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White sponge nevus (WSN) is a rare autosomal-dominant disorder of the non-keratinized mucosa, characterized by a thickened white edematous mucosa whose surface appears irregular, wrinkly, or spongy. It affects mainly the oral mucosa. The histopathological examination demonstrates hyperparakeratosis, acanthosis with intracellular edema and vacuolization over the prickle cell layer, and eosinophilic perinuclear condensation. The currently accepted etiology is a mutation of the keratin 4 and/or keratin 13 genes. We present a case of WSN diagnosed in a 30-year-old white male patient with white corrugated bilateral lesions on the buccal mucosa that extended beyond the occlusal plane. A biopsy was obtained, and the histological presentation included superficial parakeratosis, prominent acanthosis of the squamous epithelium, and areas with prominent intracellular edema, which confirmed the diagnosis. No treatment was necessary other than patient counseling and initial 6-month follow-up consultation. His attending dentist was informed of the diagnosis, and further follow-ups were recommended.

Abstract 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.

White sponge nevus (WSN) is a hereditary mucosal defect that primarily affects the oral mucosa, presenting with asymptomatic velvety, corrugated hyperkeratotic white plaques that do not disappear on stretching the mucosa. In this case report, we present a non-familial case of a WSN occurring in the tongue in a middle-aged female, which was misdiagnosed as verrucous leukoplakia. [ABSTRACT FROM AUTHOR]

The typical feature is the autosomal dominant heritance and clinically dormant, non‐scarpalble, white diffuse, soft, thickened white plaques with a corrugated surface affecting mostly the buccal mucosa bilaterally which can substantially lead to the diagnosis of white sponge nevus. [ABSTRACT FROM AUTHOR]

Abstract The typical feature is the autosomal dominant heritance and clinically dormant, non‐scarpalble, white diffuse, soft, thickened white plaques with a corrugated surface affecting mostly the buccal mucosa bilaterally which can substantially lead to the diagnosis of white sponge nevus.

White sponge nevus (WSN) is an uncommon, hereditary benign keratinization defect that primarily affects the oral mucosa and occasionally, though rarely, the skin or other mucosal sites, such as the nose, esophagus and anogenital area. Sporadic cases of vaginal WSN have been reported. In the oral cavity, the buccal mucosa is prominently affected. Lesions have been reported at birth but are more commonly noted later during adolescent years. We present three cases of WSN with a discussion of the clinical appearance and histopathology, along with a brief review of the literature.

Glycogenic acanthosis (GA) is usually seen in the lower gastrointestinal tract, and its discovery in the oral mucosa is rare. Previously reported cases of GA in the mouth have been white lesions with a flat surface with leucoplakia-like symptoms, but in the present patient, the surface was rough, and clinically the symptoms resembled those of white sponge nevus. In addition to pathological examination, electron microscopic examination was performed, and its findings are also reported. [ABSTRACT FROM AUTHOR]

Hereditary white lesions are a rare occurrence in the oral cavity. These lesions are usually harmless and benign. But these lesions resemble the other pathological oral white lesions having the risk of malignant transformation. The diagnosticians should be aware of the existence of these benign white lesions to avoid misdiagnosis and timely intervention for potentially malignant disorders. We have reported the occurrence of white sponge nevus in a young male patient and his mother. The patient's family history, complete clinical examination, and histological report validated the clinical diagnosis.

White sponge nevus (WSN) is an uncommon, hereditary benign keratinization defect that primarily affects the oral mucosa and occasionally, though rarely, the skin or other mucosal sites, such as the nose, esophagus and anogenital area. Sporadic cases of vaginal WSN have been reported. In the oral cavity, the buccal mucosa is prominently affected. Lesions have been reported at birth but are more commonly noted later during adolescent years. We present three cases of WSN with a discussion of the clinical appearance and histopathology, along with a brief review of the literature. [ABSTRACT FROM AUTHOR]

Herein, we present a sporadic case of white sponge nevus (WSN) on the cheek mucosa in a 27-year-old Japanese man. A definite diagnosis of WSN was obtained using the typical clinical appearance and microscopic features of the lesions. Histopathological and cytological studies should be conducted to differentiate this condition from other oral premalignant white lesions. A molecular mutation analysis revealed a missense mutation in exon 1A of the keratin 4 gene, which is correlated with the development of WSN. Hence, genetic analysis must be performed to obtain an accurate diagnosis in sporadic cases. The temporary regression of the lesion after treatment with oral amoxicillin hydrate (AMPC) 750 mg/day indicates that antibiotics are effective in symptomatic cases.

