Pyogenic Arthritis, Pyoderma Gangrenosum, Acne, and Hidradenitis Suppurativa (PAPASH): A New Autoinflammatory Syndrome Associated With a Novel Mutation of the PSTPIP1 Gene

Marzano, Angelo Valerio; Trevisan, Valentina; Gattorno, Marco; Ceccherini, Isabella; Simone, Clara De; Crosti, C.

doi:10.1001/jamadermatol.2013.2907

Cited by 181 publications

(152 citation statements)

References 3 publications

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“…PASS has been recently reported in the literature as a new clinical entity characterized by pyoderma gangrenosum, acne vulgaris, hidradenitis suppurativa and ankylosing spondylitis [4]. Clinically this syndrome is distinct from the PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum and acne) and the PAPASH syndrome (pyogenic arthritis, pyoderma gangrenosum, acne and hidradenitis suppurativa) because of the presence of a nonpyogenic joint involvement [5]. Also a PASH syndrome (pyoderma gangrenosum, acne and suppurative hidradenitis) is excluded as it does not have joint involvement.…”

Section: Discussionmentioning

confidence: 99%

PASS Syndrome: An IL-1-Driven Autoinflammatory Disease

Leuenberger

Berner²,

J³

et al. 2016

Dermatology

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PASS syndrome is a rare inflammatory disease characterized by a chronic-relapsing course of pyoderma gangrenosum, acne vulgaris, hidradenitis suppurativa and ankylosing spondylitis. Here, we describe a case of a patient with spontaneously recurrent purulent skin lesions along with seronegative spondylarthritis consistent with the PASS syndrome. During his disease exacerbation, the patient displayed episodes of fever along with elevated serum levels of interleukin (IL)-1β. Skin lesions were characterized by sterile neutrophilic infiltrates and showed a rapid response to the IL-1 receptor antagonist anakinra (Kineret®) consistent with the autoinflammatory nature of this disease. However, unlike other autoinflammatory diseases such as PAPA and PAPASH, we did not find mutations in the gene PSTPIP1, raising the possibility that other specific mutations in the IL-1 pathway may be involved.

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Section: Discussionmentioning

confidence: 99%

PASS Syndrome: An IL-1-Driven Autoinflammatory Disease

Leuenberger

Berner²,

J³

et al. 2016

Dermatology

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“…[77][78][79] The PSTPIP-1 gene is also involved in multiple PG-associated syndromes. PAPASH syndrome, described by Marzano et al, 80 characterizes a tetrad of pyogenic sterile arthritis, PG, acne, and hidradenitis suppurativa as a result of an E277D missense mutation in the PSTPIP-1 gene. 81 PASH syndrome (a compilation of PG, acne, and suppurative hidradenitis) arises from an increased CCTG microsatellite repeat in the promoter region of PSTPIP-1.…”

Section: Role Of Geneticsmentioning

confidence: 99%

Pathophysiology of pyoderma gangrenosum (PG): An updated review

Braswell

Kostopoulos

Ortega‐Loayza

2015

Journal of the American Academy of Dermatology

216

205

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“…Recent studies have revealed a heterozygous missense mutation for c.1213 C > T in the PSTPIP1 gene and an increased number of repetitions of the CCTG microsatellite motif in the in the promoter region of this gene in patients with PASH syndrome [37,39]. Marzano et al also reported a p.E277D missense mutation of the PSTPIP1 gene in a patient with PA-PASH syndrome (associated pyogenic arthritis) [40]. To date, oral PG lesions have not been reported in the context of theses syndromes.…”

Section: Underlying Systemic Diseases Associated With Pgmentioning

confidence: 99%