Autoinflammatory Keratinization Diseases

Peña-Rosado, A.; Riera-Martí, Núria; Expósito‐Serrano, V.; Romaní, Jorge

doi:10.1016/j.adengl.2021.09.005

Cited by 2 publications

(3 citation statements)

References 32 publications

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“…Interestingly cytokines' dysfunctional activation also de‐regulates keratinization processes, and this concept sustains the ‘autoinflammatory keratinization disease’ HS pathogenesis 71 . Inflammation in the epidermis and upper dermis leads to hyperkeratosis.…”

Section: Discussionmentioning

confidence: 85%

“…Interestingly cytokines' dysfunctional activation also deregulates keratinization processes, and this concept sustains the 'autoinflammatory keratinization disease' HS pathogenesis. 71 Inflammation in the epidermis and upper dermis leads to hyperkeratosis. It has been suggested that F I G U R E 3 STRING protein-protein interaction networks for the differently methylated cytokine genes in HS.…”

Section: Hs Is An Autoinflammatory Condition Involving Keratinizationmentioning

confidence: 99%

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Hidradenitis suppurativa presents a methylome dysregulation capable to explain the pro‐inflammatory microenvironment: Are theseDNAmethylations potential therapeutic targets?

Radhakrishna

Uppala

Jhala

et al. 2023

Acad Dermatol Venereol

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BackgroundHidradenitis suppurativa (HS) is a chronic, systemic, inflammatory skin condition with elusive pathogenesis that affects therapeutic intervention directly.ObjectiveTo characterize epigenetic variations in cytokines genes contributing to HS.MethodsEpigenome‐wide DNA methylation profiling with the Illumina Epic array was performed on blood DNA samples from 24 HS patients and 24 age‐ and sex‐matched controls to explore DNA methylation changes in cytokine genes.ResultsWe identified 170 cytokine genes including 27 hypermethylated CpG sites and 143 genes with hypomethylated sites respectively. Hypermethylated genes, including LIF, HLA‐DRB1, HLA‐G, MTOR, FADD, TGFB3, MALAT1 and CCL28; hypomethylated genes, including NCSTN, SMAD3, IGF1R, IL1F9, NOD2, NOD1, YY1, DLL1 and BCL2 may contribute to the pathogenesis of HS. These genes were enriched in the 117 different pathways (FDR p‐values ≤ 0.05), including IL‐4/IL‐13 pathways and Wnt/β‐catenin signalling.ConclusionsThe lack of wound healing, microbiome dysbiosis and increased tumour susceptibility are all sustained by these dysfunctional methylomes, hopefully, capable to be targeted in the next future. Since methylome describes and summarizes genetic and environmental contributions, these data may represent a further step towards a feasible precision medicine also for HS patients.

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Section: Discussionmentioning

confidence: 85%

Section: Hs Is An Autoinflammatory Condition Involving Keratinizationmentioning

confidence: 99%

Hidradenitis suppurativa presents a methylome dysregulation capable to explain the pro‐inflammatory microenvironment: Are theseDNAmethylations potential therapeutic targets?

Radhakrishna

Uppala

Jhala

et al. 2023

Acad Dermatol Venereol

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“…4 CARD14 variants are seen as a predisposing factor to autoinflammatory keratinization, as seen in juvenile PRP. [4][5][6] Here, we report the successful treatment with ustekinumab in a juvenile PRP patient without CARD14 mutation, proposing to overthink the potential range of indication.…”

mentioning

confidence: 95%

Successful treatment of CARD14‐negative juvenile Pityriasis rubra pilaris with Ustekinumab

Reitmajer,

Forchhammer,

Silber

2023

Acad Dermatol Venereol

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Dear Editor, Juvenile Pityriasis rubra pilaris (PRP) is an orphan disease without established efficient treatment options. Interleukin-17 inhibitors and ustekinumab, a combined interleukin-12 and interleukin-23 inhibitor, have shown promising results in several case reports. [1][2][3] In particular, ustekinumab is emerging as a potential first-line treatment for the subgroup of patients with CARD14 variants. 4 CARD14 variants are seen as a predisposing factor to autoinflammatory keratinization, as seen in juvenile PRP. [4][5][6] Here, we report the successful treatment with ustekinumab in a juvenile PRP patient without CARD14 mutation, proposing to overthink the potential range of indication.

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Autoinflammatory Keratinization Diseases

Cited by 2 publications

References 32 publications

Hidradenitis suppurativa presents a methylome dysregulation capable to explain the pro‐inflammatory microenvironment: Are theseDNAmethylations potential therapeutic targets?

Hidradenitis suppurativa presents a methylome dysregulation capable to explain the pro‐inflammatory microenvironment: Are theseDNAmethylations potential therapeutic targets?

Successful treatment of CARD14‐negative juvenile Pityriasis rubra pilaris with Ustekinumab

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