White sponge nevus (WSN) is a benign autosomal dominant disorder characterized by the formation of white spongy plaques in the oral mucosa. Keratin (KRT) 13 is highly expressed in the mucosa, and mutations in this gene have been commonly associated with WSN patients. However, it remains unknown whether there is a causal relationship between KRT13 mutations and WSN and what the underlying mechanisms might be. Here, we use mouse genetic models to demonstrate that Krt13 is crucial for the maintenance of epithelial integrity. Krt13 knockout mice show a WSN-like phenotype in several tissues, including the tongue, buccal mucosa, and esophagus. Transcriptome analyses uncover that Krt13 regulates a cohort of gene networks in tongue epithelial cells, including epithelial differentiation, immune responses, stress-activated kinase signaling, and metabolic processes. We also provide evidence that epithelial cells without Krt13 are susceptible to mechanical stresses experienced during postnatal life, resulting in unbalanced cell proliferation and differentiation. These data demonstrate that Krt13 is essential for maintaining epithelial homeostasis and loss of Krt13 causes the WSN-like phenotype in mice. • Krt13 is expressed in both progenitor and differentiated cells in the mouse tongue epithelium. • Krt13 knockout leads to disrupted epithelial integrity, which resembles pathological changes seen in human WSN patients. • Cell overproliferation controlled by the Cyclin E family might contribute to the Krt13 knockout phenotype. [ABSTRACT FROM AUTHOR]

White sponge nevus (WSN) is an uncommon benign inherited disorder characterized by white and diffuse painless lesions in oral, esophageal, or genital mucosa. The lesions may develop at birth or later in childhood or adolescence, with careful clinical examination being sufficient for diagnosis in most cases. However, microscopic analysis may be necessary particularly in adults in which other whitish oral lesions may be clinically suspected. Dermatologists, dentists, and pathologists should consider WSN when evaluating multiple white oral lesions, thus preventing unnecessary treatments. Herein, we report four additional cases of WSN with emphasis on its clinical and histopathological features. [ABSTRACT FROM AUTHOR]

Introduction: White Sponge Nevus (WSN) is a leukokeratosis characterized by white lesions of the oral mucosa. These lesions are bilateral, thickened and raised compared to the adjacent mucosa. Their aspect are folded and spongy. It is a benign disorder with asymptomatics lesions which often appear during the childhood or the adolescence. The interest of this case report is that the diagnostic of WSN had been established directly, thanks to the presence of the patient's father. Observation: A twelve years old patient was examined in the unity of the oral mucosa pathology and oro-facials pain, of the oral surgery service of Bordeaux hospital (CHU de Bordeaux, France). He presented typical WSN lesions. His father was examined and presented the same lesions. Discussion: Diagnostic of WSN is mainly a clinical examination. There are a lot of differential diagnosis, and leukoplakia is the principal. In case of doubt about the diagnostic, a histological examination can be done. Nowadays, there is no consensus about the therapeutic. But the lesions are mainly asymptomatics, so any treatment has to be planed. Conclusion: An early WSN diagnosis avoids to patients a non adapted treatment and reassures young patients and their parents.

