<i>
              <scp>PSTPIP</scp>
              1
            </i>
            gene mutation in a pyoderma gangrenosum, acne and suppurative hidradenitis (
            <scp>PASH</scp>
            ) syndrome

Calderón-Castrat, Ximena; Bancalari‐Díaz, D.; Román-Curto, Concépción; Romo-Melgar, Alberto; Amorós‐Cerdán, D.; Alcaraz‐Mas, L.A.; Fernández‐López, Emilia; Cañueto, Javier

doi:10.1111/bjd.14383

Cited by 71 publications

(57 citation statements)

References 16 publications

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“…In contrast to PAPA syndrome, the levels are only elevated in the skin and not in peripheral blood, indicating a predilection of the skin in PASH syndrome . Mutations in the coding region of PSTPIP1 have not been identified in PASH patients until recently, when a potential pathogenic PSTPIP1 mutation was observed in a patient with PASH . However, an increased number of CCTG repeats in the PSTPIP1 promoter region seem to be a consistent finding in PASH patients .…”

Section: Pashmentioning

confidence: 93%

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Autoinflammatory syndromes associated with hidradenitis suppurativa and/or acne

2017

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Autoinflammatory syndromes associated with hidradenitis suppurativa (HS) and/or acne are rare but potentially debilitating disorders if not diagnosed and treated correctly. They share a common pathogenesis involving a dysregulated innate immune system with abnormal interleukin (IL)-1 signaling leading to sterile neutrophilic inflammation. The clinical features are recurrent episodes of fever, painful arthritis, and skin lesions consistent with HS, acne, and pyoderma gangrenosum (PG) accompanied by elevated systemic inflammatory markers in blood. So far, several clinically different syndromes have been reported in the literature including pyoderma gangrenosum, acne, and pyogenic arthritis (PAPA), pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH), pyoderma gangrenosum, acne, and spondyloarthritis (PASS), pyoderma gangrenosum, acne, pyogenic arthritis, and hidradenitis suppurativa (PAPASH), psoriatic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PsAPASH), and pyoderma gangrenosum, acne, and ulcerative colitis (PAC). The rarity of the syndromes complicates the establishment of evidence-based treatment guidelines. Furthermore, treatment can be challenging due to lack of response to standard treatment modalities. Therefore, it is important to increase the awareness about these diseases in order to optimize disease management and ultimately improve the quality of life of patients.

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Section: Pashmentioning

confidence: 93%

“…named the syndromic triad of PG, acne, and HS, PASH syndrome (Table ) . Until now, only 14 cases of PASH syndrome have been reported in literature, however, the coexistence of HS, PG, and acne have been observed earlier by Hsiao et al ., suggesting that it might be more prevalent than assumed …”

Section: Pashmentioning

confidence: 99%

Autoinflammatory syndromes associated with hidradenitis suppurativa and/or acne

2017

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“…It was first described in two patients presenting both pyoderma gangrenosum and acne without suffering from pyogenic arthritis (Braun-Falco et al, 2012). The genetic background of PASH syndrome is very heterogeneous; the absence of a PSTPIP1 gene mutation was first reported, however, researchers recently found a PSTPIP1 gene mutation in a PASH patient (Calderon-Castrat et al, 2016). Moreover, mutations in other genes involved in this autoinflammatory disease including NLRP3, MEFV, NOD2 , and NCSTN have also been described in PASH (Marzano et al, 2014a; Duchatelet et al, 2015).…”

Section: Skin Diseases With Il-1 Involvementmentioning

confidence: 99%

Potential of IL-1, IL-18 and Inflammasome Inhibition for the Treatment of Inflammatory Skin Diseases

2017

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In 2002, intracellular protein complexes known as the inflammasomes were discovered and were shown to have a crucial role in the sensing of intracellular pathogen- and danger-associated molecular patterns (PAMPs and DAMPs). Activation of the inflammasomes results in the processing and subsequent secretion of the pro-inflammatory cytokines IL-1β and IL-18. Several autoinflammatory disorders such as cryopyrin-associated periodic syndromes and Familial Mediterranean Fever have been associated with mutations of genes encoding inflammasome components. Moreover, the importance of IL-1 has been reported for an increasing number of autoinflammatory skin diseases including but not limited to deficiency of IL-1 receptor antagonist, mevalonate kinase deficiency and PAPA syndrome. Recent findings have revealed that excessive IL-1 release induced by harmful stimuli likely contributes to the pathogenesis of common dermatological diseases such as acne vulgaris or seborrheic dermatitis. A key pathogenic feature of these diseases is IL-1β-induced neutrophil recruitment to the skin. IL-1β blockade may therefore represent a promising therapeutic approach. Several case reports and clinical trials have demonstrated the efficacy of IL-1 inhibition in the treatment of these skin disorders. Next to the recombinant IL-1 receptor antagonist (IL-1Ra) Anakinra and the soluble decoy Rilonacept, the anti-IL-1α monoclonal antibody MABp1 and anti-IL-1β Canakinumab but also Gevokizumab, LY2189102 and P2D7KK, offer valid alternatives to target IL-1. Although less thoroughly investigated, an involvement of IL-18 in the development of cutaneous inflammatory disorders is also suspected. The present review describes the role of IL-1 in diseases with skin involvement and gives an overview of the relevant studies discussing the therapeutic potential of modulating the secretion and activity of IL-1 and IL-18 in such diseases.

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“…The PASH triad is composed of PG, acne, and suppurative hidradenitis. 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].…”

Section: Underlying Systemic Diseases Associated With Pgmentioning

confidence: 99%