Coexistence of acne inversa with psoriasis and Dowling-Degos disease harboring impaired PSENEN-Notch signaling

Xiao, Xiuli; Zhou, Pengjun; Zhu, Changhua; Lin, Liwu; Liu, Jingjing; Han, Yue

doi:10.1097/cm9.0000000000001040

Cited by 6 publications

(4 citation statements)

References 5 publications

(8 reference statements)

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“…Although rare, DDD should be considered in the differential diagnosis of patients presenting with 3,5,7,9,10,12,14,17,18,[28][29][30][31][32][33][34][35][36][37][38] 28,31,42 3 66 (64-68) 0 -EIC 11,12 2 54 (49-58) 50 -Fingernail dystrophy 1, 23 2 48 (36-59) 100 -Amelanocytic malignant melanoma 43 1 5 1 0 -Darier disease 44 1 6 2 0 -Eczematous plaques 8 1 9 100 POFTU1 (n = 1) Ichthyosis vulgaris 4 1 2 5 0 -Keratocanthomas*, 33 1 ---Leukoderma 22 1 26 100 -Palmoplantar hyperhydrosis 22 1 26 100 -Palmoplantar keratodema 22 1 26 100 -Pemphigus vulgaris 11 1 5 8 0 -Pilonidal sinus*, 45 1 ---Psoriasis 6 1 53 100 Recurrent medial thigh abscesses 22 1 27 100 -*Age and gender not reported in all cases.…”

Section: Discussionmentioning

confidence: 99%

“…Specifically, mutations in keratin 5 (KRT5), keratin 14, protein O-fucosyltransferase 1 (POFUT1), and presenilin enhancer protein 2 gene (PSENEN) have been observed in affected patients. 2,[5][6][7][8][9][10] The concurrent presentation of DDD and hidradenitis suppurativa (HS) has been well described, with multiple studies demonstrating underlying genetic mutations involved in similar pathways, suggesting these conditions may be etiologically related. Other dermatologic conditions have been less commonly reported in conjunction with DDD, with unknown etiologic associations.…”

Section: Introductionmentioning

confidence: 99%

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Dowling–Degos Disease Presenting With Associated Epidermal Inclusion Cysts: A Case Report and Review of the Literature

Marinelli

Roberts³

et al. 2021

The American Journal of Dermatopathology

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:Dowling–Degos Disease (DDD) is a rare and disfiguring autosomal dominant genodermatosis characterized by reticulate hyperpigmented macules or follicular comedone-like papules in the intertriginous areas that typically presents in the third or fourth decade of life. It is a progressive disease that is often treatment-resistant. Although its association with hidradenitis suppurativa has been well described, DDD has also been less commonly reported in conjunction with other dermatologic diseases with unknown etiologic associations. Herein, we present a case of DDD with associated epidermal inclusion cysts and conduct a literature review of dermatologic conditions reported in association with DDD.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Dowling–Degos Disease Presenting With Associated Epidermal Inclusion Cysts: A Case Report and Review of the Literature

Marinelli

Roberts³

et al. 2021

The American Journal of Dermatopathology

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“…60 In 2 separate case studies of HS and Dowling-Degos disease, a rare autosomal dominant disease characterized by reticulate hyperpigmentation and dark brown papules, mutations in PSENEN were discovered by Sanger sequencing, while another case study reported a mutation in POFUT1. [62][63][64] Marzano et al 27 utilized WES to identify mutations in 10 syndromic HS patients, rather than the targeted panels used in the case studies of the familial and sporadic case studies, and yielded a variety of genes within and outside of the GSC. Genetic variants were discovered in MEVF, PSTPIP1, NLRC4, WDR1, NOD2, OTULIN, NCSTN, and GJB2, which may be attributed to identification by WES, the presence of additional inflammatory disorders, or the polygenic nature of HS.…”