White sponge nevus (WSN) is a rare autosomal dominant disorder, which is characterized by soft white mucosal plaques in the oral cavity and other regions. The white plaques exhibit surface irregularities, involving a wrinkly or spongy pattern. Its histopathological findings included a thick stratified squamous epithelium, which displays parakeratosis; cytoplasmic clarification and vacuolization in the stratum spinous layer cell, which were caused by swelling of the cytoplasm; and nuclear condensation. The widely accepted theory for the cause of the onset of WSN is mutation of the keratin 4 and/or 13 genes. We present a case of WSN, in which the patient, a Japanese female, exhibited white plaques on her bilateral buccal mucosae. A 56-year-old female visited our hospital, and her chief complaint was a white lesion on the buccal mucosa. White lesions were observed on her bilateral buccal mucosae. The lesions were widespread and spongy and had irregular surfaces. Tissue samples were obtained during biopsies performed at our hospital. The lesions' histological findings included epithelial hyperparakeratosis with vacuolated cytoplasm in the spinous layer, but there was no evidence of epithelial dysplasia. In addition, spinous layer cells were nuclear condensation and perinuclear acidification. The final histological diagnosis was WSN; thus, we decided to follow-up the patient's progress. Recently, a few studies have reported on the malignant transformation of WSN. Therefore, it is necessary to monitor patients with WSN regularly, and to investigate more cases of WSN to elucidate the cause of such transformation. [ABSTRACT FROM AUTHOR]

Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance. Genetic heterogeneity is very common, and molecular diagnosis requires a broad effort. Recurrent mutations in unrelated families were seen in families with xeroderma, Griscelli. It seems likely that eventually oligonucleotide arrays will replace most other methods for routine mutation scanning of the more common diseases and planned sequencing will be increasingly used for rarer diseases.

Background: The aim of this study was to investigate the roles of keratin 4 (KRT4) gene in the development of human white sponge nevus (WSN).Methods: Transgenic mice were created using the microinjection method with pcDNA3.1 vectors expressing KRT4 wild-type (WT) gene and E520K mutation. Polymerase chain reaction (PCR) and Western blotting were used to identify the genotype of transgenic founders and their filial generations. Expression of KRT4 in mouse oral mucosa was characterized by immunohistochemistry (IHC), and the whole epithelium layer of transgenic mice was observed using transmission electron microscope (TEM).Results: The positive rate of KRT4 transgenic mice in F1 generation was 45.5%. Expression level of KRT4 protein was significantly higher in 2-month-old transgenic mice than WT mice. Furthermore, all the epithelial lamina of 3-month-old transgenic mice showed reduced staining of KRT4. The surface and spinous layers were full of hyalocytes and bubble cells, which are similar to the clinical symptoms of WSN. For the ultrastructure, both tonofilaments and Odland bodies increased.Conclusions: Our study indicated the mutated KRT4 gene may play important roles in the pathogenesis of WSN. [ABSTRACT FROM AUTHOR]

Background: White sponge nevus is a rare autosomal dominant disorder that affects the non-keratinised stratified squamous epithelium. Mutations in the genes that encode mucosa-specific keratin-4 and keratin-13 are strongly linked to the manifestation of white sponge nevus. This study involved mutational analysis of the genes encoding keratin-4 and keratin-13 in two Swedish families with white sponge nevus.Methods: The diagnosis of white sponge nevus was based on disease history, clinical characteristics of the lesions and, in the majority of the cases, histopathological examination. Samples were collected from the affected buccal mucosa using buccal swabs. DNA was subsequently extracted and amplified using touchdown-PCR. The keratin-4 and keratin-13 genes were sequenced, and a genetic analysis was performed.Results: A novel heterozygous missense mutation was identified in exon 1A of the keratin-4 gene in Family 2. In addition, previously reported heterozygous missense mutations were identified in the keratin-4 (E449K, A72V, Q156R, R208H) and keratin-13 (L115P) genes in both families.Conclusion: We describe a novel heterozygous missense mutation in the keratin-4 gene of a Swedish family with white sponge nevus. Our results support the notion that mutations in keratin-4 and keratin-13 are the underlying cause of white sponge nevus. [ABSTRACT FROM AUTHOR]

White sponge nevus is a rare benign autosomal dominant disorder with variable penetrance. It is characterized by asymptomatic white plaques affecting mainly the oral mucosa. Careful clinical and histopathological examination is indicated to exclude other more serious conditions presenting as oral white lesions. Herein, we present a new case of oral white sponge nevus in a 17-year-old Iranian male with no familial background.

