Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)-a new autoinflammatory syndrome distinct from PAPA syndrome

Journal of the American Academy of Dermatology

Volumn 66, Issue 3, 2012, Pages 409-415

  Braun Falco, Markus ^a   Kovnerystyy, Oleksandr ^a   Lohse, Peter ^a   Ruzicka, Thomas ^a  

^a UNIVERSITY OF MUNICH   (Germany)

Author keywords

CD2 binding protein 1 proline serine threonine phosphatase interactive protein 1; inflammatory skin disease; interleukin 1 receptor antagonist; interleukin 1 ; neutrophilic dermatitis; pyogenic arthritis

Indexed keywords

AZATHIOPRINE; CYCLOSPORIN; INTERLEUKIN 1BETA; ISOTRETINOIN; PREDNISOLONE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; TACROLIMUS;

ACNE; ACNE CONGLOBATA; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; GENE; HUMAN; MALE; MEFV GENE; MICROSATELLITE MARKER; MUTATION; NLRP3 GENE; PAPA SYNDROME; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROMOTER REGION; PYODERMA GANGRENOSUM; PYODERMA GANGRENOSUM, ACNE AND SUPPURATIVE HIDRADENITIS; SUPPURATIVE HIDRADENITIS; TNFRSF1A GENE; TREATMENT RESPONSE;

ACNE VULGARIS; ADULT; ARTHRITIS, INFECTIOUS; AUTOIMMUNE DISEASES; DIAGNOSIS, DIFFERENTIAL; HIDRADENITIS SUPPURATIVA; HUMANS; MALE; PYODERMA GANGRENOSUM; SYNDROME;

EID: 84857458569     PISSN: 01909622     EISSN: 10976787     Source Type: Journal    
DOI: 10.1016/j.jaad.2010.12.025     Document Type: Article

References (26)

1. M.F. McDermott, I. Aksentijevich, J. Galon, E.M. McDermott, B.W. Ogunkolade, and M. Centola Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes Cell 87 1999 133 144 (Pubitemid 29165896)
2. D.L. Kastner, I. Aksentijevich, and R. Goldbach-Mansky Autoinflammatory disease reloaded: a clinical perspective Cell 140 2010 784 790
3. R. Goldbach-Mansky, and D.L. Kastner Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illness J Allergy Clin Immunol 124 2009 1141 1149
4. C.A. Wise, J.D. Gillum, C.E. Seidman, N.M. Lindor, R. Veile, and S. Bashiardes Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder Hum Mol Genet 11 2002 961 969 (Pubitemid 34449783)
5. N.M. Lindor, T.M. Arsenault, H. Solomon, C.D. Seidman, and M.T. McEvoy A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome Mayo Clin Proc 72 1997 611 615 (Pubitemid 27330245)
6. C.A. Wise, L.B. Bennett, V. Pascual, J.D. Gillum, and A.M. Bowcock Localization of a gene for familial recurrent arthritis Arthritis Rheum 43 2000 2041 2045
7. H.B. Yeon, N.M. Lindor, J.G. Seidman, and C.E. Seidman Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q Am J Hum Genet 66 2000 1443 1448 (Pubitemid 30468802)
8. E. Cortis, F. De Benedetti, A. Insalaco, F. Cioschi, F. Muratori, and L.E. D'Urbano 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 2004 851 855 (Pubitemid 39586631)
9. M.P. Dierselhuis, J. Frenkel, N.M. Wulffraat, and J.J. Boelens Anakinra for flares of pyogenic arthritis in PAPA syndrome Rheumatology (Oxford) 44 2005 406 408 (Pubitemid 40361307)
10. B. Tallon, and M. Corkill Peculiarities of PAPA syndrome Rheumatology (Oxford) 45 2006 1140 1143 (Pubitemid 44542104)
11. C.N. Renn, A. Helmer, and M. Megahed Pyogenic arthritis, pyoderma gangrenosum and acne syndrome (PAPA syndrome) Hautarzt 58 2007 383 384 (Pubitemid 46739802)
12. M. Brenner, T. Ruzicka, G. Plewig, P. Thomas, and P. Herzer 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 2009 1199 1201
13. J.B. Hong, Y.N. Su, and H.C. Chiu 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 2009 533 535
14. J.C. Jacobs, and E.J. Goetzl "Streaking leukocytes factor," arthritis and pyoderma gangrenosum Paediatrics 56 1975 570 578
15. N.G. Shoham, M. Centola, E. Mansfield, K.M. Hull, G. Wood, and C.A. Wise Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway Proc Natl Acad Sci U S A 100 2003 13501 13506 (Pubitemid 37444771)
16. M.F.J. André, O. Autmaitre, G. Grateau, M. Chamaillard, N. Costedoat-Chalumeau, and M.-C. Cardoso Longest form of CCTG microsatellite repeat in the promoter of the CD2BP1/PSTPIP1 gene is associated with aseptic abscesses and with Crohn disease in French patients Dig Dis Sci 55 2010 1681 1688
17. A. Ah-Weng, J.A.A. Langtry, S. Velangi, C.D. Evans, and W.S. Douglas Pyoderma gangrenosum associated with hidradenitis suppurativa Clin Exp Dermatol 30 2005 669 671 (Pubitemid 41499825)
18. E. Ruocco, S. Sangiuliano, A.G. Gravina, A. Miranda, and G. Nicoletti Pyoderma gangrenosum: an updated review Eur J Acad Dermatol Venereol 23 2009 1008 1017
19. F.C. Powell, A.L. Schroeter, and H.O. Perry Pyoderma gangrenosum: a review of 86 patients Q J Med 217 1985 173 186 (Pubitemid 15047362)
20. J.H. Prystowsky, S.N. Kahn, and G.S. Lazarus Present status of pyoderma gangrenosum: review of 21 cases Arch Dermatol 125 1989 57 64 (Pubitemid 19032859)
21. I.A. Rosner, C.G. Burg, J.J. Wisnieski, B.Z. Schacter, and D.E. Richter The clinical spectrum of the arthropathy associated with hidradenitis suppurativa and acne conglobata J Rheumatol 20 1993 684 687 (Pubitemid 23138859)
22. H.H. Van der Zee, C.J. van der Woude, E.F. Florencia, and E.P. Prens Hidradenitis suppurativa and inflammatory bowel disease: are they associated? Results of a pilot study Br J Dermatol 162 2010 195 197
23. D. Nassar, J.P. Hugot, P. Wolkenstein, and J. Revuz Lack of association between CARD15 gene polymorphisms and hidradenitis suppurativa: a pilot study Dermatology 215 2007 359 (Pubitemid 47519268)
24. A.F. Edrees, D.L. Kaplan, and N.I. Abdou Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) associated with hypogammaglobulinemia and elevated serum tumor necrosis factor-alpha levels J Clin Rheumatol 8 2002 273 275
25. D.S. Stichweh, M. Punaro, and V. Pascual Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome Pediatr Dermatol 22 2005 262 265 (Pubitemid 40741268)
26. A. Grant, T. Gonzalez, M.O. Montgomery, V. Cardenas, and F.A. Kerdel Infliximab therapy for patients with moderate to severe hidradenitis suppurativa: a randomized, double-blind, placebo-controlled crossover trial J Am Acad Dermatol 62 2010 205 217