PSTPIP1 gene mutation in a pyoderma gangrenosum, acne and suppurative hidradenitis (PASH) syndrome

British Journal of Dermatology

Volumn 175, Issue 1, 2016, Pages 194-198

  Calderon Castrat X ^a   Bancalari Diaz D ^a   Roman Curto C ^a   Romo Melgar, A ^a   Amoros Cerdan D ^b   Alcaraz Mas, L A ^b   Fernandez Lopez E ^a   Canueto J ^a  

^a HOSPITAL UNIVERSITARIO DE SALAMANCA   (Spain)

^b Bioarray SL Laboratorio de Diagnóstico Genético   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CLOBETASOL PROPIONATE; PREDNISONE;

ACNE; ADULT; CASE REPORT; DISEASE SEVERITY; GENE; GENE MUTATION; HUMAN; INFLAMMATORY INFILTRATE; LETTER; MALE; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR DYNAMICS; PRIORITY JOURNAL; PSTPIP 1 GENE; PYODERMA GANGRENOSUM; PYODERMA GANGRENOSUM ACNE AND SUPPURATIVE HIDRADENITIS SYNDROME; REMISSION; RHEUMATIC DISEASE; SCAR; SEQUENCE ANALYSIS; SKIN DISEASE; SUPPURATIVE HIDRADENITIS; TREATMENT OUTCOME;

EID: 84983000365     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.14383     Document Type: Letter

References (15)

1. Braun-Falco M, Kovnerystyy O, Lohse P, Ruzicka T. Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) – a new autoinflammatory syndrome distinct from PAPA syndrome. J Am Acad Dermatol 2012; 66:409–15.
2. Masters SL, Simon A, Aksentijevich I et al. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol 2009; 27:621–68.
3. Starnes TW, Bennin DA, Bing X et al. F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages. Blood 2014; 123:2703–14.
4. Strowig T, Henao-Mejia J, Elinav E et al. Inflammasomes in health and disease. Nature 2012; 481:278–86.
5. Marzano AV, Ceccherini I, Gattorno M et al. Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory disease. Medicine 2014; 93:e187.
6. Duchatelet S, Miskinyte S, Join-Lambert O et al. First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome. Br J Dermatol 2015; 173:610–12.
7. Yang JQ, Wu XJ, Dou TT et al. Haploinsufficiency caused by a nonsense mutation in NCSTN underlying hidradenitis suppurativa in a Chinese family. Clin Exp Dermatol 2015; 40:916–19.
8. Rusmini M, Federici S, Caroli F et al. Next-generation sequencing and its initial applications for molecular diagnosis of systemic autoinflammatory diseases. Ann Rheum Dis 2015; 1–8. DOI: 10.1136/annrheumdis-2015-207701.
9. Marzano AV, Trevisan V, Gattorno M et al. Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene. JAMA Dermatol 2013; 149:762–4.
10. Saraceno R, Babino G, Chiricozzi A et al. PsAPASH: a new syndrome associated with hidradenitis suppurativa with response to tumor necrosis factor inhibition. J Am Acad Dermatol 2015; 72:e42–4.
11. Bruzzese V. Pyoderma gangrenosum, acne conglobata, suppurative hidradenitis, and axial spondyloarthritis – efficacy of anti-tumor necrosis factor α therapy. J Clin Rheumatol 2012; 18:413–15.
12. Zeeli T, Padalon-Brauch G, Ellenbogen E et al. Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene. Clin Exp Dermatol 2015; 40:367–72.
13. Marzano AV, Ishak RS, Colombo A et al. Pyoderma gangrenosum, acne and suppurative hidradenitis syndrome following bowel bypass surgery. Dermatology 2012; 225:215–19.
14. Staub J, Pfannschmidt N, Strohal R et al. Successful treatment of PASH syndrome with infliximab, cyclosporine and dapsone. J Eur Acad Dermatol Venereol 2015; 29:2243–7.
15. Murphy B, Morrison G, Podmore P. Successful use of adalimumab to treat pyoderma gangrenosum, acne and suppurative hidradenitis (PASH syndrome) following colectomy in ulcerative colitis. Int J Colorectal Dis 2015; 30:1139–40.