Hereditary benign intraepithelial dyskeratosis (HBID) and white sponge nevus (WSN) are rare oral genodermatoses manifesting as white gelatinous or corrugated thick, nonscrapable plaques in the oral mucosa. HBID also presents with gelatinous superficial plaques in conjunctiva. The objective of this article is to report two cases of oral genodermatoses namely HBID and WSN with former being the first case reported from India and to review the literature with total number of cases reported in English literature in PubMed. We also concluded from the search that genetic analysis of all the patients should be done as HBID, which previously been considered as an area specific have patients from Italy, China, Brazil and India.

Key Clinical Message We report a novel KRT13 germ line variant that causes white sponge nevus ( WSN) with mucosal dysplasia. Genital, vaginal, and cervical WSN were observed in four female patients, of whom two had premalignant cervical lesions at young age. Two of the 12 patients with oral WSN developed oral squamous cell carcinoma. [ABSTRACT FROM AUTHOR]

White sponge nevus (WSN) is an interesting hereditary oral mucosal disorder that commonly manifests as bilaterally symmetrical, thickened white, corrugated or velvety, diffuse plaques that predominantly affects the buccal mucosa. The lesions may develop at birth or later in childhood or adolescence. Because it is asymptomatic and benign, WSN requires no treatment. Recognition of this disorder is important due to its potential confusion with other lesions that may be found in the oral cavity. Emphasis should be given to the early and correct diagnosis of this disorder to avoid unnecessary treatment. This report presents three affected members of a single family. [ABSTRACT FROM AUTHOR]

Introduction: Recent developments in implantology have led to an extension of its indications, especially regarding special care patients. This paper offers a review of the literature on the subject of implantology in cases of oral mucosal lesions. Methods: A review of the literature was performed using MEDLINE, without a date range, searching for articles describing oral implant treatments in patients with oral mucosal alterations. Results: Few cases of oral implant treatments in such patients are described. The results of the literature review showed that oral implant treatments greatly enhance the quality of life of these patients. Discussion: Although these pathologies used to be considered contraindications to dental implant placement, recent data shows the feasibility of such treatments. Conclusion: Nonetheless, both strict oral hygiene and regular maintenance are essential to intercept any potential pathology reactivation. [ABSTRACT FROM AUTHOR]

Background: White sponge nevus (WSN) is a rare periodontal hereditary disease. To date, almost all WSN studies have focused on case reports or mutation reports. Thus, the mechanism behind WSN is still unclear. We investigated the pathogenesis of WSN using expression profiling. Methods: Sequence analysis of samples from a WSN Chinese family revealed a mutation (332 T > C) in the KRT13 gene that resulted in the amino acid change Leu111Pro. The pathological pathway behind the WSN expression profile was investigated by RNA sequencing (RNA-seq). Results: Construction of a heatmap revealed 24 activated genes and 57 reduced genes in the WSN patients. The ribosome structure was damaged in the WSN patients. Moreover, the translation rate was limited in the WSN patients, whereas ubiquitin-mediated proteolysis was enhanced. Conclusions: Our results suggest that the abnormal degradation of the KRT13 protein in WSN patients may be associated with keratin 7 (KRT7) and an abnormal ubiquitination process. [ABSTRACT FROM AUTHOR]

Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance. Genetic heterogeneity is very common, and molecular diagnosis requires a broad effort. Recurrent mutations in unrelated families were seen in families with xeroderma, Griscelli. It seems likely that eventually oligonucleotide arrays will replace most other methods for routine mutation scanning of the more common diseases and planned sequencing will be increasingly used for rarer diseases. [ABSTRACT FROM AUTHOR]

White sponge nevus is a rare benign autosomal dominant disorder with variable penetrance. It is characterized by asymptomatic white plaques affecting mainly the oral mucosa. Careful clinical and histopathological examination is indicated to exclude other more serious conditions presenting as oral white lesions. Herein, we present a new case of oral white sponge nevus in a 17-year-old Iranian male with no familial background. [ABSTRACT FROM AUTHOR]