White Sponge Nevus Research Articles

Innovative Combination of Tetracycline Rinse and CO₂ Laser Ablation for Treating White Sponge Nevus in Adolescents: A Case Study

Innovative Combination of Tetracycline Rinse and CO₂ Laser Ablation for Treating White Sponge Nevus in Adolescents: A Case Study

White Sponge Nevus of the oral mucosa – Case report

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.

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

BackgroundWhite 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 presentationWe 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.ConclusionsThis 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 of cannon

NA

Non-familial White Sponge Nevus, an Innocuous yet Clinically Significant Entity: Report of a Case with Review of the Literature.

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.

White Sponge Nevus : Autosomal Dominant Genetic Disorder

Background: The oral cavity is an anatomically part of the body that has complex tissues and structures and is covered by soft, moist, and flexible non-keratinized mucosa for mobility. In some individuals, normal variations can be found, one of which is the White Sponge Nevus (WSN). These lesions are usually in the form of patches of white plaque that can be found by a dentist. Purpose: To identify and be able to differentiate normal variation lesions from pathological lesions that have similar clinical features. Method: Based on reference sources/references obtained from articles, journals for 2011-2021, textbooks, and websites accessed through the Google Scholar database, Science Direct, PubMed. Conclusion: In making a diagnosis, the dentist plays an important role in analyzing the etiology and predisposing factors in order to facilitate the identification of the White sponge nevus condition and eliminate other conditions which are a differential diagnosis. The normal variation of white sponge nevus has a good prognosis, so special medical treatment is not needed if it does not cause symptoms.

Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series

White Sponge Nevus (WSN) is a rare benign disorder associated with mutations in genes coding for cytokeratin 4 (KRT4) and 13 (KRT13) characterized by dyskeratotic hyperplasia of mucous membranes. This study was aimed at examining different approaches (cytology, pathology and genetic analysis) to WSN diagnosis. A series of four patients with asymptomatic white diffuse oral lesions were evaluated and, before performing an incisional biopsy for pathology, an oral brush Thin Prep was collected for exfoliative liquid-based cytology (LBC). DNA for genetic analysis was also obtained from patients and both their parents, using buccal swabs. Pathology and cytology showed similar results, leading to the same diagnosis of hyperkeratotic epithelium with acanthosis and spongiosis, without atypia, demonstrating the efficiency of LBC for the differential diagnosis. Sequencing analysis revealed at least 6 rare variants in the KRT4 and KRT13 genes in each patient, contributed in part by both unaffected parents. Thin Prep for oral exfoliative cytology and genetic analysis are sufficient for an accurate diagnosis of WSN. The combination of cytological and genetic analyses could substitute the histologic exam, providing a non-invasive alternative for incisional biopsy.

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

White sponge nevus (WSN) is a rare autosomal dominant disease with a family history, often caused by mutations of the keratin 4 (K4) and keratin 13 (K13) genes in patients. It is characterized by frequently occurred white corrugated folds in the bilateral buccal mucosa with soft texture. On histopathological examination, hyperkeratosis of epithelial cells, edema, and vacuolar changes in the spinous cells are observed in the lesions, despite a normal layer of basal cells. WSN should be differentiated from other oral white spot diseases, mainly oral lichen planus, oral candidiasis, oral white edema, and Heck's disease, to reduce misdiagnosis and unnecessary treatment. At present, there is no specific treatment method. The purpose of this study was to report the clinical data of four WSN patients of the same family with the K4 gene mutation. The occurrence of WSN in a pair of monozygotic twins with very similar clinical presentations was identified for the first time. The gene sequencing results showed that there was a heterozygous deletion (C. 438_440delCAA) in exon 1 of the K4 gene, resulting in an aspartic acid loss in both the proband and his father. Finally, the etiology, pathogenesis, pathological manifestations, clinical manifestations, diagnosis, differential diagnosis, and related treatment methods are discussed to provide a reference for clinical treatment of the disease.

313 A case of familiar white sponge nevus with KRT4 gene variants

White sponge nevus (WSN) is a rare genetic disease with AD inheritance that is mostly diagnosed in oral and dental medical departments as the most obvious clinical sign is the dyskeratotic hyperplasia in form of white spongy plaques in the oral mucosa. According to published data from Hungary, 13 patients were diagnosed with white sponge nevus at the Departments of Oral Medicine and Conservative Dentistry of the Semmelweis University, with histology and detailed ultrastructural examination of the mucosal lesions.

White Sponge Nevus

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 Relieved with Antibiotic

患者：40 歳，女性

White Sponge Nevus, a Rare but Important Entity

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.

18781 A familial case of white sponge nevus and review of the literature

White sponge nevus (WSN) is an autosomal dominant skin disorder characterized by white corrugated and diffuse plaques mainly affecting the non-keratinised stratified squamous epithelium. Although WSN is usually seen in the oral mucosa, other sites, such as the nasal, esophageal, laryngeal, and anogenital mucosa, may also be involved. We describe a case a 11-year-old girl who presented with asymptomatic rough, diffuse, white patches in the bilateral buccal mucosa gingiva with extension to the esophagus that was evident on esophageal gastroduodenoscopy. A biopsy of esophageal tissue confirmed the presence of WSN. Her father had a similar biopsy-proven but more widespread appearance in the buccal mucosa and esophagus as well. WSN is caused by germline variants of the keratin genes KRT4 or KRT13, located, respectively, at chromosomes 12q13 and 17q21-q22. Extra-oral affected sites have been shown to arise only from KRT13 variants. It is important to recognize this benign entity and to differentiate it from other acquired causes of intra-oral white plaques such as leukoplakia, candidiasis and lichen planus. A thorough history and physical examination would help to exclude other genodermatoses like pachyonychia congenita, hereditary benign intraepithelial dyskeratosis, Darier disease, and dyskeratosis congenita.

