A case of PAPASH syndrome in a young man carrying a novel heterozygote missense variant in <i>PSTPIP1</i>

Kotzerke, Mareike; Mitri, Fouad; Marbach, Felix; Enk, Alexander; Haenssle, Holger A.

doi:10.1111/jdv.17171

Cited by 5 publications

(2 citation statements)

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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: 98%

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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Section: Identified Gene Mutation and Pathophysiology Of Papash Syndromementioning

confidence: 98%

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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“…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%

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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Hidradenitis Suppurativa-Related Autoinflammatory Syndromes

Maronese,

Moltrasio,

Marzano

2024

Dermatologic Clinics

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A case of PAPASH syndrome in a young man carrying a novel heterozygote missense variant in PSTPIP1

Cited by 5 publications

References 10 publications

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

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

Hidradenitis suppurativa: Detangling phenotypes and identifying common denominators

Hidradenitis Suppurativa-Related Autoinflammatory Syndromes

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