A case of myeloperoxidase–antineutrophil cytoplasmic antibody and anticardiolipin antibody-positive pyogenic arthritis, pyoderma gangrenosum, acne and hidradenitis suppurativa (PAPASH) syndrome with colitis

Kawanishi, K; Nishiwaki, Hiroki; Oshiro, Tsuyoshi; Kajitani, Hideto; Amagasa, Masahito; Uehara, Natsumi; Inoue, Yoshio; Nagahama, Masatsugu; Koiwa, Fumihiko

doi:10.1080/24725625.2021.1881216

Cited by 4 publications

(5 citation statements)

References 18 publications

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“…Articular involvement had distinct patterns, being mostly axial and PASS, with other targets in PAPASH or PsAPASH (knee, wrists, elbows, ankles, shoulder, interphalangeal joints). Common biologic signatures were anaemia, elevated inflammatory markers, leucocytosis and anti‐Saccharomyces cerevisiae antibodies, with additional reports of elevated serum amyloid A or hypergammaglobulinemia in PASS and positive perinuclear anti‐neutrophil cytoplasmic antibodies in PAPASH 122,123 . Typically refractory to current treatments, attempts in AIS were heterogenous, but a pattern involved primarily antibiotics, infliximab, adalimumab and corticosteroids, as well as anakinra or dapsone in PAPASH.…”

Section: Resultsmentioning

confidence: 99%

“…Phenotyping in AIS is ill-defined, but despite heterogeneity, there are similar features. For example, HS lesions affected predominantly flexural sites, while PASH, PAPASH 114,116,[119][120][121][122][123][124][125][126] and PASS 120,[127][128][129][130] also exhibited atypical localisations (neck/nape, back, chest, scalp, extremities). Lesions were most frequently abscesses, nodules, fistulae, sinus tracts and scars in PASH and PsAPA-SH, 120,[131][132][133] with no specific patterns for PASS or PAPASH.…”

Section: Syndromic Hidradenitis Suppurativa: a Conundrum In Phenotypi...mentioning

confidence: 99%

“…Common biologic signatures were anaemia, elevated inflammatory markers, leucocytosis and anti-Saccharomyces cerevisiae antibodies, with additional reports of elevated serum amyloid A or hypergammaglobulinemia in PASS and positive perinuclear anti-neutrophil cytoplasmic antibodies in PAPASH. 122,123 Typically refractory to current treatments, attempts in AIS were heterogenous, but a pattern involved primarily antibiotics, infliximab, adalimumab and corticosteroids, as well as anakinra or dapsone in PAPASH. Only one study 120 correlated clinical presentations of PASS, PAPASH or PsAPASH to previously described phenotypes, attributing three patients to LC3 of Canoui-Poitrine et al, while the other three patients expressed features of either LC1 or LC2.…”

Section: Syndromic Hidradenitis Suppurativa: a Conundrum In Phenotypi...mentioning

confidence: 99%

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Hidradenitis suppurativa: Detangling phenotypes and identifying common denominators

Vișan,

Căruntu,

Costache

et al. 2023

Acad Dermatol Venereol

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Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with a severe impact on patients' quality of life through its recurrent and painful nature, as well as its comorbidity burden. The shift in the pathogenic paradigm from a condition of the apocrine glands to an autoinflammatory disease associated with follicular destruction has rendered its understanding difficult, as there are still large gaps in pinpointing the underlying mechanisms, which cannot currently explain the existing clinical variation and as a result, translate into suboptimal therapy. Multifactorial involvement is hypothesized, with an implication of genetic mutations, microbiome dysbiosis, cytokine upregulation and environmental factors. Clinical observation is fundamental for diagnosis, however, the marked heterogeneity in presentation leads to delays in detection and challenges in treatment selection, showcasing clear limits in defining the link between genetic aspects of HS, the role of epigenetic factors and its pathogenic pathways. There have been attempts to formulate phenotypes that could aid in prognostication and management, however, current classification schemata show significant overlap and no validation through longitudinal studies. In this context, nomenclature poses a great challenge due to the lack of global agreement in the definition of lesions, which should be addressed by future research to enable simplified recognition and allow for more precise severity scoring. This could be complemented by the addition of extra dermatologic findings or paraclinical assessment in constructing phenotypes. The development of valid, predictive and reliable classifications of HS may lead to an improvement in comprehending its pathophysiology, favouring a more personalized approach in management. This could be achieved through consensus in the characterization of clinical features and data gathering, as well as validation attempts for described phenotypes. Ultimately, the genotype‐endotype‐phenotype correlation in HS requires targeted, systematic inquiries and should be addressed more largely to broaden the perspective on this debilitating entity.

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Section: Resultsmentioning

confidence: 99%

Section: Syndromic Hidradenitis Suppurativa: a Conundrum In Phenotypi...mentioning

confidence: 99%

Section: Syndromic Hidradenitis Suppurativa: a Conundrum In Phenotypi...mentioning

confidence: 99%

See 1 more Smart Citation

Hidradenitis suppurativa: Detangling phenotypes and identifying common denominators

Vișan,

Căruntu,

Costache

et al. 2023

Acad Dermatol Venereol

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“…Two missense mutations (E277D and E250Q) in PSTPIP1 have been identified in two out of the eight reported PAPASH cases. [90][91][92] Interestingly, while E277D has not been observed to overlap with other diseases, E250Q is one of the two most common mutations of PSTPIP1 found in PAPA syndrome (A230T and E250Q), which suggests that PAPASH syndrome is a spectrum of PAPA syndrome.…”

Section: Identified Gene Mutation and Pathophysiology Of Papash Syndromementioning

confidence: 97%

“…The average age of onset for acne is 15 years, with an average diagnostic age of 31 years (ranging from 16 to 44 years) 88 . Inflammatory colitis has been associated with PAPASH syndrome in two reported cases 89,90 …”

Section: Papash Syndromementioning

confidence: 99%

Genetic mutations in pyoderma gangrenosum, hidradenitis suppurativa, and associated autoinflammatory syndromes: Insights into pathogenic mechanisms and shared pathways

Satoh

2023

The Journal of Dermatology

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Pyoderma gangrenosum (PG), hidradenitis suppurativa (HS), and the associated autoinflammatory syndromes, including pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome, PSTPIP1‐associated myeloid‐related proteinemia inflammatory (PAMI) syndrome, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH) syndrome, and pyogenic arthritis, pyoderma gangrenosum, acne, and suppurative hidradenitis (PAPASH) syndrome are dermatological conditions characterized by chronic inflammation and tissue damage. Recent advances in genetic research have identified specific mutations associated with these disorders, shedding light on their underlying pathogenic mechanisms. This review aims to summarize the current knowledge of identified mutations and presumed pathophysiology in PG, HS, and the associated autoinflammatory syndromes.

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Hidradenitis Suppurativa-Related Autoinflammatory Syndromes

Maronese,

Moltrasio,

Marzano

2024

Dermatologic Clinics

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A case of myeloperoxidase–antineutrophil cytoplasmic antibody and anticardiolipin antibody-positive pyogenic arthritis, pyoderma gangrenosum, acne and hidradenitis suppurativa (PAPASH) syndrome with colitis

Cited by 4 publications

References 18 publications

Hidradenitis suppurativa: Detangling phenotypes and identifying common denominators

Hidradenitis suppurativa: Detangling phenotypes and identifying common denominators

Genetic mutations in pyoderma gangrenosum, hidradenitis suppurativa, and associated autoinflammatory syndromes: Insights into pathogenic mechanisms and shared pathways

Hidradenitis Suppurativa-Related Autoinflammatory Syndromes

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