Two white sponge nevus in a single family: case report

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: A case report of a rare keratinopathy and its novel treatment approach

White sponge nevus (WSN) is a hereditary mucocutaneous leukokeratosis due to an altered expression of CK 4 and CK 13 genes, thereby causing a defect in keratinization. We report the case of WSN in a 27-year-old who presented with a complaint of white, painless patches in both the cheek mucosa since childhood. The patient was examined and the biopsy was done. Based on the clinical findings, inheritance pattern, and histopathological features, a diagnosis of WSN was made. The patient responded well to our novel treatment approach with amoxicillin suspension (250 mg/5 ml). Regarding the treatment of WSN, no definite pharmacological therapy is available till date. We report this case to emphasize that amoxicillin suspension topical therapy may be used as a novel treatment measure with its unique advantages.

Oral White Sponge Nevus: An Exceptional Differential Diagnosis in Childhood

White sponge nevus is an autosomal dominant skin disorder characterized by white, irregular, diffuse plaques mainly affecting the oral mucosa. Histological findings of white sponge nevus are characteristic but not pathognomonic. We report a case of an oral white sponge nevus in a 6-year-old girl, which poses a problem in differential diagnosis with oral candidiasis. No treatment was performed because of the benign and asymptomatic nature of the lesions.

Keratin 13 deficiency causes white sponge nevus in mice

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.

A case and familial cases of white sponge nevus successfully treated by long term-low dose macrolide therapy

A case and familial cases of white sponge nevus successfully treated by long term-low dose macrolide therapy

WHITE SPONGE NEVUS: CASE REPORT WITHOUT A FAMILY HISTORY

White sponge nevus (WSN) is a rare autosomal dominant disorder with variable expressivity and high penetrance. Oral mucosa is the most affected region. Usually, this entity occurs at birth or later in childhood or adolescence. A 42-year-old man complained of white, asymptomatic lesions, which were present for more than 3 years. No family history of similar lesions was reported. Intraoral examination revealed nonremovable, symmetric, diffuse white plaques, all over the buccal mucosa, bilaterally, with a corrugated surface. An incisional biopsy was performed and histopathologic analysis revealed stratified squamous epithelium, with hyperparakeratosis, an extensive area with acanthosis and keratotinocytes with perinuclear eosinophilic condensation. Based on clinical and microscopic aspects, the diagnosis made was WSN. Further material was collected for cytopathologic examination in order to confirm the diagnosis. Treatment is not necessary due to the benign nature of WSN. Correct diagnosis is important to exclude other more serious lesions with similar characteristics. White sponge nevus (WSN) is a rare autosomal dominant disorder with variable expressivity and high penetrance. Oral mucosa is the most affected region. Usually, this entity occurs at birth or later in childhood or adolescence. A 42-year-old man complained of white, asymptomatic lesions, which were present for more than 3 years. No family history of similar lesions was reported. Intraoral examination revealed nonremovable, symmetric, diffuse white plaques, all over the buccal mucosa, bilaterally, with a corrugated surface. An incisional biopsy was performed and histopathologic analysis revealed stratified squamous epithelium, with hyperparakeratosis, an extensive area with acanthosis and keratotinocytes with perinuclear eosinophilic condensation. Based on clinical and microscopic aspects, the diagnosis made was WSN. Further material was collected for cytopathologic examination in order to confirm the diagnosis. Treatment is not necessary due to the benign nature of WSN. Correct diagnosis is important to exclude other more serious lesions with similar characteristics.

The molecular-based differentiation of Heck's disease from its mimics including oral condyloma and white sponge nevus

Heck's disease (focal or multifocal epithelial hyperplasia) is a benign, rare condition of the skin and mucous membranes induced by human papillomavirus (HPV) infection. Other entities that can induce large papillomatous lesions that involve the mucous membranes and skin include condyloma acuminatum, which is sexually transmitted, and white sponge nevus, often due to a mutation of cytokeratin 4 or 13. Six cases diagnosed as either Heck's disease (n = 2) or white sponge nevus (n = 4) and 6 oral condyloma were compared on histologic grounds and analyzed in situ for HPV DNA, including HPVs 6,11, and 13, as well as cytokeratins 4 and 13. Each case showed marked acanthosis, and para/hyperkeratosis. More variable histologic findings included rete ridge elongation, keratinocyte degeneration, and perinuclear halos. High copy HPV 13 DNA was evident in the squamous cells towards the surface in the two cases diagnosed as Heck's disease and in two cases diagnosed as white sponge nevus on clinical grounds. HPV 6/11 was found in each of the six condyloma. Marked decrease in either cytokeratin 4 or 13 was evident in the two cases diagnosed as white sponge nevus that were HPV DNA negative. It is concluded that in situ hybridization analyses including HPVs 6, 11, and 13 as well as immunohistochemistry for cytokeratins 4 and 13 can differentiate Heck's disease from condyloma and white sponge nevus, which can be difficult to differentiate on clinical and histologic grounds.