Section: Syndromic Hsmentioning

confidence: 99%

Genetic factors associated with hidradenitis suppurativa, a literature review

Eble,

Wisco,

Boccuto

et al. 2024

International Journal of Women’s Dermatology

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Background: Hidradenitis suppurativa (HS) is a chronic inflammatory disease characterized by deep-seated, painful lesions most frequently occurring in intertriginous areas of the skin. HS leads to poor quality of life in affected individuals and is difficult to diagnose and treat. Objective: Understanding the genetics associated with familial inheritance may lead to a better understanding of the pathogenesis of this debilitating disease. Methods: Articles published until March 9, 2023, were identified in PubMed using the following search terms: hidradenitis suppurativa and gene* or acne inversa and gene*. Results: The rate of monogenic mutations associated with HS is less than 7%, with the most common genetic mutations reported in sporadic and familial HS cases being in NCSTN and less frequently in PSENEN. Individuals with mutations in the gamma-secretase complex tended to have more severe HS and an early age of onset. Limitations: This study was limited to the case studies available in PubMed, the majority of which used targeted gene panels to detect genetic mutations. Conclusion: Approximately 30% of individuals diagnosed with HS report having a positive family history; however, very few studies demonstrate monogenic familial transmission of HS. The case studies of syndromic HS reported a variety of genetic mutations associated with HS, some of which were familial, while others were sporadic, suggesting that other pathways may be involved in the pathogenesis of HS and other potential mutations that have yet to be evaluated. More research is needed to understand the genetic mutations in HS.

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“…Furthermore, several reports suggest that PSENEN mutations are involved in the occurrence and development of hidradenitis suppurativa (HS) and Dowling-Degos disease (DDD). Specifically, Xiao et al (2020) found that PSENEN mutations in patients with HS predispose them to DDD by disrupting Notch signaling. Li et al (2018) observed that the location of PSENEN mutations in patients with HS all occurred in transmembrane regions that are expected to disrupt membrane function.…”

Section: Introductionmentioning

confidence: 99%

Immunological and prognostic analysis of PSENEN in low-grade gliomas: An immune infiltration-related prognostic biomarker

Chen

Liang²,

Ma³

et al. 2022

Front. Mol. Neurosci.

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Metformin is widely used in the treatment of type 2 diabetes (T2D) and plays a role in antitumor and antiobesity processes. A recent study identified its direct molecular target, PEN2 (PSENEN). PSENEN is the minimal subunit of the multiprotein complex γ-secretase, which promotes the differentiation of oligodendrocyte progenitors into astrocytes in the central nervous system. This study was mainly based on gene expression data and clinical data from the TCGA and CGGA databases. Analysis of differential expression of PSENEN between tissues from 31 cancers and paracancerous tissues revealed that it had high expression levels in most cancers except 2 cancers. Using univariate Cox regression analysis and Kaplan-Meier survival analysis, a high expression level of PSENEN was shown to be a risk factor in low-grade gliomas (LGG). Gene ontology (GO) and kyoto encyclopedia of genes and genomes (KEGG) analyses indicated that PSENEN is widely involved in immune-related signaling pathways in LGG. PSENEN expression level was significantly associated with TMB, MSI, tumor stemness index, and the expression levels of immunomodulatory genes in LGG. Finally, immune infiltration analysis revealed that PSENEN level was associated with the presence of various immune infiltrating cells, among which PSENEN was strongly associated with the presence of M2 macrophages and played a synergistic pro-cancer role. In conclusion, PSENEN may partially influence prognosis by modulating immune infiltration in patients with LGG, and PSENEN may be a candidate prognostic biomarker for determining prognosis associated with immune infiltration in LGG.

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Coexistence of acne inversa with psoriasis and Dowling-Degos disease harboring impaired PSENEN-Notch signaling

Cited by 6 publications

References 5 publications

Dowling–Degos Disease Presenting With Associated Epidermal Inclusion Cysts: A Case Report and Review of the Literature

Dowling–Degos Disease Presenting With Associated Epidermal Inclusion Cysts: A Case Report and Review of the Literature

Genetic factors associated with hidradenitis suppurativa, a literature review

Immunological and prognostic analysis of PSENEN in low-grade gliomas: An immune infiltration-related prognostic biomarker

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