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

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.

Salivary metabolomics of burning mouth syndrome: A cross-sectional study.

OBJECTIVE: There is a lack of systematic studies on salivary metabolomic profiles in burning mouth syndrome (BMS); metabolomics could help explore BMS pathogenesis. We aimed to explore the salivary metabolomic profile of patients with BMS using untargeted metabolomics techniques. DESIGN: A cross-sectional study was designed to analyze the characteristics of unstimulated whole salivary metabolomics of patients with BMS (n = 34) and healthy participants (n = 30). Ultra-performance liquid chromatography quadrupole time-of-flight mass spectrometry, principal component, orthogonal partial least-squares-discriminant, hierarchical clustering, and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses were performed to identify differentially expressed metabolites and metabolic pathways in which they were enriched. RESULTS: We identified 12,982 metabolite ions. Among them, 394 differentially expressed metabolites were identified with variable importance in projection scores of > 1 (P < 0.05) compared with those in the controls. Based on the Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis, 30 metabolites were identified, and 16 of them were enriched in 25 metabolic pathways. The levels of caffeine (log2-fold change = -2.91) and its metabolites, paraxanthine (-2.01) and theophylline (-2.03), were low, and the caffeine metabolism pathway was downregulated in the BMS group compared with those in the controls (P < 0.05). CONCLUSIONS: The salivary metabolomic profile of patients with BMS presented characteristics distinct from those of the controls. A low caffeine level may be associated with BMS. This study provides a novel insight for further exploration of the pathogenesis of and potential therapeutic approaches for BMS.

Association of Hashimoto's thyroiditis and anti-thyroid antibodies with oral lichen planus: A cross-sectional study.

Hashimoto's thyroiditis (HT) and its autoantibodies may be associated with oral lichen planus (OLP). In this cross-sectional study, we aimed to assess the relationship among HT, auto-anti-thyroid antibodies, and OLP in a Chinese population of 247 patients with oral lichen planus. Clinical manifestations of OLP were evaluated using the Thongprasom scoring system and clinical type. The diagnosis of HT was based on thyroid function, anti-thyroid peroxidase antibody (anti-TPOAb) and anti-thyroglobulin antibody (anti-TgAb) detection, and ultrasonography. The prevalence of HT in all patients with OLP was 39.68% (98/247); the prevalence in females with OLP was 46.24% (86/186), which was higher than that in males with OLP 19.67% (12/61) (P < 0.01). The titers of the two HT autoantibodies in females with OLP were higher than those in males (P < 0.01). The clinical manifestations of OLP, regardless of being evaluated using the Thongprasom system or clinical type, were not significantly associated with HT development or TPOAb (P = 0.864) or TgAb titers (P = 0.745). In this population-based southern Chinese cohort, the prevalence of HT in patients with OLP, particularly in female patients with OLP, was significantly higher than that in the general population. Female patients had higher HT autoantibody titers than male patients. However, the clinical manifestations of OLP were not significantly correlated with either HT development or auto-anti-thyroid antibody levels. The findings could help further elucidate the factors involved in the relationship between oral lichen planus and Hashimoto's thyroiditis.

Role of biologics in refractory recurrent aphthous stomatitis.

Refractory recurrent aphthous stomatitis (RRAS) manifests as severe ulcerative lesions of the oral mucosa with poor healing and a poor response to conventional therapy, with or without systemic diseases. Its treatment remains a clinical challenge owing to the lack of effective therapies. Recently, biologics have emerged as promising targeted therapies for RRAS. The biologics targeting specific inflammatory pathways involved in the pathogenesis of RRAS, including tumor necrosis factor-alpha inhibitors and interleukin inhibitors, offer a more precise and promising therapeutic approach for RRAS. These targeted therapies have been shown to promote healing and decrease recurrence frequency in, and improve the quality of life of patients with RRAS. Herein, the types and mechanisms of biologics currently used to treat RRAS have been reviewed; furthermore, the dose, duration, therapeutic efficacy, and adverse effects of RRAS with or without certain associated systemic diseases, and the current problems and future directions have been discussed.