204 doi:10.1111/jdv.19477.

PAPA Syndrome: Challenges in Achieving Long-Term Remission.

Smajlović H, Prohić A

Acta dermatovenerologica Croatica : ADC 2023; (31(2)):106-109.

Wound Debridement in Pyoderma Gangrenosum.

Taheri A, Mansoori P, Sharif M

Advances in skin & wound care 2024; (37(2)):107-111 doi:10.1097/ASW.0000000000000092.

Postsurgical Pyoderma Gangrenosum Requiring Plastic Surgical Intervention: A Practical Review.

Guliyeva G, Janis JE

Plastic and reconstructive surgery. Global open 2024; (12(1)):e5505 doi:10.1097/GOX.0000000000005505.

Efficacy and safety of anakinra and canakinumab in PSTPIP1-associated inflammatory diseases: a comprehensive scoping review.

Sanz-Cabanillas JL, Gómez-García F, Gómez-Arias PJ, et al.

Frontiers in immunology 2023; (14()):1339337 doi:10.3389/fimmu.2023.1339337.

Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne.

Lee W, Stone DL, Hoffmann P, et al.

Annals of the rheumatic diseases 2024; (83(6)):787-798 doi:10.1136/ard-2023-225085.

Pathophysiology and Evolving Treatment Options of Septic Arthritis: A Narrative Review.

Kaye AD, Greene D, Alvarez-Amado AV, et al.

Cureus 2024; (16(7)):e65883 doi:10.7759/cureus.65883.

Aetiology and Management of Acute Septic Arthritis and Prosthetic Joint Infection Presentations to Orthopaedics: An Evaluation of Tertiary Centre Performance.

Finlayson CR, Hansen NM, Stewart S, Smith M

Cureus 2026; (18(5)):e108830 doi:10.7759/cureus.108830.

A de novo heterozygous PSTPIP1 variant associated with PAPA syndrome: a Chinese case report and literature review.

Wang M, Zhang P, Shen M

Frontiers in genetics 2026; (17()):1825761 doi:10.3389/fgene.2026.1825761.

A protracted diagnostic journey of pediatric PAPA syndrome and subsequent response to tofacitinib therapy: a case report and literature review.

He S, Deng H, Yang J, Jiang W

Frontiers in immunology 2026; (17()):1870454 doi:10.3389/fimmu.2026.1870454.

Biologic-biologic and biologic-JAK inhibitor combination therapy in refractory systemic autoinflammatory diseases.

Tufan A, Stone DL, Romeo T, et al.

Seminars in arthritis and rheumatism 2026; (80()):153067 doi:10.1016/j.semarthrit.2026.153067.