White Sponge Nevus Caused by Keratin 4 Gene Mutation: A Case Report

Qiao, Yahui; Liu, Binjie; Bai, Ruiqi; Cai, Jingwen; Peng, Qian

doi:10.3390/genes13122184

Cited by 3 publications

(3 citation statements)

References 35 publications

(48 reference statements)

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“…Table 7 shows the drug terms and associated genes obtained from Enrichr. Retinoic acid has been reported to be effective as a topical treatment in OLP [52, 53]. Oral treatment of tretinoin (a generic name of Vitinoin) has been reported to be effective in treating LP [36].…”

Section: Resultsmentioning

confidence: 99%

GENEvaRX: A Novel AI-Driven Method and Web Tool Can Identify Critical Genes and Effective Drugs for Lichen Planus

Turki

Taguchi

2023

Preprint

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Lichen planus (LP) is an autoimmune disorder diagnosed based on physical symptoms and lab tests. Examples of symptoms include flat bumps, and itchy and purplish skin, while lab tests include a shave biopsy of the lesion. When the pathology report shows consistency with LP and is negative for potential triggers for an allergy test and hepatitis C, a dermatologist typically prescribes corticosteroid in the form of pills or injection into the lesion to treat the symptoms. To understand the molecular mechanism of the disease and thereby overcome issues associated with disease treatment, there is a need to identify potential effective drugs, drug targets, and therapeutic targets associated the LP. Hence, we propose a novel computational framework based on new constrained optimization to support vector machines coupled with enrichment analysis. First, we downloaded three gene expression datasets (GSE63741, GSE193351, GSE52130) pertaining to healthy and LP patients from the gene expression omnibus (GEO) database. We then processed each dataset and entered it into our computational framework to select important genes. Finally, we performed enrichment analysis of selected genes, reporting the following results. Our methods outperformed baseline methods in terms of identifying disease and skin tissue. Moreover, we report 5 drugs (including, dexamethasone, retinoic acid, and quercetin), 45 unique genes (including PSMB8, KRT31, KRT16, KRT19, KRT17, COL3A1, LCE2D, LCE2A), and 23 unique TFs (including NFKB1, STAT1, STAT3) reportedly related to LP pathogenesis, treatments, and therapeutic targets. Our methods are publicly available in the GENEvaRX web server at https://aibio.shinyapps.io/GENEvaRX/.

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Section: Resultsmentioning

confidence: 99%

GENEvaRX: A Novel AI-Driven Method and Web Tool Can Identify Critical Genes and Effective Drugs for Lichen Planus

Turki

Taguchi

2023

Preprint

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“…In fact, CK13 is typically expressed by this tissue, and plays a role in maintaining the homeostasis of the different strata of the epithelium. Its alterations are associated with the presence of different types of disfunctions of the human oral mucosa epithelium (Qiao et al, 2022). Similarly, CK17 is normally found in the oral mucosa epithelium, and its overexpression and dysregulation has been described as a diagnostic marker of several diseases, including the oral squamous cell carcinoma (Kitamura et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

Histological characterization of the human masticatory oral mucosa. A histochemical and immunohistochemical study

Ibáñez‐Cortés,

Martín‐Piedra,

Blanco‐Elices

et al. 2023

Microscopy Res & Technique

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BackgroundHistology of human oral mucosa is closely related with its function and anatomical location, and a proper characterization of the human masticatory oral mucosa could be very useful in periodontal pathology.ObjectiveIn the present work, we have carried out a comprehensive study in order to determine the main histological features of parakeratinized (POM) and orthokeratinized (OOM) masticatory human oral mucosa using light and electron microscopy.MethodsTo perform this, we have used several histological, histochemical and immunohistochemical methods to detect key markets at the epithelial, basement membrane and connective tissue levels.ResultsOur results demonstrated that POM and OOM share many histological similarities, as expected. However, important differences were observed at the epithelial layer of POM, that was significantly thicker than the epithelial layer found in OOM, especially due to a higher number of cells at the stratum spinosum. The expression pattern of CK10 and filaggrin revealed intense signal expression in OOM as compared to POM. Collagen and proteoglycans were more abundant in OOM stroma than in POM. No differences were found for blood vessels and basement membrane.ConclusionThese results may contribute to a better understanding of the pathological conditions affecting the human masticatory oral mucosa. In addition, these findings could be useful for the generation of different types of oral mucosa by tissue engineering techniques.Research highlights Microscopical features of parakeratinized and orthokeratinized masticatory human oral mucosa showed important differences at both, epithelial and stromal levels. Parakeratinized masticatory human oral mucosa exert thicker epithelial layer, especially, at the stratum spinosum in comparison to orthokeratinized human oral mucosa. Cytokeratin 10 and filaggrin human epithelial markers were intensively expressed in orthokeratinized masticatory human oral mucosa in comparison to parakeratinized masticatory human oral mucosa. At the stromal level, orthokeratinized masticatory human oral mucosa exhibit higher levels of collagen and proteoglycans than parakeratinized masticatory oral mucosa. The deep knowledge of histological features of masticatory oral mucosa could lead to a better understanding of oral mucosa pathology and advanced treatments.

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“…The disorder primarily manifests as symmetrical white spongy plaques on the nonkeratinized oral mucosa, although occurrences in extraoral mucosa have also been reported [ 2 ]. Pathogenic variants in keratin 4 ( KRT4 ) or keratin 13 ( KRT13 ) are often implicated in WSN, likely due to alterations in the structure and function of the encoded proteins [ 1 , 3 ]. Traditionally, WSN has been considered a benign condition.…”

Section: Introductionmentioning

confidence: 99%

Malignant transformation of white sponge nevus: a case report of a novel keratin 4 mutation

Liu,

Zhang,

Zhou

et al. 2024

BMC Oral Health

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Background White Sponge Nevus (WSN) is traditionally considered a benign genetic disorder affecting the oral mucosa, primarily caused by pathogenic mutations in keratin 4 (KRT4) or keratin 13 (KRT13). Despite its benign nature, recent evidence has begun to question the malignant potential of WSN. Case presentation We report a case involving a 70-year-old man who presented with a white lesion on the right floor of his mouth. Initial diagnostic evaluations confirmed the lesion as WSN. Over a one-year follow-up, the lesion underwent malignant transformation, evolving into local epithelial moderate-to-severe dysplasia. Exome sequencing identified a novel insertion mutation in exon 1 of the KRT4 gene, resulting in a deletion-insertion amino acid mutation involving glycine. Single-cell RNA sequencing further revealed altered epithelial proliferation and differentiation dynamics within the lesion. Conclusions This case not only expands the known genetic spectrum of KRT4 mutations associated with WSN but also provides preliminary evidence suggesting the malignant potential of WSN. The novel pathogenic mutation in KRT4 is postulated to alter epithelial proliferation and differentiation, thereby raising concerns about the malignant transformation of WSN. Further studies are warranted to confirm these findings.

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White Sponge Nevus Caused by Keratin 4 Gene Mutation: A Case Report

Cited by 3 publications

References 35 publications

GENEvaRX: A Novel AI-Driven Method and Web Tool Can Identify Critical Genes and Effective Drugs for Lichen Planus

GENEvaRX: A Novel AI-Driven Method and Web Tool Can Identify Critical Genes and Effective Drugs for Lichen Planus

Histological characterization of the human masticatory oral mucosa. A histochemical and immunohistochemical study

Malignant transformation of white sponge nevus: a case report of a novel keratin 4 mutation

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